Atrofia korowej tylna – Diagnostyka i diagnoza

Atrofia korowej tylna
Diagnostyka i diagnoza

Atrofia korowa tylna (PCA) to rzadkie, neurodegeneracyjne zaburzenie charakteryzujące się postępującymi deficytami funkcji wzrokowo-przestrzennych i wzrokowo-percepcyjnych, przy względnym zachowaniu pamięci i funkcji językowych we wczesnym stadium. Diagnostyka PCA jest wyzwaniem ze względu na często mylne rozpoznania okulistyczne lub psychiatryczne oraz opóźnienia sięgające 1-3 lat od pojawienia się pierwszych objawów. Konsensusowe kryteria diagnostyczne z 2017 roku obejmują trzy poziomy oceny: kliniczno-radiologiczny, identyfikację współistniejących zaburzeń oraz potwierdzenie biomarkerów neurodegeneracji. Typowe objawy to dezorientacja przestrzenna, jednoimienne ubytki pola widzenia, deficyty percepcji przestrzennej i simultanagnozja. Neuropsychologicznie obserwuje się obniżenie wyników poniżej 5 percentyla w testach funkcji ciemieniowych przy zachowanej pamięci rozpoznawczej. Diagnostyka opiera się na kompleksowej ocenie neurologicznej, badaniach neuropsychologicznych, okulistycznych, obrazowych (MRI, FDG-PET, SPECT) oraz analizie biomarkerów w płynie mózgowo-rdzeniowym (obniżony beta-amyloid 1-42, podwyższone t-tau i p-tau). MRI wykazuje atrofie w obszarach potylicznych, ciemieniowych i tylnych skroniowych, często asymetryczne, a PET amyloidowy potwierdza obecność złogów amyloidu typowych dla choroby Alzheimera, która odpowiada za ponad 80% przypadków PCA.

Diagnostyka atrofii korowej tylnej

Atrofia korowa tylna (ang. Posterior Cortical Atrophy, PCA), znana również jako zespół Bensona, jest rzadkim zaburzeniem neurodegeneracyjnym, charakteryzującym się postępującym pogorszeniem funkcji wzrokowo-przestrzennych i wzrokowo-percepcyjnych, przy jednoczesnym względnym zachowaniu pamięci i funkcji językowych we wczesnym stadium choroby. Diagnoza PCA często bywa opóźniona, a pacjenci niejednokrotnie otrzymują błędne rozpoznania chorób okulistycznych lub zaburzeń psychologicznych.¹²

Ze względu na fakt, że pierwsze objawy atrofii korowej tylnej są często związane z zaburzeniami widzenia, pacjenci zazwyczaj najpierw konsultują się z okulistą. Jednak problemy wzrokowe w PCA wynikają ze zmian w mózgu, a nie w oczach, więc badanie okulistyczne samo w sobie nie pozwala zazwyczaj na postawienie właściwej diagnozy. W PCA problemem jest niezdolność zaatakowanej części mózgu do interpretowania informacji przesyłanych przez prawidłowo funkcjonujące oczy.³⁴

Opóźnienie diagnostyczne

Pacjenci z PCA często zgłaszają, że między wystąpieniem pierwszych objawów a postawieniem formalnej diagnozy mijają lata. Według badań, ten czas może wynosić od 1 do 3 lat, co wynika z rzadkości występowania tego schorzenia oraz z faktu, że początkowe objawy są często subtelne i trudne do opisania.⁵⁶

Osoby z PCA często są diagnozowane nieprawidłowo jako cierpiące na choroby oczu, zaburzenia psychologiczne, depresję, objawy związane z menopauzą, a nawet udar mózgu. Takie błędne diagnozy mogą prowadzić do nieodpowiedniego leczenia i zbędnego dystresu pacjenta.⁷⁸

Kryteria diagnostyczne atrofii korowej tylnej

W 2017 roku opublikowano nowe konsensusowe kryteria diagnostyczne dla PCA, które uwzględniają zarówno aspekty kliniczne, radiologiczne, jak i biomarkery. Te kryteria mają na celu ułatwienie postawienia diagnozy i umożliwienie porównywania badań z różnych ośrodków.⁹¹⁰

Zgodnie z tymi kryteriami, diagnostyka PCA odbywa się na trzech poziomach:¹¹

Poziom pierwszy: ustalenie diagnozy PCA jako zespołu kliniczno-radiologicznego
Poziom drugi: określenie, czy występują objawy i oznaki odpowiadające kryteriom diagnostycznym innych zaburzeń współistniejących z PCA
Poziom trzeci: ustalenie, czy istnieją wyniki badań (biomarkery), które dostarczają dowodów na konkretny proces chorobowy w mózgu

¹¹

Objawy kliniczne istotne w diagnostyce

PCA należy podejrzewać u pacjentów prezentujących następujące objawy:¹²

Dezorientacja przestrzenna
Problemy z tablicami Ishihary pomimo normalnego widzenia kolorów
Jednoimienne ubytki pola widzenia
Pomijanie liter na tablicy ostrości wzroku

¹²

W badaniu neuropsychologicznym pacjenci z PCA wykazują charakterystyczny wzorzec deficytów. Kryteria badawcze dla PCA wymagają spełnienia kryteriów klinicznych oraz obniżenia wyników poniżej 5 percentyla w co najmniej dwóch z czterech testów dotyczących funkcji ciemieniowych (percepcja obiektów, percepcja przestrzeni, kalkulacja, pisownia) ORAZ wyników powyżej 5 percentyla w testach pamięci rozpoznawczej.¹³

Przy pierwszej wizycie diagnostycznej, która zazwyczaj ma miejsce około 3,8 roku po wystąpieniu pierwszych objawów, u pacjentów z PCA często obserwuje się już łagodną lub umiarkowaną demencję z deficytami w zakresie pamięci, funkcji wykonawczych, zachowania oraz mowy i języka. Na tym etapie u 61% pacjentów występuje „dyspraksja konstrukcyjna” (niezdolność do kopiowania lub konstruowania podstawowych diagramów lub figur), u 49% „deficyt percepcji przestrzennej” (trudności w określaniu lokalizacji widzianych obiektów), a u 48% „simultanagnozja” (niezdolność do jednoczesnego wizualnego postrzegania więcej niż jednego obiektu).¹⁴

Badania diagnostyczne w atrofii korowej tylnej

Nie istnieje pojedynczy test diagnostyczny dla PCA. Diagnoza opiera się na kombinacji badań, które mają na celu wykluczenie innych potencjalnych przyczyn objawów oraz potwierdzenie typowych zmian dla PCA.¹⁵¹⁶

Badania neurologiczne i neuropsychologiczne

Kompleksowa ocena neurologiczna jest podstawą diagnozy PCA. Obejmuje ona:¹⁷

Dokładny wywiad medyczny i ocenę objawów, ze szczególnym uwzględnieniem problemów wzrokowych
Badanie neurologiczne
Testy statusu mentalnego i ocena neuropsychologiczna funkcji poznawczych
Ocena pod kątem depresji lub innych zaburzeń psychicznych

¹⁷

Testy neuropsychologiczne mają kluczowe znaczenie w diagnozowaniu PCA i różnicowaniu jej z innymi zaburzeniami. Oceniają one funkcje wzrokowo-przestrzenne, wzrokowo-percepcyjne, pamięć, funkcje językowe i wykonawcze.¹⁸

Badania okulistyczne

Badanie okulistyczne jest istotne w celu wykluczenia chorób oczu jako przyczyny problemów wzrokowych. Obejmuje ono:¹⁹

Standardowe badanie ostrości wzroku
Badanie pola widzenia
Ocenę widzenia kolorów (np. za pomocą tablic Ishihary)

¹⁹

Testy pola widzenia są często zlecane przez okulistów lub optometrystów, gdy próbują określić przyczynę problemów wzrokowych pacjenta, a badanie oczu nie pozwala na postawienie diagnozy.²⁰

Badania laboratoryjne

Badania krwi mogą pomóc wykluczyć inne przyczyny objawów, takie jak:²¹

Niedobory witamin
Zaburzenia tarczycy
Inne schorzenia, które mogą powodować podobne objawy

²¹

Badania obrazowe

Rezonans magnetyczny (MRI) to podstawowe badanie obrazowe w diagnostyce PCA. Umożliwia ono wizualizację zmian strukturalnych w mózgu, w szczególności atrofii (zaniku) w okolicach potylicznych, ciemieniowych i tylnych skroniowych, które są charakterystyczne dla PCA. Zmiany te są często obustronnie, ale mogą być bardziej nasilone w prawej półkuli mózgu.²²²³

Pozytonowa tomografia emisyjna (PET) z wykorzystaniem fluorodeoksyglukozy (FDG) lub tomografia emisyjna pojedynczego fotonu (SPECT) są badaniami funkcjonalnymi, które pozwalają ocenić aktywność metaboliczną różnych obszarów mózgu. W PCA charakterystycznie stwierdza się hipometabolizm (zmniejszoną aktywność metaboliczną) w okolicach potylicznych, ciemieniowych i tylnych skroniowych. Co istotne, zmiany funkcjonalne mogą poprzedzać zmiany strukturalne widoczne w MRI.²⁴²⁵

PET amyloidowy pozwala na ocenę obecności złogów amyloidu w mózgu, co jest charakterystyczne dla choroby Alzheimera – najczęstszej przyczyny PCA.²⁶

Badanie płynu mózgowo-rdzeniowego

Badanie płynu mózgowo-rdzeniowego (punkcja lędźwiowa) może pomóc w ocenie biomarkerów charakterystycznych dla choroby Alzheimera, takich jak:²⁷

Obniżone stężenie beta-amyloidu 1-42
Podwyższone stężenie białka tau całkowitego (t-tau)
Podwyższone stężenie fosforylowanego białka tau (p-tau)

²⁷²⁸

W przypadku podejrzenia choroby prionowej jako przyczyny PCA, można dodatkowo oznaczać białko 14-3-3.²⁸

Algorytm diagnostyczny w atrofii korowej tylnej

Proponowany algorytm diagnostyczny w ocenie PCA obejmuje następujące etapy:²⁹

Czy mamy do czynienia z patologią neurodegeneracyjną?
Czy jest to jednostka związana z korą tylną mózgu?
Czy jest to czysta PCA czy PCA plus choroba Alzheimera (AD), otępienie z ciałami Lewy’ego (LBD), zwyrodnienie korowo-podstawne (CBD) lub choroba prionowa?
Czy występują dodatnie istotne biomarkery, takie jak płyn mózgowo-rdzeniowy Ab 1-42, Tau, p-Tau dla AD i białko 14-3-3 dla choroby prionowej?

²⁹

Warto podkreślić, że diagnoza PCA na poziomie syndromicznym wymaga oceny klinicznej/neuropsychologicznej i wspierających badań obrazowych, aby właściwie ukierunkować leczenie objawowe i wsparcie dostosowane do profilu klinicznego. Natomiast diagnoza na poziomie etiologicznym (związana z konkretną chorobą) wymaga badań biomarkerów molekularnych, które są coraz ważniejsze w kontekście rozwoju terapii modyfikujących przebieg chorób.³⁰

Rozpoznanie różnicowe

W diagnostyce różnicowej PCA należy uwzględnić:³¹

Chorobę Alzheimera (najczęściej związaną z PCA)
Otępienie z ciałami Lewy’ego
Zwyrodnienie korowo-podstawne
Choroby prionowe, takie jak choroba Creutzfeldta-Jakoba

³¹

Badania wskazują, że w ponad 80% przypadków PCA jest spowodowana chorobą Alzheimera, ale z nietypową prezentacją kliniczną, gdzie dominują zaburzenia wzrokowo-przestrzenne, a nie zaburzenia pamięci.³²

Biomarkery w diagnostyce atrofii korowej tylnej

Biomarkery odgrywają kluczową rolę w diagnostyce PCA, będąc niezwykle istotnymi w ustaleniu neurodegeneracyjnego podłoża choroby, dostarczając wspierających dowodów na atrofię/dysfunkcję kory tylnej oraz określając podstawową patologię.³³

Zgodnie z najnowszymi kryteriami diagnostycznymi, biomarkery są uwzględniane zarówno w opisie zespołu, jak i choroby podstawowej. Szczególnie istotne są one w kontekście możliwości dostępu do obecnych i przyszłych terapii.³⁴

Biomarkery w płynu mózgowo-rdzeniowego

W płynie mózgowo-rdzeniowym u pacjentów z PCA spowodowaną chorobą Alzheimera typowo obserwuje się:³⁵

Obniżony poziom beta-amyloidu 1-42
Podwyższony poziom całkowitego białka tau (t-tau)
Podwyższony poziom fosforylowanego białka tau (p-tau)

³⁵

Jednak warto zauważyć, że profil biomarkerów może być atypowy w przypadku PCA w porównaniu do typowej choroby Alzheimera.³⁶

Biomarkery obrazowe

W badaniach obrazowych u pacjentów z PCA charakterystycznie stwierdza się:³⁷

Większy zanik kory w prawym obszarze potyliczno-skroniowym w porównaniu z pacjentami z typową chorobą Alzheimera
Początkowe obszary hipometabolizmu zlokalizowane w pierwotnej korze wzrokowej i korach wzrokowych skojarzeniowych (w przeciwieństwie do typowej choroby Alzheimera, gdzie najwcześniej dotknięte są zakręt obręczy i struktury przyśrodkowe skroniowe)

³⁷

Badania wykazują również, że pacjenci z PCA mają więcej patologii tau w tylnych częściach mózgu, zaangażowanych w przetwarzanie informacji wzrokowo-przestrzennych, w porównaniu do osób z innymi prezentacjami choroby Alzheimera.³⁸

Wyzwania diagnostyczne i przyszłe kierunki

Diagnostyka PCA napotyka na szereg wyzwań, które mogą przyczyniać się do opóźnień w rozpoznaniu:³⁹

Rzadkość występowania schorzenia
Stopniowe pojawianie się objawów
Różnorodność objawów
Młodszy wiek zachorowania (zazwyczaj 50-65 lat) w porównaniu do typowej choroby Alzheimera
Brak świadomości na temat tego syndromu wśród lekarzy podstawowej opieki zdrowotnej, okulistów i innych specjalistów

³⁹⁴⁰

Istotne jest również zrozumienie, że obecnie nie ma w pełni zaakceptowanych kryteriów diagnostycznych dla PCA, co prowadzi do niejednorodności w terminologii i trudności w porównywaniu badań z różnych ośrodków.⁴⁰

W kontekście rozwoju terapii modyfikujących przebieg choroby Alzheimera, wczesna i dokładna diagnoza PCA jest coraz ważniejsza. Obecnie prowadzone są badania mające na celu lepszą charakterystykę i diagnozę PCA, jak na przykład długoterminowe badanie PCA prowadzone przez University College London od 2005 roku.⁴¹

Znaczenie wczesnej diagnozy

Wczesne rozpoznanie PCA ma kluczowe znaczenie z kilku powodów:⁴²

Umożliwia wdrożenie odpowiednich środków bezpieczeństwa, takich jak unikanie prowadzenia pojazdów, usunięcie niebezpiecznych mebli i dostosowanie otoczenia domowego
Pozwala na zapobieganie upadkom i wypadkom drogowym
Daje możliwość skorzystania z obecnych i przyszłych terapii
Umożliwia odpowiednie planowanie opieki i wsparcia

⁴²⁴³

Badania wskazują, że lepsze zrozumienie PCA jest „kluczowe zarówno dla poprawy opieki nad pacjentem, jak i dla zrozumienia procesów, które kierują rozwojem choroby Alzheimera”. Dlatego tak ważne jest, aby lekarze nauczyli się rozpoznawać ten zespół, aby pacjenci mogli otrzymać właściwą diagnozę, poradnictwo i opiekę.⁴⁴

Diagnostyka podstawowej przyczyny atrofii korowej tylnej

Ostateczne rozpoznanie choroby podstawowej w PCA wymaga badania mózgu po śmierci (autopsji), ale badanie płynu mózgowo-rdzeniowego i obrazowanie amyloidu mogą pomóc w dokładniejszym określeniu diagnozy klinicznej.⁴⁵

Obecnie dostępne są konkretne testy biomarkerów biologicznych tylko dla choroby Alzheimera i choroby prionowej.⁴⁶

Choroba Alzheimera jako najczęstsza przyczyna PCA

Aby postawić ostateczną diagnozę choroby Alzheimera, niezbędne jest stwierdzenie markerów choroby Alzheimera w badaniu autopsyjnym lub w płynie mózgowo-rdzeniowym, gdzie poszukuje się nieprawidłowego nagromadzenia białek amyloidu i tau.⁴⁷

Zgodnie z klasyfikacją International Working Group (IWG)-2, rozpoznanie PCA-AD (atrofii korowej tylnej związanej z chorobą Alzheimera) wymaga spełnienia kryteriów zespołu PCA oraz obecności dowodów na patologię Alzheimera in vivo.⁴⁸

Inne przyczyny PCA

Aby rozpoznać otępienie z ciałami Lewy’ego zgodnie z kryteriami konsorcjum DLB, pacjenci muszą wykazywać co najmniej dwie główne cechy DLB lub jedną główną cechę i jedną lub więcej cech sugerujących.⁴⁹

W przypadku zwyrodnienia korowo-podstawnego i choroby prionowej również istnieją specyficzne kryteria diagnostyczne oparte na obrazie klinicznym i badaniach pomocniczych.⁵⁰

Etiologia PCA	Częstość występowania	Kluczowe biomarkery	Badania diagnostyczne
Choroba Alzheimera	Ponad 80% przypadków	Obniżony beta-amyloid 1-42, podwyższone t-tau i p-tau w płynie mózgowo-rdzeniowym; dodatni PET amyloidowy	MRI, FDG-PET, SPECT, badanie płynu mózgowo-rdzeniowego, PET amyloidowy
Otępienie z ciałami Lewy’ego	Około 10% przypadków	Obecność ciał Lewy’ego, białka alfa-synukleiny	MRI, FDG-PET, SPECT, badanie płynu mózgowo-rdzeniowego
Zwyrodnienie korowo-podstawne	Około 22% przypadków	Patologia tau, białko 4R tau	MRI, FDG-PET, SPECT
Choroba prionowa	Rzadko	Białko prionowe, białko 14-3-3 w płynie mózgowo-rdzeniowym	MRI, EEG, badanie płynu mózgowo-rdzeniowego

Podsumowanie diagnostyki atrofii korowej tylnej

Diagnostyka PCA jest złożonym procesem, który wymaga kompleksowego podejścia łączącego dokładną ocenę kliniczną, badania neuropsychologiczne, obrazowanie mózgu i analizę biomarkerów. Ze względu na rzadkość występowania tego schorzenia oraz często nietypową prezentację, diagnoza bywa opóźniona, co podkreśla potrzebę zwiększenia świadomości na temat tego zespołu wśród lekarzy różnych specjalności.⁵¹

Wczesna i dokładna diagnoza PCA ma kluczowe znaczenie dla zapewnienia odpowiedniego leczenia objawowego, wsparcia dostosowanego do profilu klinicznego oraz potencjalnego dostępu do terapii modyfikujących przebieg choroby, które są obecnie rozwijane dla choroby Alzheimera i innych przyczyn PCA.⁵²

Konsensusowe kryteria z 2017 roku, które uwzględniają zarówno aspekty związane z zespołem, jak i z chorobą podstawową, stanowią ważny krok w kierunku ujednolicenia podejścia diagnostycznego do PCA. Jednakże nadal istnieje potrzeba dalszych badań w celu lepszego zrozumienia biomarkerów specyficznych dla PCA oraz poprawy wczesnego rozpoznawania tego schorzenia.⁵³

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Materiały źródłowe

#1 Diagnosis and Management of Posterior Cortical Atrophy
https://pmc.ncbi.nlm.nih.gov/articles/PMC9935654/
The study aims to provide a summary of recent developments for diagnosing and managing posterior cortical atrophy (PCA). […] PCA diagnosis is frequently delayed, and people are likely to receive misdiagnoses of ocular or psychological conditions. […] Currently, management should be tailored to each individual’s symptoms and particular challenges associated with PCA. […] Diagnosing the PCA clinico-radiological syndrome requires neurological and neuropsychological assessment. […] People with PCA often report a period of years between symptom onset and formal diagnosis. […] Assessing visual functions in PCA may be complicated by a combination of cortical visual and eye movement abnormalities. […] Biomarkers are incorporated in both syndrome- and disease-level descriptions of PCA, being of key importance in establishing a neurodegenerative basis, providing supportive evidence of posterior cortical atrophy/dysfunction and determining underlying pathology. […] A timely and accurate PCA diagnosis is essential to provide opportunities for management, planning and access to current and anticipated treatments. […] PCA consensus criteria incorporate syndrome- and disease-level descriptions.
#2 Diagnosis and management of posterior cortical atrophy – CentAUR
https://centaur.reading.ac.uk/110707/
Purpose of review: The study aims to provide a summary of recent developments for diagnosing and managing posterior cortical atrophy (PCA). […] Recent findings: Recent multi-centre consensus recommendations provide PCA criteria with implications for different management strategies (e.g. targeting clinical features and/or disease). […] PCA diagnosis is frequently delayed, and people are likely to receive misdiagnoses of ocular or psychological conditions. […] Current treatment of PCA is symptomatic pharmacological and non-pharmacological and the use of most treatment options is based on small studies or expert opinion. […] An accurate and timely diagnosis of PCA and determining underlying pathology is of increasing importance in the advent of disease-modifying therapies for AD and other albeit rare causes of PCA.
#3 Understanding PCA – Rare Dementia Support
https://www.raredementiasupport.org/posterior-cortical-atrophy/understanding-pca/
Posterior cortical atrophy (PCA) is a form of dementia that mainly affects the parts of the brain that process visual and spatial information. […] However, PCA can also affect older people and it can take a long time for people to receive the correct diagnosis. […] The first signs of PCA are often very subtle and may be difficult for the person experiencing them to describe. […] People with PCA usually first experience difficulties with vision. Quite understandably, this leads them to consult an optician. However, the visual problems in PCA are due to changes in the brain rather than the eyes, and so an optician will not usually get to the root of the problem. In PCA the problem is that the affected part of the brain is unable to interpret the information sent to it by the healthy eyes.
#4 Posterior Cortical Atrophy – Rare Dementia Support Canada
https://raredementiasupport.ca/rare-or-young-onset-dementia/posterior-cortical-atrophy/
Posterior cortical atrophy (PCA) means back of the brain shrinkage and it refers to the progressive loss of brain cells, particularly in brain regions that process visual and sensory information. […] PCA is a rare form of dementia which can initially cause difficulties with seeing what and where things are, for example, when driving or reading, with interpreting, locating, or navigating things or places. […] However, PCA can also affect older people and it can take a long time for people to receive the correct diagnosis because of the unusual or atypical symptoms. […] Although in PCA the primary symptoms affect vision, these problems are due to changes in the brain rather than the eyes, and so an optician or ophthalmologist will not usually get to the root of the problem. […] People living with PCA often do not have problems with their memory and language abilities in the early stages.
#5 Diagnosis and Management of Posterior Cortical Atrophy
https://pmc.ncbi.nlm.nih.gov/articles/PMC9935654/
The study aims to provide a summary of recent developments for diagnosing and managing posterior cortical atrophy (PCA). […] PCA diagnosis is frequently delayed, and people are likely to receive misdiagnoses of ocular or psychological conditions. […] Currently, management should be tailored to each individual’s symptoms and particular challenges associated with PCA. […] Diagnosing the PCA clinico-radiological syndrome requires neurological and neuropsychological assessment. […] People with PCA often report a period of years between symptom onset and formal diagnosis. […] Assessing visual functions in PCA may be complicated by a combination of cortical visual and eye movement abnormalities. […] Biomarkers are incorporated in both syndrome- and disease-level descriptions of PCA, being of key importance in establishing a neurodegenerative basis, providing supportive evidence of posterior cortical atrophy/dysfunction and determining underlying pathology. […] A timely and accurate PCA diagnosis is essential to provide opportunities for management, planning and access to current and anticipated treatments. […] PCA consensus criteria incorporate syndrome- and disease-level descriptions.
#6 Understanding PCA – Rare Dementia Support
https://www.raredementiasupport.org/posterior-cortical-atrophy/understanding-pca/
Even once an appropriate referral has been made to a specialist usually a neurologist, psychiatrist or neuro-ophthalmologist it may take some time before the diagnosis is made formally. It can typically take 1 to 3 years from the onset of symptoms. As a result, many people living with PCA feel frustrated by the time of diagnosis. […] It is important that opticians, ophthalmologists, GPs and others across the healthcare sector are better informed about PCA and better equipped to recognise the symptoms. […] There is no single diagnostic test for PCA. The tests listed below may help to exclude potentially treatable causes such as infection, inflammation or brain tumours: […] brain scans may reveal shrinkage of the back part of the brain as a result of brain cell loss (for example, magnetic resonance imagery (MRI) or computerised tomography (CT)).
#7
https://link.springer.com/article/10.1007/s11940-022-00745-0
The study aims to provide a summary of recent developments for diagnosing and managing posterior cortical atrophy (PCA). […] PCA diagnosis is frequently delayed, and people are likely to receive misdiagnoses of ocular or psychological conditions. […] Diagnosing the PCA clinico-radiological syndrome requires neurological and neuropsychological assessment. […] People with PCA often report a period of years between symptom onset and formal diagnosis. […] Patients may be told they have a psychiatric condition, symptoms related to menopause or be misdiagnosed with having a primary ocular condition or stroke. […] A timely and accurate PCA diagnosis is essential to provide opportunities for management, planning and access to current and anticipated treatments. […] Diagnosis on a syndromic basis requires clinical/neuropsychological and supportive imaging investigations to inform symptom management and support tailored to clinical profile. […] Diagnosis on a disease-specific basis in-vivo relies on molecular biomarker investigations which are increasingly important in the advent of disease-modifying therapies.
#8 Posterior cortical atrophy – Wikipedia
https://en.wikipedia.org/wiki/Posterior_cortical_atrophy
Posterior cortical atrophy (PCA), also called Benson’s syndrome, is a rare form of dementia which is considered a visual variant or an atypical variant of Alzheimer’s disease (AD). […] PCA is often initially misdiagnosed as an anxiety disorder or depression. It has been suggested that depression or anxiety may result from the symptoms of decreased visual function, and the progressive nature of the disease. […] The cause of PCA is unknown, and there are no fully accepted diagnostic criteria for the disease. […] Due to the lack of biomarkers for PCA, neuropsychological examinations are advised. Neuroimaging can also assist in the diagnosis of PCA. […] For PCA and AD neuroimaging is carried out using MRI scans, single-photon emission computed tomography, and positron emission tomography (PET scans). […] The variation and lack of organized clinical testing has led to continued difficulties and delays in the diagnosis of PCA.
#9 Posterior Cortical Atrophy – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK580553/
This activity describes and reviews the role of physicians and nursing providers in evaluating and managing patients with posterior cortical atrophy. […] It reviews the diagnostic criteria via cognitive assessment findings and radiological imaging findings associated with posterior cortical atrophy. […] A new consensus criterion for the diagnosis and classification of PCA was published in 2017. […] The PCA should always be considered among patients presenting with: Spatial disorientation, Problem with Ishihara charts despite a normal color vision, Homonymous visual field defects, Omission of letters on the acuity chart. […] Neuropsychological research criteria for PCA require fulfillment of clinical criteria with an impaired performance below the 5th percentile in at least two of the following four parietal tests object perception, space perception, calculation, spelling, AND evidence of performance above the 5th percentile in recognition memory.
#10 Posterior Cortical Atrophy – MD Searchlight
https://mdsearchlight.com/neurology/posterior-cortical-atrophy/
Posterior cortical atrophy (PCA) is a rare and complex condition that progressively damages particular areas in the brain, primarily the back part, which affects vision and spatial awareness as well as practical skills and literacy. […] In 2017, new guidelines were established for diagnosing and classifying PCA. Using these guidelines, doctors are able to classify PCA into different categories such as PCA-pure, PCA-plus, and other types depending on how the disease presents itself and what the underlying cause might be. This helps doctors and researchers to better understand and manage PCA in a range of different situations. […] The diagnosis of posterior cortical atrophy depends on various clinical factors, showing up in about 5% of patients in specialty cognitive clinics. […] Neurological examinations may not reveal significant findings. However, some patients may have mild walking irregularities due to balance problems linked to visual processing difficulties.
#11
https://medschool.cuanschutz.edu/pca/what-is-pca/what-is-pca
PCA is a condition of the brain that progressively worsens over time and affects areas in the brain that process visual information. […] There is currently no one test that is used to make the diagnosis of PCA. Instead complete eye and neurologic examinations are necessary. Basic laboratory tests and brain imaging are also important components of the evaluation and are necessary in order be certain there is no other cause or treatable condition resulting in the visual symptoms. […] Visual field tests and standard cognitive and thinking tests of attention, memory, language, and executive functions are helpful in differentiating PCA from other problems. […] The classification of PCA allows for communication using a common language and specific criteria. […] Level one establishes the diagnosis of PCA, level two establishes whether there are symptoms and signs that meet diagnostic criteria for other disorders that are present with PCA, and level three establishes whether there are findings on tests (i.e. biomarkers) that provide evidence for a specific disease process in the brain.
#12 Posterior Cortical Atrophy – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK580553/
This activity describes and reviews the role of physicians and nursing providers in evaluating and managing patients with posterior cortical atrophy. […] It reviews the diagnostic criteria via cognitive assessment findings and radiological imaging findings associated with posterior cortical atrophy. […] A new consensus criterion for the diagnosis and classification of PCA was published in 2017. […] The PCA should always be considered among patients presenting with: Spatial disorientation, Problem with Ishihara charts despite a normal color vision, Homonymous visual field defects, Omission of letters on the acuity chart. […] Neuropsychological research criteria for PCA require fulfillment of clinical criteria with an impaired performance below the 5th percentile in at least two of the following four parietal tests object perception, space perception, calculation, spelling, AND evidence of performance above the 5th percentile in recognition memory.
#13 Posterior Cortical Atrophy – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK580553/
This activity describes and reviews the role of physicians and nursing providers in evaluating and managing patients with posterior cortical atrophy. […] It reviews the diagnostic criteria via cognitive assessment findings and radiological imaging findings associated with posterior cortical atrophy. […] A new consensus criterion for the diagnosis and classification of PCA was published in 2017. […] The PCA should always be considered among patients presenting with: Spatial disorientation, Problem with Ishihara charts despite a normal color vision, Homonymous visual field defects, Omission of letters on the acuity chart. […] Neuropsychological research criteria for PCA require fulfillment of clinical criteria with an impaired performance below the 5th percentile in at least two of the following four parietal tests object perception, space perception, calculation, spelling, AND evidence of performance above the 5th percentile in recognition memory.
#14 Azthena logo with the word Azthena
https://www.news-medical.net/news/20240122/Posterior-cortical-atrophy-predicts-Alzheimers-study-finds.aspx
At the time of diagnosis, 61% demonstrated „constructional dyspraxia,” an inability to copy or construct basic diagrams or figures; 49% had „space perception deficit,” difficulties identifying the location of something they saw; and 48% had „simultanagnosia,” an inability to visually perceive more than one object at a time. […] Early identification of PCA may have important implications for Alzheimer’s treatment, said co-first author Renaud La Joie, Ph.D., also of the UCSF Department of Neurology and the Memory and Aging Center. […] Patients with PCA have more tau pathology in the posterior parts of the brain, involved in the processing of visuospatial information, compared to those with other presentations of Alzheimer’s. […] Better understanding of PCA is „crucial for advancing both patient care and for understanding the processes that drive Alzheimer’s disease,” said senior author Gil Rabinovici, M.D., director of the UCSF Alzheimer’s Disease Research Center. „It’s critical that doctors learn to recognize the syndrome so patients can receive the correct diagnosis, counseling and care.”
#15 Posterior cortical atrophy – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/posterior-cortical-atrophy/diagnosis-treatment/drc-20376563
Because the first symptoms are often visual, posterior cortical atrophy can be misdiagnosed as a vision disorder. It’s important to see a neurologist or a neuro-ophthalmologist who can correctly diagnose your condition. A neurologist is trained in brain and nervous system conditions. A neuro-ophthalmologist specializes in neurology and conditions related to vision. […] To diagnose posterior cortical atrophy, a specialist will review your medical history and symptoms. This includes vision problems. The specialist also will conduct a physical exam and a neurological exam. […] Several tests may help diagnose your condition. The tests also might rule out other conditions that may cause similar symptoms. The tests might include: […] Mental status and neuropsychological tests. You will be asked questions and will have tests to assess your cognitive skills. You also may be assessed for depression or other mental disorders.
#16 Posterior Cortical Atrophy | Memory and Aging Center
https://memory.ucsf.edu/tl/node/7601
Posterior cortical atrophy (PCA), also called Bensons syndrome, is a rare, visual variant of Alzheimers disease. […] While there is no definitive test for PCA, neuropsychological evaluation of cognitive skills, blood tests, brain scans, and a neurological exam may help to exclude potentially treatable causes such as infection, inflammation, or brain tumor. […] PCA tends to affect people at an earlier age than typical Alzheimers disease, with individuals often being in their mid-fifties or early sixties when they experience the initial symptoms. […] Although no cure for posterior cortical atrophy exists, several medications, as well as many non-pharmaceutical approaches, can potentially improve daily functioning and quality of life. […] Cholinesterase inhibitors approved for Alzheimers disease, like donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne), can help the symptoms of PCA by boosting the function of brain cells to compensate for damage caused by Alzheimers disease.
#17 Posterior cortical atrophy – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/posterior-cortical-atrophy/diagnosis-treatment/drc-20376563
Because the first symptoms are often visual, posterior cortical atrophy can be misdiagnosed as a vision disorder. It’s important to see a neurologist or a neuro-ophthalmologist who can correctly diagnose your condition. A neurologist is trained in brain and nervous system conditions. A neuro-ophthalmologist specializes in neurology and conditions related to vision. […] To diagnose posterior cortical atrophy, a specialist will review your medical history and symptoms. This includes vision problems. The specialist also will conduct a physical exam and a neurological exam. […] Several tests may help diagnose your condition. The tests also might rule out other conditions that may cause similar symptoms. The tests might include: […] Mental status and neuropsychological tests. You will be asked questions and will have tests to assess your cognitive skills. You also may be assessed for depression or other mental disorders.
#18 Posterior Cortical Atrophy
https://medschool.cuanschutz.edu/alzheimer/education/posterior-cortical-atrophy
Posterior Cortical Atrophy, or PCA, is most commonly an atypical clinical presentation of Alzheimers disease. […] PCA can contribute to problems remembering visual information because the brain did not properly process it. […] There is no one test that can be used to make the diagnosis of PCA. Instead, complete eye and neurologic examinations are necessary to make sure there are no other causes of the visual symptoms, and basic laboratory tests and brain imaging are also important components of the evaluation. […] Visual field tests are often ordered by ophthalmologists or optometrists when trying to determine the cause of a persons visual problem when an examination of the eye does not allow for a diagnosis. […] Also important to the diagnosis are the cognitive tests of attention, memory, language, and executive functions that are helpful in differentiating PCA from other problems.
#19 Posterior cortical atrophy – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/posterior-cortical-atrophy/diagnosis-treatment/drc-20376563
Blood tests. Your blood may be tested for vitamin deficiency, thyroid disorders and other conditions that may be causing your symptoms. […] Ophthalmology exam. A vision test can determine whether another condition such as a problem within your eyes is causing your vision symptoms. […] Magnetic resonance imaging (MRI). An MRI machine uses powerful radio waves and a magnetic field to create a 3D view of your brain. In this test, your health care provider can view changes in your brain that may be causing your symptoms. […] Fluorodeoxyglucose (FDG) PET imaging or single-photon emission computerized tomography (SPECT). In these tests, a small amount of radioactive material is injected into a vein. Images are taken using a large machine. You’ll lie on a padded table that slides into the part of the machine that looks like a doughnut hole. PET provides visual images of brain activity. SPECT measures blood flow to regions of the brain. […] Spinal fluid test. This test involves removing a small amount of the fluid that cushions the brain and spinal cord. This test can measure amyloid and tau proteins that are the hallmark of Alzheimer’s disease. […] Diagnostic evaluation and monitoring of patients with posterior cortical atrophy.
#20 Posterior Cortical Atrophy
https://medschool.cuanschutz.edu/alzheimer/education/posterior-cortical-atrophy
Posterior Cortical Atrophy, or PCA, is most commonly an atypical clinical presentation of Alzheimers disease. […] PCA can contribute to problems remembering visual information because the brain did not properly process it. […] There is no one test that can be used to make the diagnosis of PCA. Instead, complete eye and neurologic examinations are necessary to make sure there are no other causes of the visual symptoms, and basic laboratory tests and brain imaging are also important components of the evaluation. […] Visual field tests are often ordered by ophthalmologists or optometrists when trying to determine the cause of a persons visual problem when an examination of the eye does not allow for a diagnosis. […] Also important to the diagnosis are the cognitive tests of attention, memory, language, and executive functions that are helpful in differentiating PCA from other problems.
#21 Posterior cortical atrophy – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/posterior-cortical-atrophy/diagnosis-treatment/drc-20376563
Blood tests. Your blood may be tested for vitamin deficiency, thyroid disorders and other conditions that may be causing your symptoms. […] Ophthalmology exam. A vision test can determine whether another condition such as a problem within your eyes is causing your vision symptoms. […] Magnetic resonance imaging (MRI). An MRI machine uses powerful radio waves and a magnetic field to create a 3D view of your brain. In this test, your health care provider can view changes in your brain that may be causing your symptoms. […] Fluorodeoxyglucose (FDG) PET imaging or single-photon emission computerized tomography (SPECT). In these tests, a small amount of radioactive material is injected into a vein. Images are taken using a large machine. You’ll lie on a padded table that slides into the part of the machine that looks like a doughnut hole. PET provides visual images of brain activity. SPECT measures blood flow to regions of the brain. […] Spinal fluid test. This test involves removing a small amount of the fluid that cushions the brain and spinal cord. This test can measure amyloid and tau proteins that are the hallmark of Alzheimer’s disease. […] Diagnostic evaluation and monitoring of patients with posterior cortical atrophy.
#22 Posterior cortical atrophy – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/posterior-cortical-atrophy/diagnosis-treatment/drc-20376563
Blood tests. Your blood may be tested for vitamin deficiency, thyroid disorders and other conditions that may be causing your symptoms. […] Ophthalmology exam. A vision test can determine whether another condition such as a problem within your eyes is causing your vision symptoms. […] Magnetic resonance imaging (MRI). An MRI machine uses powerful radio waves and a magnetic field to create a 3D view of your brain. In this test, your health care provider can view changes in your brain that may be causing your symptoms. […] Fluorodeoxyglucose (FDG) PET imaging or single-photon emission computerized tomography (SPECT). In these tests, a small amount of radioactive material is injected into a vein. Images are taken using a large machine. You’ll lie on a padded table that slides into the part of the machine that looks like a doughnut hole. PET provides visual images of brain activity. SPECT measures blood flow to regions of the brain. […] Spinal fluid test. This test involves removing a small amount of the fluid that cushions the brain and spinal cord. This test can measure amyloid and tau proteins that are the hallmark of Alzheimer’s disease. […] Diagnostic evaluation and monitoring of patients with posterior cortical atrophy.
#23 Posterior cortical atrophy | Radiology Reference Article | Radiopaedia.org
https://radiopaedia.org/articles/posterior-cortical-atrophy?lang=us
Posterior cortical atrophy is generally diagnosed in the sixth and seventh decades (50-65 years of age) with no sex predilection. […] Incidence is largely unknown due to the lack of general awareness of the condition and the lack of consistently applied diagnostic criteria. As such, the entity is likely underrecognized. […] MRI is the modality of choice for assessing patients with neurodegenerative diseases, although CT may allow gross volume changes to be appreciated. Nuclear medicine functional studies are also of benefit. […] The main findings are bilateral, but often more pronounced right-sided, parietal and parieto-occipital and temporo-occipital atrophy. […] SPECT and PET demonstrate hypoperfusion and hypometabolism in the same areas as affected by atrophy and these changes may precede morphological change.
#24 Posterior cortical atrophy – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/posterior-cortical-atrophy/diagnosis-treatment/drc-20376563
Blood tests. Your blood may be tested for vitamin deficiency, thyroid disorders and other conditions that may be causing your symptoms. […] Ophthalmology exam. A vision test can determine whether another condition such as a problem within your eyes is causing your vision symptoms. […] Magnetic resonance imaging (MRI). An MRI machine uses powerful radio waves and a magnetic field to create a 3D view of your brain. In this test, your health care provider can view changes in your brain that may be causing your symptoms. […] Fluorodeoxyglucose (FDG) PET imaging or single-photon emission computerized tomography (SPECT). In these tests, a small amount of radioactive material is injected into a vein. Images are taken using a large machine. You’ll lie on a padded table that slides into the part of the machine that looks like a doughnut hole. PET provides visual images of brain activity. SPECT measures blood flow to regions of the brain. […] Spinal fluid test. This test involves removing a small amount of the fluid that cushions the brain and spinal cord. This test can measure amyloid and tau proteins that are the hallmark of Alzheimer’s disease. […] Diagnostic evaluation and monitoring of patients with posterior cortical atrophy.
#25 Posterior cortical atrophy | Radiology Reference Article | Radiopaedia.org
https://radiopaedia.org/articles/posterior-cortical-atrophy?lang=us
Posterior cortical atrophy is generally diagnosed in the sixth and seventh decades (50-65 years of age) with no sex predilection. […] Incidence is largely unknown due to the lack of general awareness of the condition and the lack of consistently applied diagnostic criteria. As such, the entity is likely underrecognized. […] MRI is the modality of choice for assessing patients with neurodegenerative diseases, although CT may allow gross volume changes to be appreciated. Nuclear medicine functional studies are also of benefit. […] The main findings are bilateral, but often more pronounced right-sided, parietal and parieto-occipital and temporo-occipital atrophy. […] SPECT and PET demonstrate hypoperfusion and hypometabolism in the same areas as affected by atrophy and these changes may precede morphological change.
#26 Posterior Cortical Atrophy in Alzheimer Disease
https://decisionpoint.medscape.com/neurology/viewarticle/985528
The most common etiologic association of posterior cortical atrophy syndrome is Alzheimer’s disease, but given this broad differential, a positive diagnosis should be sought with biomarker data that can be in the form of cerebrospinal fluid testing for amyloid beta in tau species or positron emission tomography with amyloid and TauPET imaging. […] With the advent of etiologic-specific disease-modifying therapies, establishing the presence of these etiologic factors will be important for management and counseling. […] In terms of pharmacologic management, the same strategies employed for a typical Alzheimer’s disease should be used in this variant of Alzheimer’s disease. […] Following the diagnostic criteria proposed by the DLB consortium, individuals must exhibit two or more core features of DLBs or one or more core features and one or more suggestive features. […] Following International Working Group (IWG)-2, the classification of PCA-AD requires fulfillment of the PCA syndrome plus in vivo evidence of Alzheimer’s pathology.
#27 Posterior cortical atrophy – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/posterior-cortical-atrophy/diagnosis-treatment/drc-20376563
Blood tests. Your blood may be tested for vitamin deficiency, thyroid disorders and other conditions that may be causing your symptoms. […] Ophthalmology exam. A vision test can determine whether another condition such as a problem within your eyes is causing your vision symptoms. […] Magnetic resonance imaging (MRI). An MRI machine uses powerful radio waves and a magnetic field to create a 3D view of your brain. In this test, your health care provider can view changes in your brain that may be causing your symptoms. […] Fluorodeoxyglucose (FDG) PET imaging or single-photon emission computerized tomography (SPECT). In these tests, a small amount of radioactive material is injected into a vein. Images are taken using a large machine. You’ll lie on a padded table that slides into the part of the machine that looks like a doughnut hole. PET provides visual images of brain activity. SPECT measures blood flow to regions of the brain. […] Spinal fluid test. This test involves removing a small amount of the fluid that cushions the brain and spinal cord. This test can measure amyloid and tau proteins that are the hallmark of Alzheimer’s disease. […] Diagnostic evaluation and monitoring of patients with posterior cortical atrophy.
#28 Posterior Cortical Atrophy – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK580553/
The proposed algorithmic steps suggested during the evaluation of PCA include: Is it neurodegenerative pathology? Is it a posteriorly based cortical entity? Is it pure PCA or PCA plus Alzheimer disease (AD), Lewi body dementia (LBD), corticobasal degeneration (CBD), or prion lesion? Does it have positivity to any pertinent biomarkers such as cerebrospinal fluid (CSF) Ab 1-42, Tau, p-Tau for AD, and 14-3-3 protein for prion disease? […] Data on anticholinesterase inhibitors in PCA is lacking. […] It is of paramount importance that an early diagnosis is made so that safety measures are implemented on time, such as ensuring safety by avoiding driving, removing unsafe furniture, and ensuring safety adaptations to the home settings. […] Early recognition of the deficits and making a prompt diagnosis are essential in preventing falls and avoiding driving accidents. […] Patients with posterior cortical atrophy have progressive deterioration of visuospatial and visuoperceptual abilities.
#29 Posterior Cortical Atrophy – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK580553/
The proposed algorithmic steps suggested during the evaluation of PCA include: Is it neurodegenerative pathology? Is it a posteriorly based cortical entity? Is it pure PCA or PCA plus Alzheimer disease (AD), Lewi body dementia (LBD), corticobasal degeneration (CBD), or prion lesion? Does it have positivity to any pertinent biomarkers such as cerebrospinal fluid (CSF) Ab 1-42, Tau, p-Tau for AD, and 14-3-3 protein for prion disease? […] Data on anticholinesterase inhibitors in PCA is lacking. […] It is of paramount importance that an early diagnosis is made so that safety measures are implemented on time, such as ensuring safety by avoiding driving, removing unsafe furniture, and ensuring safety adaptations to the home settings. […] Early recognition of the deficits and making a prompt diagnosis are essential in preventing falls and avoiding driving accidents. […] Patients with posterior cortical atrophy have progressive deterioration of visuospatial and visuoperceptual abilities.
#30
https://link.springer.com/article/10.1007/s11940-022-00745-0
The study aims to provide a summary of recent developments for diagnosing and managing posterior cortical atrophy (PCA). […] PCA diagnosis is frequently delayed, and people are likely to receive misdiagnoses of ocular or psychological conditions. […] Diagnosing the PCA clinico-radiological syndrome requires neurological and neuropsychological assessment. […] People with PCA often report a period of years between symptom onset and formal diagnosis. […] Patients may be told they have a psychiatric condition, symptoms related to menopause or be misdiagnosed with having a primary ocular condition or stroke. […] A timely and accurate PCA diagnosis is essential to provide opportunities for management, planning and access to current and anticipated treatments. […] Diagnosis on a syndromic basis requires clinical/neuropsychological and supportive imaging investigations to inform symptom management and support tailored to clinical profile. […] Diagnosis on a disease-specific basis in-vivo relies on molecular biomarker investigations which are increasingly important in the advent of disease-modifying therapies.
#31 Orphanet: Posterior cortical atrophy
https://www.orpha.net/en/disease/detail/54247
A rare neurologic disease characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages, and atrophy of posterior brain regions. […] Posterior Cortical Atrophy (PCA) prevalence is unknown, largely due to the lack of awareness of the syndrome, delayed diagnosis and the variable terminology referring to it (now partially addressed through international consensus criteria). […] PCA is an under-recognized disorder resulting often in a significant delay in diagnosis. Diagnosis of this clinico-radiological syndrome is based on neurological assessment, specific visual and cognitive testing, and (optional supportive) brain imaging and routine blood tests. MRI characteristically shows bilateral atrophy in the occipital, parietal and posterior temporal lobes, often asymmetric being more pronounced in the right hemisphere. Single photon emission computed tomography (SPECT) or PET show hypometabolism of the posterior cerebral areas as well as in the frontal eye fields in more advanced stages. Conclusive diagnosis of the underlying disease is confirmed on brain autopsy, though CSF and amyloid imaging may help to refine the clinical diagnosis. […] Differential diagnosis includes the most commonly associated neuropathology Alzheimer disease, but may also include Lewy body disease, cortico-basal degeneration, and prion diseases such as Creutzfeldt-Jakob disease.
#32 Posterior cortical atrophy – Symptoms and causes – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/posterior-cortical-atrophy/symptoms-causes/syc-20376560
Posterior cortical atrophy is a brain and nervous system syndrome that causes brain cells to die over time. […] In more than 80% of cases, posterior cortical atrophy is due to Alzheimer’s disease. […] The most common cause of posterior cortical atrophy is a form of Alzheimer’s disease that’s not typical. […] Further study is needed to determine whether the risk factors for Alzheimer’s disease may play a role in posterior cortical atrophy. […] Diagnostic evaluation and monitoring of patients with posterior cortical atrophy.
#33 Diagnosis and Management of Posterior Cortical Atrophy
https://pmc.ncbi.nlm.nih.gov/articles/PMC9935654/
The study aims to provide a summary of recent developments for diagnosing and managing posterior cortical atrophy (PCA). […] PCA diagnosis is frequently delayed, and people are likely to receive misdiagnoses of ocular or psychological conditions. […] Currently, management should be tailored to each individual’s symptoms and particular challenges associated with PCA. […] Diagnosing the PCA clinico-radiological syndrome requires neurological and neuropsychological assessment. […] People with PCA often report a period of years between symptom onset and formal diagnosis. […] Assessing visual functions in PCA may be complicated by a combination of cortical visual and eye movement abnormalities. […] Biomarkers are incorporated in both syndrome- and disease-level descriptions of PCA, being of key importance in establishing a neurodegenerative basis, providing supportive evidence of posterior cortical atrophy/dysfunction and determining underlying pathology. […] A timely and accurate PCA diagnosis is essential to provide opportunities for management, planning and access to current and anticipated treatments. […] PCA consensus criteria incorporate syndrome- and disease-level descriptions.
#34 Diagnosis and Management of Posterior Cortical Atrophy
https://pmc.ncbi.nlm.nih.gov/articles/PMC9935654/
The study aims to provide a summary of recent developments for diagnosing and managing posterior cortical atrophy (PCA). […] PCA diagnosis is frequently delayed, and people are likely to receive misdiagnoses of ocular or psychological conditions. […] Currently, management should be tailored to each individual’s symptoms and particular challenges associated with PCA. […] Diagnosing the PCA clinico-radiological syndrome requires neurological and neuropsychological assessment. […] People with PCA often report a period of years between symptom onset and formal diagnosis. […] Assessing visual functions in PCA may be complicated by a combination of cortical visual and eye movement abnormalities. […] Biomarkers are incorporated in both syndrome- and disease-level descriptions of PCA, being of key importance in establishing a neurodegenerative basis, providing supportive evidence of posterior cortical atrophy/dysfunction and determining underlying pathology. […] A timely and accurate PCA diagnosis is essential to provide opportunities for management, planning and access to current and anticipated treatments. […] PCA consensus criteria incorporate syndrome- and disease-level descriptions.
#35 A Patient with Posterior Cortical Atrophy Possesses a Novel Mutation in the Presenilin 1 Gene | PLOS One
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0061074
More recently it was shown that a mutation in prion protein gene (PRNP), or PSEN1 gene (Q223R) were associated with PCA phenotype. […] Here we present a patient with clinically diagnosed PCA harboring a I211M mutation in PSEN1. […] The I211M mutation could be causative, as the mutation was absent in large groups of control subjects and early-onset AD cases from the Polish population. […] The proband presents a biomarker signature atypical for AD, albeit, with elevated p-tau (97 pg/ml) and slightly elevated t-tau (418 pg/ml) levels, which is consistent with an AD signature. […] In summary, we report a novel PSEN1 I211M mutation, which could be causally connected with the PCA phenotype.
#36 A Patient with Posterior Cortical Atrophy Possesses a Novel Mutation in the Presenilin 1 Gene | PLOS One
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0061074
More recently it was shown that a mutation in prion protein gene (PRNP), or PSEN1 gene (Q223R) were associated with PCA phenotype. […] Here we present a patient with clinically diagnosed PCA harboring a I211M mutation in PSEN1. […] The I211M mutation could be causative, as the mutation was absent in large groups of control subjects and early-onset AD cases from the Polish population. […] The proband presents a biomarker signature atypical for AD, albeit, with elevated p-tau (97 pg/ml) and slightly elevated t-tau (418 pg/ml) levels, which is consistent with an AD signature. […] In summary, we report a novel PSEN1 I211M mutation, which could be causally connected with the PCA phenotype.
#37 Clinical and neuroimaging differences between posterior cortical atrophy and typical amnestic Alzheimerâs disease patients at an early disease stage | Scientific Reports
https://www.nature.com/articles/srep29372
To identify clinical and neuroimaging characteristics between posterior cortical atrophy (PCA) and typical amnestic Alzheimers disease (tAD) patients at an early disease stage, 16 PCA and 13 age-matched tAD patients were enrolled. […] Diagnosis of PCA depends on core clinical features, which is further supported by neuroimaging and neuropathological evidence. […] Compared with tAD patients, PCA patients show greater atrophy in the right occipitotemporal cortex. […] Moreover, voxel-based image analysis of 18F-fluoro-deoxyglucose-PET (FDG-PET) in tAD patients suggests the earliest hypometabolic regions occurs in the posterior cingulate cortex and mesial temporal structures. In contrast, the initial hypometabolic region in PCA patients is located in the primary visual cortex and the visual associated cortices.
#38 Azthena logo with the word Azthena
https://www.news-medical.net/news/20240122/Posterior-cortical-atrophy-predicts-Alzheimers-study-finds.aspx
At the time of diagnosis, 61% demonstrated „constructional dyspraxia,” an inability to copy or construct basic diagrams or figures; 49% had „space perception deficit,” difficulties identifying the location of something they saw; and 48% had „simultanagnosia,” an inability to visually perceive more than one object at a time. […] Early identification of PCA may have important implications for Alzheimer’s treatment, said co-first author Renaud La Joie, Ph.D., also of the UCSF Department of Neurology and the Memory and Aging Center. […] Patients with PCA have more tau pathology in the posterior parts of the brain, involved in the processing of visuospatial information, compared to those with other presentations of Alzheimer’s. […] Better understanding of PCA is „crucial for advancing both patient care and for understanding the processes that drive Alzheimer’s disease,” said senior author Gil Rabinovici, M.D., director of the UCSF Alzheimer’s Disease Research Center. „It’s critical that doctors learn to recognize the syndrome so patients can receive the correct diagnosis, counseling and care.”
#39 Posterior cortical atrophy – Wikipedia
https://en.wikipedia.org/wiki/Posterior_cortical_atrophy
Posterior cortical atrophy (PCA), also called Benson’s syndrome, is a rare form of dementia which is considered a visual variant or an atypical variant of Alzheimer’s disease (AD). […] PCA is often initially misdiagnosed as an anxiety disorder or depression. It has been suggested that depression or anxiety may result from the symptoms of decreased visual function, and the progressive nature of the disease. […] The cause of PCA is unknown, and there are no fully accepted diagnostic criteria for the disease. […] Due to the lack of biomarkers for PCA, neuropsychological examinations are advised. Neuroimaging can also assist in the diagnosis of PCA. […] For PCA and AD neuroimaging is carried out using MRI scans, single-photon emission computed tomography, and positron emission tomography (PET scans). […] The variation and lack of organized clinical testing has led to continued difficulties and delays in the diagnosis of PCA.
#40 SSA – POMS: DI 23022.643 – Posterior Cortical Atrophy – 08/10/2022
https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022643
Posterior Cortical Atrophy (PCA) is a rare neurologic disease characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages. PCA causes atrophy of the posterior part of the cerebral cortex, resulting in the progressive disruption of complex visual processing. […] The cause of PCA is unknown, and there are no fully accepted diagnostic criteria for the disease. This is partially due to the gradual onset of PCA symptoms, their variety, the rare nature of the disease, and the younger age of onset. […] Neuroimaging (MRI, CAT scan) showing atrophy affecting occipital, parietal, and posterior temporal lobes bilaterally, many with more severe change on the right; and […] Suggested MER for Evaluation: Clinical history and examination that describes the diagnostic features of the impairment; and […] Neuroimaging.
#41 Posterior cortical atrophy: a dementia that affects the vision â DPUK
https://www.dementiasplatform.uk/news-and-media/blog/posterior-cortical-atrophy-a-dementia-that-affects-the-vision
Posterior cortical atrophy (PCA) is a type of young-onset dementia affecting vision that is caused not by problems with the eyes, but by damage to the back of the brain. […] PCA most commonly occurs at age 50-65, but there is often a long delay in reaching a diagnosis. This is because diagnosis usually starts with an eye test that shows no issue with the persons eyes. […] There are also no standard criteria for diagnosis yet, meaning doctors must rule out other potential reasons for the symptoms before reaching a diagnosis of PCA this uses up precious time. […] A team at University College London has been running a long-term study of PCA since 2005 to improve characterisation and diagnosis of PCA.
#42 Posterior Cortical Atrophy – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK580553/
The proposed algorithmic steps suggested during the evaluation of PCA include: Is it neurodegenerative pathology? Is it a posteriorly based cortical entity? Is it pure PCA or PCA plus Alzheimer disease (AD), Lewi body dementia (LBD), corticobasal degeneration (CBD), or prion lesion? Does it have positivity to any pertinent biomarkers such as cerebrospinal fluid (CSF) Ab 1-42, Tau, p-Tau for AD, and 14-3-3 protein for prion disease? […] Data on anticholinesterase inhibitors in PCA is lacking. […] It is of paramount importance that an early diagnosis is made so that safety measures are implemented on time, such as ensuring safety by avoiding driving, removing unsafe furniture, and ensuring safety adaptations to the home settings. […] Early recognition of the deficits and making a prompt diagnosis are essential in preventing falls and avoiding driving accidents. […] Patients with posterior cortical atrophy have progressive deterioration of visuospatial and visuoperceptual abilities.
#43
https://link.springer.com/article/10.1007/s11940-022-00745-0
The study aims to provide a summary of recent developments for diagnosing and managing posterior cortical atrophy (PCA). […] PCA diagnosis is frequently delayed, and people are likely to receive misdiagnoses of ocular or psychological conditions. […] Diagnosing the PCA clinico-radiological syndrome requires neurological and neuropsychological assessment. […] People with PCA often report a period of years between symptom onset and formal diagnosis. […] Patients may be told they have a psychiatric condition, symptoms related to menopause or be misdiagnosed with having a primary ocular condition or stroke. […] A timely and accurate PCA diagnosis is essential to provide opportunities for management, planning and access to current and anticipated treatments. […] Diagnosis on a syndromic basis requires clinical/neuropsychological and supportive imaging investigations to inform symptom management and support tailored to clinical profile. […] Diagnosis on a disease-specific basis in-vivo relies on molecular biomarker investigations which are increasingly important in the advent of disease-modifying therapies.
#44 Azthena logo with the word Azthena
https://www.news-medical.net/news/20240122/Posterior-cortical-atrophy-predicts-Alzheimers-study-finds.aspx
At the time of diagnosis, 61% demonstrated „constructional dyspraxia,” an inability to copy or construct basic diagrams or figures; 49% had „space perception deficit,” difficulties identifying the location of something they saw; and 48% had „simultanagnosia,” an inability to visually perceive more than one object at a time. […] Early identification of PCA may have important implications for Alzheimer’s treatment, said co-first author Renaud La Joie, Ph.D., also of the UCSF Department of Neurology and the Memory and Aging Center. […] Patients with PCA have more tau pathology in the posterior parts of the brain, involved in the processing of visuospatial information, compared to those with other presentations of Alzheimer’s. […] Better understanding of PCA is „crucial for advancing both patient care and for understanding the processes that drive Alzheimer’s disease,” said senior author Gil Rabinovici, M.D., director of the UCSF Alzheimer’s Disease Research Center. „It’s critical that doctors learn to recognize the syndrome so patients can receive the correct diagnosis, counseling and care.”
#45 Orphanet: Posterior cortical atrophy
https://www.orpha.net/en/disease/detail/54247
A rare neurologic disease characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages, and atrophy of posterior brain regions. […] Posterior Cortical Atrophy (PCA) prevalence is unknown, largely due to the lack of awareness of the syndrome, delayed diagnosis and the variable terminology referring to it (now partially addressed through international consensus criteria). […] PCA is an under-recognized disorder resulting often in a significant delay in diagnosis. Diagnosis of this clinico-radiological syndrome is based on neurological assessment, specific visual and cognitive testing, and (optional supportive) brain imaging and routine blood tests. MRI characteristically shows bilateral atrophy in the occipital, parietal and posterior temporal lobes, often asymmetric being more pronounced in the right hemisphere. Single photon emission computed tomography (SPECT) or PET show hypometabolism of the posterior cerebral areas as well as in the frontal eye fields in more advanced stages. Conclusive diagnosis of the underlying disease is confirmed on brain autopsy, though CSF and amyloid imaging may help to refine the clinical diagnosis. […] Differential diagnosis includes the most commonly associated neuropathology Alzheimer disease, but may also include Lewy body disease, cortico-basal degeneration, and prion diseases such as Creutzfeldt-Jakob disease.
#46
https://medschool.cuanschutz.edu/pca/what-is-pca/what-is-pca
Currently, there are only conclusive biological marker tests available for Alzheimers disease and Prion Disease. […] However, it should be emphasized that there is no agreed-upon criteria for VVAD but there is consensus criteria for PCA, which is discussed above. […] PCA syndrome leads to dementia. […] To make a definite diagnosis of Alzheimers disease one must have markers of Alzheimers brain disease on autopsy or in spinal fluid, where we look for abnormal accumulation of amyloid and tau proteins. […] There are no curative treatments for Alzheimers disease, but supportive therapies and medications for Alzheimers disease that have been proven effective. […] There are no curative treatments for LBD, but supportive therapies and medications have been shown to help symptoms. […] There are no curative treatments for CBD, but supportive care and some medications can help ease symptoms. […] There is currently no cure or treatment for prion disease and survival is typically less than 1-2 years after the development of the first symptom.
#47
https://medschool.cuanschutz.edu/pca/what-is-pca/what-is-pca
Currently, there are only conclusive biological marker tests available for Alzheimers disease and Prion Disease. […] However, it should be emphasized that there is no agreed-upon criteria for VVAD but there is consensus criteria for PCA, which is discussed above. […] PCA syndrome leads to dementia. […] To make a definite diagnosis of Alzheimers disease one must have markers of Alzheimers brain disease on autopsy or in spinal fluid, where we look for abnormal accumulation of amyloid and tau proteins. […] There are no curative treatments for Alzheimers disease, but supportive therapies and medications for Alzheimers disease that have been proven effective. […] There are no curative treatments for LBD, but supportive therapies and medications have been shown to help symptoms. […] There are no curative treatments for CBD, but supportive care and some medications can help ease symptoms. […] There is currently no cure or treatment for prion disease and survival is typically less than 1-2 years after the development of the first symptom.
#48 Posterior Cortical Atrophy in Alzheimer Disease
https://decisionpoint.medscape.com/neurology/viewarticle/985528
The most common etiologic association of posterior cortical atrophy syndrome is Alzheimer’s disease, but given this broad differential, a positive diagnosis should be sought with biomarker data that can be in the form of cerebrospinal fluid testing for amyloid beta in tau species or positron emission tomography with amyloid and TauPET imaging. […] With the advent of etiologic-specific disease-modifying therapies, establishing the presence of these etiologic factors will be important for management and counseling. […] In terms of pharmacologic management, the same strategies employed for a typical Alzheimer’s disease should be used in this variant of Alzheimer’s disease. […] Following the diagnostic criteria proposed by the DLB consortium, individuals must exhibit two or more core features of DLBs or one or more core features and one or more suggestive features. […] Following International Working Group (IWG)-2, the classification of PCA-AD requires fulfillment of the PCA syndrome plus in vivo evidence of Alzheimer’s pathology.
#49 Posterior Cortical Atrophy in Alzheimer Disease
https://decisionpoint.medscape.com/neurology/viewarticle/985528
The most common etiologic association of posterior cortical atrophy syndrome is Alzheimer’s disease, but given this broad differential, a positive diagnosis should be sought with biomarker data that can be in the form of cerebrospinal fluid testing for amyloid beta in tau species or positron emission tomography with amyloid and TauPET imaging. […] With the advent of etiologic-specific disease-modifying therapies, establishing the presence of these etiologic factors will be important for management and counseling. […] In terms of pharmacologic management, the same strategies employed for a typical Alzheimer’s disease should be used in this variant of Alzheimer’s disease. […] Following the diagnostic criteria proposed by the DLB consortium, individuals must exhibit two or more core features of DLBs or one or more core features and one or more suggestive features. […] Following International Working Group (IWG)-2, the classification of PCA-AD requires fulfillment of the PCA syndrome plus in vivo evidence of Alzheimer’s pathology.
#50 The Progression of Posterior Cortical Atrophy to Corticobasal Syndrome: Lumping or Splitting Neurodegenerative Diseases? | Tremor and Other Hyperkinetic Movements
https://tremorjournal.org/articles/10.5334/tohm.207
Corticobasal syndrome (CBS) is a clinical phenotype that may be associated with a variety of neurodegenerative diseases. […] The patient was included in a periodic program of visits to our memory clinic, and she attended our outpatient laboratory twice a year in the following years. […] CBS was the final diagnosis on the basis of recently established diagnostic criteria. […] Several clinical syndromes can be caused by different underlying neuropathologies. PCA and CBS share similar pathogenetic mechanisms, and the same neuropathologic conditions might underlie both conditions, albeit in different proportions. […] There are currently no methods to ascertain the underlying pathology while the patient is alive, with the exception of the assessment of amyloid burden with Pittsburg compound B (PiB) positron emission tomography.
#51 Posterior Cortical Atrophy – Rare Dementias – Topic guides at Dementia Australia Library Service
https://dementia-org.libguides.com/c.php?g=951857&p=6903873
This information has been developed to assist your understanding of posterior cortical atrophy and its symptoms, diagnosis, progression and treatment. […] This booklet is for anyone who wants to know more about posterior cortical atrophy (PCA), an uncommon type of dementia. It provides an overview of the causes, symptoms, diagnosis and treatments for PCA. […] The study aims to provide a summary of recent developments for diagnosing and managing posterior cortical atrophy (PCA). […] Posterior cortical atrophy (PCA) is a neurodegenerative syndrome that is characterised by progressive decline in visuospatial, visuoperceptual, literacy, and praxic skills. […] This heterogeneity has led to inconsistencies in diagnosis and terminology and difficulties in comparing studies from different centres, and has restricted the generalisability of findings from clinical trials and investigations of factors that drive phenotypic variability. […] Posterior cortical atrophy PCA is one of the rarer types of young onset dementia, initially affecting vision while often leaving memory intact.
#52 Diagnosis and management of posterior cortical atrophy – CentAUR
https://centaur.reading.ac.uk/110707/
Purpose of review: The study aims to provide a summary of recent developments for diagnosing and managing posterior cortical atrophy (PCA). […] Recent findings: Recent multi-centre consensus recommendations provide PCA criteria with implications for different management strategies (e.g. targeting clinical features and/or disease). […] PCA diagnosis is frequently delayed, and people are likely to receive misdiagnoses of ocular or psychological conditions. […] Current treatment of PCA is symptomatic pharmacological and non-pharmacological and the use of most treatment options is based on small studies or expert opinion. […] An accurate and timely diagnosis of PCA and determining underlying pathology is of increasing importance in the advent of disease-modifying therapies for AD and other albeit rare causes of PCA.
#53 3144âConsensus to clinic: enhancing diagnostics for posterior cortical atrophy | BMJ Neurology Open
https://neurologyopen.bmj.com/content/6/Suppl_1/A43.3
Nearly thirty thousand Australians under the age of 65 live with dementia. Posterior Cortical Atrophy (PCA) is one form of young onset atypical dementia, often caused by Alzheimer disease. Due to its rarity, atypical phenotype and young onset, the diagnosis is often missed for years. A consensus expert opinion diagnostic framework was created in 2017 to reduce delays to diagnosis. We aimed to test the validity of this framework in a real-world PCA population. […] Thirty (93.8%) ECDC clinician diagnosed PCA patients fulfilled the criteria: cognitive features correlated well with the framework for the top four features (visuo-spatial and -perceptual deficits, simultanagnosia, constructional apraxia). […] Our patients cognitive features closely aligned with the consensus framework, corroborating its real-world applicability. Neuroradiological reporting was identified as a key challenge. This represents new Australian data on PCA syndromic diagnosis.