Atrofia korowej tylna – Epidemiologia

Atrofia korowej tylna
Epidemiologia

Atrofia korowa tylna (PCA) to rzadka forma demencji, charakteryzująca się postępującą degeneracją kory mózgowej w obszarze potyliczno-ciemieniowym, z dominującym początkiem objawów w wieku 50-65 lat (średnio 58,9 lat). PCA stanowi około 5-15% przypadków choroby Alzheimera o wczesnym początku i dotyka głównie kobiety, choć dane dotyczące różnic płci są niejednoznaczne. Etiologia PCA jest najczęściej związana z chorobą Alzheimera (80-94% przypadków), ale także z chorobą z ciałami Lewy’ego (ok. 10%) i zwyrodnieniem korowo-podstawnym (CBD, ok. 22%). Diagnostyka jest utrudniona przez nietypową prezentację objawów (początkowo deficyty wzrokowe), brak specyficznych biomarkerów oraz opóźnienia w rozpoznaniu, co wpływa na niedoszacowanie częstości występowania i chorobowości PCA.

Epidemiologia atrofii korowej tylnej

Wiek zachorowania
Rozpowszechnienie
Różnice płciowe

Etiologia i patofizjologia PCA w kontekście epidemiologii
Nadzór i monitoring epidemiologiczny

Problemy diagnostyczne wpływające na dane epidemiologiczne
Inicjatywy badawcze i monitorowanie
Znaczenie poprawy diagnostyki dla danych epidemiologicznych

Rokowanie i przebieg naturalny

Wsparcie i opieka w kontekście epidemiologii

Przyszłe kierunki badań epidemiologicznych

Kolejne rozdziały

Epidemiologia atrofii korowej tylnej

Atrofia korowa tylna (PCA, ang. Posterior Cortical Atrophy), znana również jako zespół Bensona, jest rzadką formą demencji charakteryzującą się postępującą degeneracją kory mózgowej w tylnej części mózgu (obszar potyliczno-ciemieniowy). Dokładna ocena zapadalności i chorobowości w przypadku atrofii korowej tylnej jest trudna ze względu na zmieniające się definicje, względną rzadkość zaburzenia oraz brak powszechnie stosowanych kryteriów diagnostycznych¹².

Wiek zachorowania

Atrofia korowa tylna zazwyczaj pojawia się we wcześniejszym wieku niż typowa choroba Alzheimera. Międzynarodowe badanie obejmujące 302 pacjentów z PCA wykazało szczyt zachorowań między 50. a 65. rokiem życia, ze zmniejszającą się częstością występowania wraz z wiekiem. Średni wiek pojawienia się objawów został określony na 58,9 lat¹. Większość pacjentów doświadcza pierwszych objawów w wieku 50-65 lat, co czyni PCA formą demencji wczesnego początku³⁴.

Rozpowszechnienie

Dokładne dane epidemiologiczne dotyczące PCA są ograniczone z kilku powodów:

Brak powszechnej świadomości istnienia tego zespołu⁵²
Opóźniona diagnoza wynikająca z rzadkości choroby⁶
Zmienna terminologia stosowana do opisu schorzenia⁵
Brak standardowej definicji i ustalonych kryteriów diagnostycznych⁷⁸

Według różnych źródeł, PCA dotyka około 5% osób z chorobą Alzheimera w specjalistycznych klinikach zaburzeń poznawczych, choć wskaźnik ten może wzrosnąć do 13% w przypadku danych dotyczących choroby Alzheimera o wczesnym początku¹⁹. Z powodu niedostatecznego rozpoznawania schorzenia, rzeczywisty odsetek może być jednak wyższy i sięgać nawet 15%¹⁰.

W Wielkiej Brytanii szacuje się, że około 850 000 osób żyje z demencją, z czego około 5% (42 500) stanowią przypadki demencji o wczesnym początku, z objawami rozpoczynającymi się przed 65. rokiem życia. PCA jest jedną z tych rzadkich form demencji o wczesnym początku, jednak jej dokładna częstość występowania pozostaje nieznana¹¹.

Różnice płciowe

Niektóre badania sugerują, że PCA występuje częściej u kobiet, co odzwierciedla zwiększoną częstość występowania choroby Alzheimera u kobiet¹¹². Inne badania nie wykazały jednak istotnych różnic między płciami²¹³.

Etiologia i patofizjologia PCA w kontekście epidemiologii

Dokładna przyczyna atrofii korowej tylnej pozostaje nieznana¹⁴¹⁵. Co istotne z epidemiologicznego punktu widzenia, choroba Alzheimera jest najczęstszą przyczyną PCA, odpowiadając za około 80-94% przypadków¹⁶¹⁷. Inne, rzadziej występujące patologie leżące u podłoża PCA obejmują:

Chorobę z ciałami Lewy’ego (około 10% przypadków)¹⁸
Zwyrodnienie korowo-podstawne (CBD) (około 22% przypadków)¹⁸
Choroby prionowe⁸
Gliozę podkorową¹⁶

Genetyczne podstawy PCA pozostają nieuchwytne. W przeciwieństwie do niektórych form choroby Alzheimera o wczesnym początku, PCA zwykle nie wykazuje autosomalnego dominującego wzorca dziedziczenia i generalnie nie występuje rodzinna historia demencji¹⁹. Nie zaobserwowano również oczywistych mutacji genetycznych związanych z tym schorzeniem¹⁴.

Nadzór i monitoring epidemiologiczny

Problemy diagnostyczne wpływające na dane epidemiologiczne

Monitorowanie epidemiologiczne PCA jest utrudnione przez kilka czynników:²⁰

Nietypowa prezentacja objawów: osoby z PCA często najpierw doświadczają problemów ze wzrokiem, a nie z pamięcią³
Błędna diagnoza: pacjenci często najpierw konsultują się z okulistami, którzy mogą nie wykryć schorzenia przy standardowych badaniach¹⁰
Brak biomarkerów specyficznych dla PCA, co utrudnia jednoznaczną diagnostykę²¹
Ograniczona liczba badań epidemiologicznych poświęconych PCA²²

Obserwuje się znaczne opóźnienia w diagnozie PCA, co dodatkowo komplikuje gromadzenie dokładnych danych epidemiologicznych²³²⁴.

Inicjatywy badawcze i monitorowanie

Aby poprawić diagnostykę i monitoring epidemiologiczny PCA, podejmowane są różne inicjatywy:

W 2012 roku odbyła się pierwsza międzynarodowa konferencja poświęcona PCA w Vancouver w Kanadzie, mająca na celu ustanowienie standardowej definicji i kryteriów diagnostycznych⁸
Zespół z University College London prowadzi długoterminowe badanie PCA od 2005 roku w celu poprawy charakterystyki i diagnostyki tego schorzenia²³
Uniwersytet Kalifornijski w San Francisco (UCSF) przeprowadził pierwsze zakrojone na szeroką skalę badanie PCA, potwierdzając, że w 94% przypadków PCA wiąże się z patologią choroby Alzheimera¹⁷

Znaczenie poprawy diagnostyki dla danych epidemiologicznych

Wczesna identyfikacja PCA może mieć istotne implikacje dla leczenia choroby Alzheimera i innych demencji²⁵. Lepsze zrozumienie PCA jest „kluczowe dla postępu zarówno w opiece nad pacjentem, jak i zrozumienia procesów leżących u podstaw choroby Alzheimera”²⁵. Wraz z pojawieniem się terapii modyfikujących chorobę, które są specyficzne dla poszczególnych etiologii, ustalenie obecności czynników etiologicznych będzie ważne dla postępowania i poradnictwa²⁶.

Rokowanie i przebieg naturalny

Atrofia korowa tylna jest postępującym schorzeniem, a rokowanie jest niekorzystne⁵. Oczekiwana długość życia po diagnozie PCA jest podobna (8-12 lat) do osób dotkniętych chorobą Alzheimera⁵.

Historia naturalna PCA wskazuje na postęp z czasem, a trajektoria ta wydaje się odzwierciedlać inne warianty choroby Alzheimera o wczesnym początku²⁷. Wraz z rozprzestrzenianiem się uszkodzeń w mózgu i postępem choroby, u pacjentów rozwijają się bardziej typowe objawy choroby Alzheimera, takie jak utrata pamięci i dezorientacja⁶. Większość pacjentów z czasem staje się funkcjonalnie niewidoma, co prowadzi również do wysokiego ryzyka upadków²⁶.

Wsparcie i opieka w kontekście epidemiologii

Biorąc pod uwagę rzadkość PCA i jego specyficzne potrzeby w zakresie opieki, kwestie wsparcia mają znaczenie epidemiologiczne:

Osoby z PCA są narażone na niewłaściwe wsparcie w tradycyjnych grupach wsparcia dla osób z demencją²⁴
Grupy wsparcia specyficzne dla rzadkich demencji są istotną częścią zarządzania chorobą, ponieważ przynoszą znaczne korzyści w zakresie poprawy jakości życia osób z demencją i ich opiekunów²⁸
Brak dostępnych informacji jest zgłaszany jako znacząca przyczyna stresu dla osób żyjących z PCA i ich opiekunów²⁸

Badania wskazują na wymierne korzyści dla opiekunów osób żyjących z PCA płynące z grup wsparcia zarówno online, jak i stacjonarnych²⁹.

Przyszłe kierunki badań epidemiologicznych

W świetle ograniczonych danych epidemiologicznych dotyczących PCA, przyszłe badania powinny koncentrować się na:

Opracowaniu standardowych kryteriów diagnostycznych w celu poprawy identyfikacji przypadków i gromadzenia danych⁸
Przeprowadzeniu obszerniejszych badań epidemiologicznych w celu określenia dokładnej częstości występowania i chorobowości²²
Zbadaniu potencjalnych czynników ryzyka specyficznych dla PCA²³
Wzmocnieniu skierowanych na histopatologię protokołów diagnostycznych dla chorób neurodegeneracyjnych z wykorzystaniem biomarkerów specyficznych dla choroby²¹
Badaniu potencjalnych wskaźników ocznych do odróżnienia PCA od typowej choroby Alzheimera za pomocą technik takich jak angiografia optycznej koherentnej tomografii (OCTA)³⁰

Lepsze zrozumienie epidemiologii PCA pomoże w opracowaniu skutecznych interwencji środowiskowych lub psychospołecznych, które są szczególnie istotne wobec braku terapii modyfikujących chorobę w przypadku choroby Alzheimera i innych form demencji³¹.

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Materiały źródłowe

#1 Posterior Cortical Atrophy – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/sites/books/NBK580553/
Posterior cortical atrophy typically presents early ( 65 years). An international study of 302 patients with posterior cortical atrophy showed a peak onset between 50 and 65 years of age with diminishing incidence with age. The mean age of onset was determined to be 58.9 years. A precise estimation of the incidence and prevalence of posterior cortical atrophy is difficult given the changing definitions and the relative rarity of the disorder. […] The proportion of patients diagnosed with posterior cortical atrophy depends on the clinical context. It varies from 5% in specialty cognitive clinics to 13 % when looking at early-onset Alzheimer disease data. Some studies have reported PCA to be more common in women, reflecting the increased prevalence of AD in women. While other studies have reported no sex differences.
#2 Posterior cortical atrophy | Radiology Reference Article | Radiopaedia.org
https://radiopaedia.org/articles/posterior-cortical-atrophy?embed_domain=hackmd.io%25252F%252540yipuafecsl2jsu8smr5njq%25252Fbnjhjgjghjghjghradiopaedia-icon-144.pngfavicon.ico&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.
#3 What is posterior cortical atrophy (PCA)? – Dementia UK
https://www.dementiauk.org/information-and-support/types-of-dementia/posterior-cortical-atrophy-pca/
Posterior cortical atrophy (PCA), also known as Bensonâs Syndrome, is the degeneration of the cells at the back or posterior of the brain. PCA is a rare form of dementia that people often develop between the ages of 50 and 65. […] People with PCA will often first experience problems with their sight, rather than memory. This is because their brain is having trouble interpreting the information sent to it by the eyes.
#4 Posterior Cortical Atrophy (PCA) | Symptoms & Treatments | alz.org
https://www.alz.org/alzheimers-dementia/what-is-dementia/types-of-dementia/posterior-cortical-atrophy
Posterior cortical atrophy (PCA) refers to gradual and progressive degeneration of the outer layer of the brain (the cortex) in the part of the brain located in the back of the head (posterior). […] There is no standard definition of posterior cortical atrophy and no established diagnostic criteria, and so it is not possible to know how many people have the condition. Some studies have found that about 5 percent of people diagnosed with Alzheimer’s disease have posterior cortical atrophy. However, because posterior cortical atrophy often goes unrecognized, the true percentage may be as high as 15 percent. […] Misdiagnosis of posterior cortical atrophy is common, owing to its relative rarity and unusual and variable presentation. Additionally, people with posterior cortical atrophy frequently first seek the opinion of an ophthalmologist who may indicate a normal eye examination by their usual tests.
#5 Orphanet: Posterior cortical atrophy
https://www.orpha.net/en/disease/detail/54247
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. […] Prognosis is poor as PCA is progressive disorder. Life expectancy after PCA diagnosis is thought to be similar (8-12 years) to individuals affected with Alzheimer’s disease.
#6 Posterior cortical atrophy | Alzheimer’s Society
https://www.alzheimers.org.uk/about-dementia/types-dementia/Posterior-cortical-atrophy
Posterior cortical atrophy (PCA), also known as Benson’s syndrome, is a rare degenerative condition in which damage occurs at the back (posterior region) of the brain. In the vast majority of people, the cause of PCA is Alzheimer’s disease. […] The first symptoms of PCA tend to occur when people are in their mid-50s or early 60s. […] However, the first signs are often subtle and so it may be some time before a formal diagnosis is made. […] As damage in the brain spreads and the disease progresses, people develop the more typical symptoms of Alzheimer’s disease, such as memory loss and confusion. […] There are no specific medications for the treatment of PCA but some people find medications for Alzheimer’s disease helpful. […] Chris shares how he and his wife, Susan, draw on their own experience of posterior cortical atrophy to improve future care and support. […] Read about Sir Terry Pratchett’s dementia diagnosis of posterior cortical atrophy (PCA), a rare type of Alzheimer’s disease. […] Edward Bushnell in Oxfordshire, who is 62 and has posterior cortical atrophy, says he has no alternative but to be positive.
#7 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 usually affects people at an earlier age than typical cases of Alzheimer’s disease, with initial symptoms often experienced in people in their mid-50s or early 60s. […] 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.
#8 Posterior cortical atrophy – Wikipedia
https://en.wikipedia.org/wiki/Posterior_cortical_atrophy
PCA may also be correlated with Lewy body disease, CreutzfeldtJakob disease, Blint’s syndrome, and Gerstmann syndrome. […] There is no standard definition of PCA and no established diagnostic criteria, so it is not possible to know how many people have the condition. Some studies have found that about 5 percent of people diagnosed with Alzheimer’s disease have PCA. However, because PCA often goes unrecognized, the true percentage may be as high as 15 percent. Researchers and physicians are working to establish a standard definition and diagnostic criteria for PCA. […] In 2012, the first international conference on PCA was held in Vancouver, Canada. Continued research and testing will hopefully result in accepted and standardized criteria for diagnosis. […] Due to the lack of biomarkers for PCA, neuropsychological examinations are advised. Neuroimaging can also assist in the diagnosis of PCA. […] The variation and lack of organized clinical testing has led to continued difficulties and delays in the diagnosis of PCA.
#9 Posterior Cortical Atrophy | Memory and Aging Center
https://memory.ucsf.edu/dementia/posterior-cortical-atrophy
Posterior cortical atrophy (PCA) is thought to affect less than 5% of people with Alzheimers disease, although epidemiological studies are lacking and PCA has been under-recognized in the past. […] 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.
#10 Posterior Cortical Atrophy (PCA) | Symptoms & Treatments | alz.org
https://www.alz.org/alzheimers-dementia/what-is-dementia/types-of-dementia/posterior-cortical-atrophy
Posterior cortical atrophy (PCA) refers to gradual and progressive degeneration of the outer layer of the brain (the cortex) in the part of the brain located in the back of the head (posterior). […] There is no standard definition of posterior cortical atrophy and no established diagnostic criteria, and so it is not possible to know how many people have the condition. Some studies have found that about 5 percent of people diagnosed with Alzheimer’s disease have posterior cortical atrophy. However, because posterior cortical atrophy often goes unrecognized, the true percentage may be as high as 15 percent. […] Misdiagnosis of posterior cortical atrophy is common, owing to its relative rarity and unusual and variable presentation. Additionally, people with posterior cortical atrophy frequently first seek the opinion of an ophthalmologist who may indicate a normal eye examination by their usual tests.
#11 âBecause my brain isnât as active as it should be, my eyes donât always seeâ: a qualitative exploration of the stress process for those living with posterior cortical atrophy | BMJ Open
https://bmjopen.bmj.com/content/8/2/e018663
There are an estimated 850000 people currently living with dementia in the UK, and it is estimated that 5% of these (approximately 42 500) are cases of young-onset dementias, with symptoms beginning before the age of 65 years. Posterior cortical atrophy (PCA), originally called Bensons disease, is a rare form of dementia that is typically early in onset with symptoms usually beginning between the ages of 50 years and 65 years. The prevalence is unknown. PCA is characterised by initial neurodegeneration towards the back of the brain, specifically in the parietal, occipital and occipitotemporal regions. Correspondingly, the initial symptoms predominantly relate to cortical visual impairment, particularly deficits in visuospatial and visuoperceptual processing. While current clinical criteria cite visual processing impairments with proportionally less impaired memory as core diagnostic features of PCA, patients may in fact exhibit memory impairments at initial presentation. When compared with other dementias, PCA is relatively under-researched. The majority of research into PCA is concentrated around establishing the neuropsychological, cognitive and imaging profile(s) of those with the diagnosis. Anecdotal and laboratory-based evidence suggests ways in which PCA might impact on peoples daily lives, including problems with reading, driving and localising objects in space, but there is a paucity of research focusing on the everyday impact of living with the diagnosis for individuals and families.
#12 Posterior Cortical Atrophy (PCA) – PsychDB
https://www.psychdb.com/geri/dementia/posterior-cortical-atrophy-pca
The individuals with PCA are more commonly women.
#13 Visual Variant of Alzheimerâs Disease – EyeWiki
https://eyewiki.org/Visual_Variant_of_Alzheimer%E2%80%99s_Disease
The visual variant of Alzheimers disease (VVAD), also known as Posterior Cortical Atrophy (PCA) or Bensons syndrome, is a rare neurodegenerative disease. […] Poor general awareness coupled with the lack of formal diagnostic criteria have led to underdiagnosis of VVAD in the past, and a paucity of epidemiological studies mean that prevalence and incidence remain uncertain. In a study of patients at a neurological dementia clinic, 5% (24 of 523) presented with predominant visual symptoms consistent with PCA. […] VVAD tends to affect a younger demographic than AD, with age of onset typically 50-65 years. Some studies have reported a slight female predominance though others have found no gender difference.
#14 Posterior Cortical Atrophy (PCA) | Symptoms & Treatments | alz.org
https://www.alz.org/alzheimers-dementia/what-is-dementia/types-of-dementia/posterior-cortical-atrophy
Similar to Alzheimer’s disease, the causes of posterior cortical atrophy are unknown, and no obvious genetic mutations have been shown to be linked to the condition. It is also not known if the risk factors for Alzheimer’s disease are also risk factors for posterior cortical atrophy. […] There are no treatments for posterior cortical atrophy known to slow or halt its progression.
#15 A Complete Guide to Post Cortical Atrophy: What You Need to Know
https://www.lidementia.org/alzheimers-disease/types-of-dementia/post-cortical-atrophy/
Posterior Cortical Atrophy (PCA) is a rare form of dementia that often impacts visual processing. […] The majority of Alzheimer’s disease cases occur in those who are 65 and older; while PCA regularly occurs in those between 50 and 65. […] The exact cause of PCA remains unknown. […] Trouble identifying a clear cause of post cortical atrophy makes it difficult to diagnose and treat. […] Unfortunately, there is no particular treatment or cure for post cortical atrophy.
#16 SciELO Brazil – A patient with posterior cortical atrophy due to Alzheimerâs disease A patient with posterior cortical atrophy due to Alzheimerâs disease
https://www.scielo.br/j/dn/a/3GXBpkn4p4fz5znwXsPH5pM/
The MRI revealed bilateral occipito-parietal atrophy without mesial-temporal atrophy. These findings are found in PCA and help to differentiate from typical AD. Several studies have shown that the pattern of cerebral atrophy is asymmetrical in PCA, with a predominance of right hemisphere involvement. This was not observed in our case. Histopathologic findings in PCA are often consistent with the pathology of AD, and these agreed with our findings. AD is the most frequent cause of PCA, accounting for about 80% of cases. Although very rare, some cases with clinical and radiological presentations of PCA have been attributed to other conditions such as dementia with Lewy bodies, corticobasal degeneration, prion disease, and subcortical gliosis.
#17 Azthena logo with the word Azthena
https://www.news-medical.net/news/20240122/Posterior-cortical-atrophy-predicts-Alzheimers-study-finds.aspx
A team of international researchers, led by UC San Francisco, has completed the first large-scale study of posterior cortical atrophy, a baffling constellation of visuospatial symptoms that present as the first symptoms of Alzheimer’s disease. These symptoms occur in up to 10% of cases of Alzheimer’s disease. […] Posterior cortical atrophy (PCA) overwhelmingly predicts Alzheimer’s, the researchers found. Some 94% of the PCA patients had Alzheimer’s pathology and the remaining 6% had conditions like Lewy body disease and frontotemporal lobar degeneration. In contrast, other studies show that 70% of patients with memory loss have Alzheimer’s pathology. […] The average age of symptom onset of PCA is 59, several years younger than that of typical Alzheimer’s. This is another reason why patients with PCA are less likely to be diagnosed, Chapleau added.
#18 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
Posterior cortical atrophy is a clinical syndrome that is characterized by the progressive loss of visuospatial integration and is associated with neurodegenerative conditions. […] Age at onset is typically between 50 and 65 years, and patients usually first present to ophthalmologists with difficulties in fine vision tasks distinguishing lines and reading texts, judging distances, identifying static objects within the visual field, or problems with stairs and escalators. […] The pathologic substrates of PCA include AD (62%) in the majority of cases, dementia with Lewy bodies (10%), corticobasal degeneration (CBD) (22%), prion disease, and subcortical gliosis. […] PCA might be associated with AD, CBD, or Lewy body disease. […] 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.
#19 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
Posterior cortical atrophy is a dementia syndrome with symptoms of cortical visual dysfunction, associated with amyloid plaques and neurofibrillary tangles predominantly affecting visual association cortex. […] Recent epidemiological studies indicate that less than 5% of patients with AD are also affected with PCA. […] The genetic basis of PCA remains elusive, usually not showing autosomal dominant inheritance patterns and generally there is no family history of dementia. […] 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. […] Despite the predominance of visual dysfunction throughout the 2-year observation period, in the follow-up testing episodic memory decline was evident.
#20 Potential ocular indicators to distinguish posterior cortical atrophy and typical Alzheimerâs disease: a cross-section study using optical coherence tomography angiography | Alzheimer’s Research & Therapy | Full Text
https://alzres.biomedcentral.com/articles/10.1186/s13195-024-01431-w
Posterior cortical atrophy (PCA) is a form of dementia that frequently displays significant visual dysfunction and relatively preserved cognitive and executive functions, thus hindering early diagnosis and treatment. […] Currently, the auxiliary examination techniques for PCA include magnetic resonance imaging, single photon emission computed tomography, and positron emission computed tomography, as well as cerebrospinal fluid, which may be inaccurate, invasive, or expensive. […] The above-mentioned condition combined with the confusing nature of the non-amnesic symptoms and the relatively low prevalence (probably underestimated owing to the lack of awareness of PCA) make it more difficult for an early diagnosis and intervention in PCA. […] In clinical practice, it is still difficult to distinguish PCA from classic AD purely from clinical manifestations and neuropsychological assessment, especially for patients in the middle or advanced stages of the both diseases.
#21 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
The lack of data from CSF analyses due to the patient’s refusal to submit to lumbar puncture did not allow the collection of further information about the underlying pathology. […] These diagnostic criteria are based on clinical signs and symptoms that are not informative about the actual underlying degenerative condition, and show poor clinic-pathological correlations. […] The empowerment of histopathology-targeted diagnostic protocols for neurodegenerative diseases is highly desirable and should be achieved using disease-specific biomarkers.
#22 Posterior Cortical Atrophy | Memory and Aging Center
https://memory.ucsf.edu/tl/node/7601
Posterior cortical atrophy (PCA) is a rare, visual variant of Alzheimers disease. PCA is thought to affect less than 5% of people with Alzheimers disease, although epidemiological studies are lacking and PCA has been under-recognized in the past. […] 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.
#23 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. […] These diagnosis issues are because PCA is so rare estimates suggest that only 5% of people with Alzheimers have PCA, which itself is just one of many types of dementia. […] A team at University College London has been running a long-term study of PCA since 2005 to improve characterisation and diagnosis of PCA. […] Currently, we do not know why people develop PCA or what risk factors there are for it.
#24 Meeting other people living with posterior cortical atrophy – The Dementia Society
https://dementia-wellbeing.org/personhood/meeting-other-people-living-with-posterior-cortical-atrophy/
Even The Man Who Mistook His Wife for a Hat, from Oliver Sacks famous book, has since been speculated to have suffered from posterior cortical atrophy (PCA). […] Interestingly, she reports this delay in diagnosis as rather typical for many people finding a diagnosis of PCA. […] The symptoms of PCA can vary from one person to the next and can change as the condition progresses. […] The most common symptoms are consistent with damage to the part of the brain at the back of the head, an area responsible for processing visual information. […] Age of onset is typically 50-65, demonstrating why dementia is not simply about ageing. […] People with PCA are at risk of being let down by traditional dementia support groups. […] PCA is not new to the research community. […] The English dementia strategy is mindful of the needs to develop communities supportive of the needs of people living with PCA, of the need for high quality research research into PCA, and to think how people living with PCA can be best supported professionally and personally. […] Its not only people with posterior cortical atrophy who experience problems with vision, however. This is very important to be aware of.
#25 Azthena logo with the word Azthena
https://www.news-medical.net/news/20240122/Posterior-cortical-atrophy-predicts-Alzheimers-study-finds.aspx
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. […] 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.
#26 Posterior Cortical Atrophy in Alzheimer Disease
https://decisionpoint.medscape.com/neurology/viewarticle/985528
Most patients do become functionally blind over time, also leading to a high fall risk. […] At this point in time, posterior cortical atrophy is typically a young-onset variant but still mainly has a sporadic presentation without a strong association with autosomal dominant genes associated with younger-onset Alzheimer’s disease. […] Specific clinical phenotypes commonly associated with Alzheimer’s disease pathology (common Alzheimer’s disease phenotypes) include: Posterior cortical atrophy variant. […] Biomarker status for common Alzheimer’s disease phenotypes (amnestic variant, logopenic variant of primary progressive aphasia, and posterior cortical atrophy): If amyloid-positive, tau-positive, likelihood of Alzheimer’s disease as a primary diagnosis is highly probable established.
#27
https://journals.lww.com/alzheimerjournal/fulltext/2017/10000/the_nature_and_natural_history_of_posterior.4.aspx
A prospective longitudinal evaluation of 12 patients over a 16-year interval using clinical neurological and imaging data to determine whether posterior cortical atrophy syndrome (PCA) related to early-onset Alzheimer disease (AD) and to examine its natural history. […] PCA is a syndrome that is most likely a variant of early-onset AD and our correlative clinical, structural, functional, and amyloid imaging data, along with neuropathologic studies in 2 patients, support this concept. […] The natural history of PCA shows progression with time and this trajectory seems to reflect that of other variants of early-onset AD.
#28 Peer Support for Caregivers of People Living with Posterior Cortical Atrophy in Melbourne, Australia: A Feasibility Study
https://www.mdpi.com/1660-4601/21/4/513
Support groups specifically are an important part of disease management, as they are of significant benefit for increasing the quality of life in individuals with dementia and their caregivers. […] Peer support groups are vital to provide pathways to connect with others with the condition and offer a positive impact by increasing knowledge and understanding of the condition, and by fostering social connection with peers to reduce feelings of isolation. […] PCA is a rare type of dementia and is not well known even among the dementia community. This lack of available information has also been reported as a significant cause of stress for those living with PCA and their caregivers. […] Caregiver support groups that are YOD-specific can be beneficial in providing education and facilitating coping, which may reduce psychosocial symptoms such as anxiety and burden.
#29 Peer Support for Caregivers of People Living with Posterior Cortical Atrophy in Melbourne, Australia: A Feasibility Study
https://www.mdpi.com/1660-4601/21/4/513
PCA is a debilitating illness for young people, often leading them to require significant support from caregivers. Despite this, there is minimal literature reporting on support groups for PCA, particularly in Australia. […] Building on the learnings of the original 2015/2016 groupâs evaluation, we report on a PCA support group for caregivers whose family members were in the early stages of the diagnosis. The aims of the group were to improve knowledge of PCA, provide strategies for managing PCA, and importantly, provide a support network for caregivers looking after individuals with rare dementia. […] The results of this feasibility study suggest there are discernible benefits for caregivers of people living with PCA. We recommend that online and in-person support groups continue to be developed and delivered across Australia in rural and metropolitan settings.
#30 Potential ocular indicators to distinguish posterior cortical atrophy and typical Alzheimerâs disease: a cross-section study using optical coherence tomography angiography | Alzheimer’s Research & Therapy | Full Text
https://alzres.biomedcentral.com/articles/10.1186/s13195-024-01431-w
Therefore, we further investigated and compared the patterns of changes in fundus structure and perfusion in PCA and typical AD patients by the SS-OCT and OCTA techniques to find possible indicators that can screen out those patients with PCA or AD at an early point. […] The results from earlier studies of optic fundus structure and blood flow in PCA patients were insufficient for the limited number of relative researches, and those in AD patients were not substantiated. […] The present study investigated alternations of retinal structural and vascular indicators in PCA patients and validated these alternations in AD patients.
#31 âBecause my brain isnât as active as it should be, my eyes donât always seeâ: a qualitative exploration of the stress process for those living with posterior cortical atrophy | BMJ Open
https://bmjopen.bmj.com/content/8/2/e018663
In the absence of disease-modifying therapies for AD and other forms of dementia, environmental and psychosocial interventions to improve the quality of life and well-being of those living with it hold particular significance. Better understanding the needs of those with different rare and/or young-onset dementias will be an important step in developing effective environmental or psychosocial interventions. […] The current study sought to maximise on the relative abilities of those with PCA to reflect on and communicate their experiences. Using the Stress Process Model as a conceptual framework, we present findings from a qualitative exploration of the stresses associated with mild to moderate stage PCA and responses to these over time. The Stress Process Model outlines primary stressors that result directly from the disease itself, secondary strains that may follow and both internal and external factors that mediate both of these in shaping outcomes.