Postępujące porażenie nadrdzeniowe – Diagnostyka i diagnoza

Postępujące porażenie nadrdzeniowe
Diagnostyka i diagnoza

Postępujące porażenie nadrdzeniowe (PSP) to rzadkie, neurodegeneracyjne schorzenie o trudnej diagnostyce, szczególnie we wczesnych stadiach, ze względu na podobieństwo objawów do choroby Parkinsona, Alzheimera czy udaru mózgu. Średni czas od pojawienia się pierwszych symptomów do diagnozy wynosi 3-4 lata, co często skutkuje błędnym rozpoznaniem u około 60% pacjentów. Diagnoza PSP opiera się głównie na badaniu klinicznym, z wykorzystaniem kryteriów NINDS-SPSP (1996) oraz nowszych kryteriów MDS-PSP (2017), które uwzględniają dysfunkcję okoruchową, niestabilność postawy, akinezję i deficyty poznawcze. Charakterystyczne cechy to pionowe porażenie spojrzenia, niestabilność postawy z upadkami w pierwszym roku choroby oraz specyficzne zmiany w mowie i postawie. Różnicowanie z chorobą Parkinsona opiera się m.in. na braku drżenia spoczynkowego, słabej odpowiedzi na lewodopę oraz wczesnych zaburzeniach mowy i połykania.

Diagnostyka postępującego porażenia nadrdzeniowego

Wyzwania diagnostyczne w PSP
Kryteria diagnostyczne PSP

Badanie kliniczne w diagnostyce PSP

Wywiad i badanie fizykalne
Różnicowanie z innymi chorobami

Badania obrazowe w diagnostyce PSP

Rezonans magnetyczny (MRI)
Inne badania obrazowe

Inne testy diagnostyczne

Badania biochemiczne i płynu mózgowo-rdzeniowego
Badania neurofizjologiczne i neuropsychologiczne
Test lewodopy

Znaczenie wczesnej diagnozy PSP
Nowe kierunki w diagnostyce PSP
Wielodyscyplinarne podejście do diagnostyki PSP

Kolejne rozdziały

Diagnostyka postępującego porażenia nadrdzeniowego

Postępujące porażenie nadrdzeniowe (PSP) to rzadkie neurodegeneracyjne schorzenie, które często jest trudne do zdiagnozowania, szczególnie we wczesnych stadiach choroby. Diagnostyka PSP stanowi wyzwanie, ponieważ objawy mogą przypominać inne schorzenia neurologiczne, takie jak choroba Parkinsona (PD), choroba Alzheimera czy udar mózgu. Wczesna i prawidłowa diagnoza jest kluczowa dla zapewnienia odpowiedniej opieki i leczenia pacjentom z PSP¹².

Wyzwania diagnostyczne w PSP

Jednym z głównych wyzwań w diagnostyce PSP jest fakt, że obecnie nie istnieje pojedynczy test diagnostyczny, który mógłby jednoznacznie potwierdzić obecność tego schorzenia. Od pojawienia się pierwszych objawów do postawienia diagnozy PSP upływa średnio około 3-4 lat, co oznacza, że pacjenci są diagnozowani już w połowie przebiegu choroby¹². Opóźnienie diagnozy wynika z kilku czynników, w tym z opóźnionego poszukiwania pomocy lekarskiej, nierozpoznania znaczenia wczesnych objawów oraz błędnego diagnozowania PSP jako depresji lub choroby Parkinsona¹.

Wiele osób z PSP jest początkowo błędnie diagnozowanych jako cierpiący na chorobę Parkinsona, chorobę Alzheimera lub chorobę naczyniową (np. udar mózgu). Według niektórych badań, około 60% pacjentów otrzymuje początkowo nieprawidłową diagnozę¹².

Kryteria diagnostyczne PSP

Diagnoza PSP jest przede wszystkim kliniczna i opiera się na dokładnym badaniu fizykalnym oraz ocenie objawów pacjenta. W 1996 roku National Institute of Neurological Disorders and Stroke (NINDS) wraz z Society for PSP (SPSP) opracowały kryteria diagnostyczne PSP, które są nadal szeroko stosowane¹.

Według kryteriów NINDS-SPSP, dla prawdopodobnego PSP wymagane są:

Pionowe nadrdzeniowe porażenie spojrzenia (lub spowolnienie pionowych sakkad)
Wyraźna niestabilność postawy z upadkami w ciągu pierwszego roku trwania choroby
Początkowo stopniowo postępujące schorzenie u osoby po 40. roku życia¹²

W 2017 roku International Parkinson and Movement Disorder Society (MDS) zaproponowało nowe kryteria diagnostyczne dla PSP (kryteria MDS-PSP), które miały na celu poprawę wczesnego wykrywania zarówno klasycznej postaci PSP (zespół Richardsona), jak i wariantów PSP¹².

Kryteria MDS-PSP opierają się na:

Obowiązkowych kryteriach włączenia i wykluczenia
Zaangażowaniu czterech głównych domen funkcjonalnych: dysfunkcji okoruchowej, niestabilności postawy, akinezji i dysfunkcji poznawczej
Cechach wspierających diagnozę¹²

Według nowych kryteriów, wyróżnia się cztery poziomy pewności diagnostycznej:

Pewne PSP – diagnoza możliwa tylko na podstawie badania neuropatologicznego, zazwyczaj pośmiertnie
Prawdopodobne PSP – diagnoza oparta na kombinacji cech klinicznych o wysokiej swoistości
Możliwe PSP – diagnoza oparta na cechach klinicznych zwiększających czułość, kosztem zmniejszonej swoistości
Sugestywne PSP – wczesne, subtelne oznaki PSP o umiarkowanej wartości predykcyjnej¹²

Badanie kliniczne w diagnostyce PSP

Podstawą diagnozy PSP jest dokładne badanie kliniczne przeprowadzone przez neurologa, najlepiej specjalizującego się w zaburzeniach ruchu. Badanie to obejmuje szczegółowy wywiad, badanie fizykalne oraz ocenę neurologiczną¹.

Wywiad i badanie fizykalne

Podczas wywiadu lekarz zbiera informacje na temat początku i progresji objawów, historii medycznej pacjenta oraz wpływu objawów na codzienne funkcjonowanie. Szczególnie istotne jest określenie, kiedy pojawiły się pierwsze objawy i jak one ewoluowały w czasie¹².

Kluczowe elementy badania fizykalnego w diagnozie PSP obejmują:

Ocenę chodu i równowagi – problemy z równowagą i zmiany w chodzie są najwyraźniejszymi objawami, które mogą wskazywać na PSP, szczególnie w połączeniu z niezdolnością do kontrolowania lub poruszania oczami¹
Badanie ruchów gałek ocznych – charakterystycznym objawem PSP jest trudność w pionowych ruchach oczu, zwłaszcza w kierunku dolnym, co często potwierdza diagnozę¹
Ocenę mowy – typowa mowa w PSP różni się od cichej, hipofonicznej mowy w chorobie Parkinsona i jest bardziej chaotyczna dysartrofonia: zniekształcona, wolna i wymagająca wysiłku, czasami niewłaściwie głośna, a następnie niewyraźna¹
Badanie postawy – pacjenci z wariantem Richardsona PSP zwykle mają wyprostowaną postawę lub wygiętą do tyłu, w przeciwieństwie do pochylonej do przodu postawy w innych zaburzeniach parkinsonowskich¹

Różnicowanie z innymi chorobami

Ważnym elementem diagnostyki PSP jest różnicowanie z innymi schorzeniami, które mogą prezentować podobne objawy. Przede wszystkim należy odróżnić PSP od choroby Parkinsona, z którą często jest mylona¹.

Cechy odróżniające PSP od choroby Parkinsona:

Brak drżenia spoczynkowego (charakterystycznego dla choroby Parkinsona)
Trudności w ogniskowaniu wzroku, szczególnie w patrzeniu w dół (porażenie spojrzenia w dół)
Bardzo niewielka lub brak odpowiedzi na leki typowo stosowane w chorobie Parkinsona (np. lewodopa)
Wcześniejsze i bardziej nasilone zaburzenia mowy i połykania niż w chorobie Parkinsona
Niestabilność postawy i upadki pojawiające się wcześnie w przebiegu choroby¹²

PSP należy również różnicować z innymi atypowymi zespołami parkinsonowskimi, takimi jak zanik wieloukładowy (MSA) i zwyrodnienie korowo-podstawne (CBD), a także z otępieniem czołowo-skroniowym¹.

Badania obrazowe w diagnostyce PSP

Chociaż diagnoza PSP jest przede wszystkim kliniczna, badania obrazowe odgrywają ważną rolę w diagnostyce, głównie w celu wykluczenia innych schorzeń oraz wsparcia rozpoznania klinicznego¹.

Rezonans magnetyczny (MRI)

MRI mózgu jest najczęściej stosowanym badaniem obrazowym w diagnostyce PSP. Może ono wykazać charakterystyczne zmiany, które wspierają diagnozę PSP¹.

Typowe zmiany w MRI u pacjentów z PSP obejmują:

Zanik śródmózgowia, co jest użytecznym biomarkerem obrazowym w klasycznych i pniowych wariantach PSP
Poszerzenie trzeciej komory i wodociągu mózgu
Scieńczenie płytki czworaczej
Na przekrojach strzałkowych można zaobserwować tzw. „objaw kolibra” (hummingbird sign) lub „objaw pingwina” (penguin sign), który charakteryzuje się zanikiem części grzbietowej śródmózgowia¹²

Wskaźnik parkinsonizmu MR (MRPI) to narzędzie opracowane do różnicowania PSP od idiopatycznej choroby Parkinsona i MSA. Badania wykazały, że MRPI ma 100% czułość i ponad 99% swoistość w różnicowaniu PSP od prawdopodobnej lub możliwej choroby Parkinsona¹².

Inne badania obrazowe

Oprócz MRI, w diagnostyce PSP mogą być stosowane inne techniki obrazowania:

Pozytonowa tomografia emisyjna (PET) – może wykazać zmniejszony metabolizm w płacie czołowym i/lub śródmózgowiu, co wspiera diagnozę PSP. PET z użyciem znaczników tau może wykazać nieprawidłowe złogi białka tau¹²
Tomografia emisyjna pojedynczego fotonu (SPECT) z obrazowaniem transportera dopaminy (DaTSCAN) – pokazuje utratę normalnego kształtu półksiężycowego lub przecinkowego wychwytu znacznika w prążkowiu. Zamiast tego widoczny jest owalny lub punktowy wychwyt w głowie jądra ogoniastego bez wychwytu znacznika w skorupie¹²

Należy jednak pamiętać, że badania obrazowe, choć pomocne, nie są same w sobie diagnostyczne dla PSP. Jak podkreślono: „Obrazowanie NIGDY nie zastępuje bardzo szczegółowego badania fizykalnego i wywiadu”¹.

Inne testy diagnostyczne

W procesie diagnostycznym PSP stosuje się również inne badania, które mogą pomóc w potwierdzeniu diagnozy lub wykluczeniu innych schorzeń¹.

Badania biochemiczne i płynu mózgowo-rdzeniowego

Obecnie nie ma specyficznych biomarkerów w płynie mózgowo-rdzeniowym (PMR) lub krwi, które mogłyby jednoznacznie potwierdzić diagnozę PSP. Jednak trwają intensywne badania nad znalezieniem takich markerów¹.

Obiecujące wyniki przyniosły niedawne badania nad biomarkerami białkowymi w płynie mózgowo-rdzeniowym. Naukowcy z UC San Francisco zidentyfikowali wzorzec w płynie mózgowo-rdzeniowym pacjentów z PSP, używając nowej technologii wysokoprzepustowej, która może mierzyć tysiące białek w małej kropli płynu. Badacze mają nadzieję, że te biomarkery białkowe doprowadzą do opracowania testu diagnostycznego i ukierunkowanych terapii¹².

Badania neurofizjologiczne i neuropsychologiczne

W diagnostyce PSP pomocne mogą być również:

Testy neuropsychologiczne – oceniające funkcje poznawcze, które mogą być zaburzone w PSP. Większość pacjentów z PSP wykazuje charakterystyczny wzorzec deficytów poznawczych, w tym słabą koncentrację, krótki czas uwagi, problemy z językiem mówionym i przetwarzaniem informacji wizualnych¹
Badania ruchów gałek ocznych – mogą rejestrować ruchy oczu i potwierdzić diagnozę. Ocena kwadratowych szarpnięć (square-wave jerks) i zmniejszonych pionowych sakkad jest szczególnie przydatna w diagnozowaniu PSP¹²
Badania snu – u pacjentów z PSP mogą wykazać następujące nieprawidłowości: zmniejszenie całkowitego czasu snu, zwiększoną liczbę wybudzeń, postępującą utratę snu REM i zmniejszony stosunek REM do NREM¹

Test lewodopy

W procesie diagnostycznym może być również stosowany krótki kurs leczenia lewodopą, aby ustalić, czy objawy są spowodowane PSP czy chorobą Parkinsona. Pacjenci z PSP zwykle nie reagują lub reagują słabo na leczenie lewodopą, w przeciwieństwie do pacjentów z chorobą Parkinsona¹².

Jednakże, jak zauważono: „Jednym z kryteriów rozpoznania PSP jest słaba odpowiedź na lewodopę. Jest to słabe w odniesieniu do poziomu odpowiedzi w chorobie Parkinsona”. W niektórych przypadkach lewodopa może leczyć spowolnienie, sztywność i problemy z równowagą związane z PSP, ale efekt jest zazwyczaj minimalny i krótkotrwały¹².

Znaczenie wczesnej diagnozy PSP

Wczesna diagnoza PSP jest niezwykle ważna z kilku powodów¹:

Umożliwia pacjentowi i jego rodzinie planowanie działań i organizację opieki, gdy pacjent może jeszcze uczestniczyć w podejmowaniu decyzji¹
Pozwala na wcześniejsze wdrożenie odpowiedniego leczenia objawowego i wsparcia, co może poprawić jakość życia pacjenta¹
Umożliwia udział w badaniach klinicznych nowych terapii¹
Daje pacjentom i rodzinom narzędzia potrzebne do wcześniejszego przystosowania się, zwiększenia bezpieczeństwa i dłuższego utrzymania niezależności¹

Należy jednak podkreślić, że PSP nadal pozostaje chorobą trudną do wczesnego zdiagnozowania, a diagnoza często jest opóźniona o kilka lat od wystąpienia pierwszych objawów¹.

Nowe kierunki w diagnostyce PSP

Badania nad PSP stale się rozwijają, a naukowcy poszukują nowych metod diagnostycznych, które mogłyby umożliwić wcześniejsze i dokładniejsze rozpoznanie tego schorzenia¹.

Obiecujące obszary badań obejmują:

Biomarkery w płynie mózgowo-rdzeniowym i krwi – naukowcy identyfikują specyficzne wzorce białek, które mogą służyć jako biomarkery PSP¹
Zaawansowane techniki obrazowania – w tym PET z wykorzystaniem znaczników tau, które mogą wykryć nieprawidłowe złogi białka tau w mózgu¹
Ulepszone kryteria diagnostyczne – dalsze doskonalenie kryteriów diagnostycznych w celu zwiększenia czułości i swoistości dla wczesnych i wariantowych form PSP¹

Celem tych badań jest stworzenie ram dla wykorzystania nowo zidentyfikowanych biomarkerów w przyszłych badaniach klinicznych i osiągnięcie punktu, w którym pojedynczy biomarker lub panel biomarkerów z testu krwi lub nakłucia lędźwiowego może zapewnić jednoznaczne wyniki diagnostyczne i prognostyczne dla PSP¹.

Wielodyscyplinarne podejście do diagnostyki PSP

Ze względu na złożoność PSP i szeroki zakres objawów, które mogą się pojawić, wielodyscyplinarne podejście do diagnostyki jest niezbędne¹.

Zespół diagnostyczny może obejmować:

Neurologa, najlepiej specjalizującego się w zaburzeniach ruchu
Neuropsychologa
Radiologa
Logopedę
Fizjoterapeutę
Innych specjalistów w zależności od potrzeb¹

Warto podkreślić, że diagnoza PSP musi być postawiona lub potwierdzona przez konsultanta z doświadczeniem w PSP, zwykle neurologa¹.

Mimo postępów w diagnostyce, PSP pozostaje chorobą trudną do wczesnego rozpoznania. Zwiększenie świadomości na temat PSP, szczególnie wśród społeczności medycznej, może prowadzić do wcześniejszej i dokładniejszej diagnozy¹.

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Materiały źródłowe

#1 Progressive supranuclear palsy: diagnosis and management | Practical Neurology
https://pn.bmj.com/content/21/5/376
Progressive supranuclear palsy (PSP) is not yet curable, but many aspects are certainly treatable. Indeed, the support and management of people with PSP can be both effective and rewarding. This article shares our experience in its proactive management, considering the patient, the family and the medical context in which the illness unfolds. Effective management starts with achieving an early, accurate diagnosis. We review new concepts in the diagnosis of PSP that have emerged over the last 10 years. We then consider the differential diagnosis and the role of investigations. We go on to review pharmacological treatment options and non-pharmacological aspects to effective holistic care, support and management. […] By the time of diagnosis, patients with PSP are typically 3 years from their first symptom. That is halfway through the illness. The lateness of diagnosis is multifactorial with delays seeking general practitioner advice, failure to recognise the significance of early symptoms and misdiagnosis as depression and/or Parkinson’s disease.
#1 Progressive Supranuclear Palsy Diagnosis | Progressive Supranuclear Palsy | UT Southwestern Medical Center
https://utswmed.org/conditions-treatments/progressive-supranuclear-palsy/progressive-supranuclear-palsy-diagnosis/
Many patients with progressive supranuclear palsy (PSP) have been misdiagnosed as having Parkinson’s disease, Alzheimer’s disease, or a vascular disease (such as a stroke). Specialists at UT Southwestern Medical Center have the experience and expertise to recognize and accurately diagnose PSP. […] Diagnosis begins with a thorough physical examination and assessment of the patients symptoms. Other tests that are done include: […] A physician who is familiar with PSP can make a clinical diagnosis based on symptoms, a brain MRI, and absence of a better explanation for the patients problems.
#1 Clinical Diagnosis of Progressive Supranuclear Palsy: The Movement Disorder Society Criteria
https://pmc.ncbi.nlm.nih.gov/articles/PMC5516529/
PSP is a neuropathologically defined disease entity. Clinical diagnostic criteria, published in 1996 by the National Institute of Neurological Disorders and Stroke/Society for PSP, have excellent specificity, but their sensitivity is limited for variant PSP syndromes with presentations other than Richardsons syndrome. We aimed to provide an evidence- and consensus-based revision of the clinical diagnostic criteria for PSP. Defined clinical, imaging, laboratory, and genetic findings serve as mandatory basic features, mandatory exclusion criteria, or context-dependent exclusion criteria. We identified four functional domains (ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction) as clinical predictors of PSP. The clinical criteria proposed by the National Institute of Neurological Disorders and Stroke and Society for PSP (NINDS-SPSP) are currently the most widely used criteria for the ante mortem diagnosis of PSP. They rely on the demonstration of a vertical supranuclear gaze palsy plus postural instability and falls within the first year of symptom onset to diagnose probable PSP. Possible PSP is diagnosed in the presence of either supranuclear gaze palsy or a combination of slow vertical saccades and postural instability with falls within the first year. The NINDS-SPSP criteria, as validated by autopsy, have excellent specificity, around 95% to 100% for probable PSP and around 80% to 93% for possible PSP. However, the criteria’s sensitivity for PSP overall is limited (median, 24%; range, 14%83%) at the first clinical visit. Diagnosis is typically made 3 to 4 years after onset of first symptoms, when the cardinal features, that is falls and supranuclear gaze palsy, have become unequivocally apparent. Thus, early and reliable diagnosis of PSP remains a major clinical challenge, but is justifiably demanded by patients and their carers and is highly important for estimation of prognosis, appropriate allocation to therapeutic trials, and development of new diagnostic tools. Therefore, the International Parkinson and Movement Disorder Society (MDS)-endorsed PSP Study Group set out to provide an evidence- and consensus-based revision of the NINDS-SPSP criteria. We aimed at improving the clinical detection of underlying PSP pathology by maintaining high diagnostic sensitivity for PSP-RS, improving sensitivity for early and variant PSP presentations, and achieving high specificity versus alternative diagnoses such as Parkinsons disease (PD), MSA with predominant parkinsonism (MSA-P), corticobasal syndrome (CBS) attributed to corticobasal degeneration (CBD) or alternative proteinopathies, and frontotemporal lobar degeneration (from any underlying non-PSP/CBD proteinopathy) presenting as bvFTD (FTLD-bvFTD). Here, we propose official MDS clinical diagnostic criteria for PSP (MDS-PSP criteria) for use in research and clinical practice. The MDS-PSP criteria were generated by the MDS-PSP study group in a three-step approach. We performed a systematic literature review covering the time since publication of the NINDS-SPSP criteria. The literature-based evidence was then summarized by the working groups for imaging and clinical aspects. We collected the largest autopsy-confirmed case series reported so far for PSP and disease controls from nine brain banks with a proven track record of a close collaboration with tertiary clinical referral centers. On the basis of the evidence obtained in the first two steps, the steering committee drafted an initial proposal of the criteria, which was distributed to the MDS-PSP study group members. Here, we present the MDS clinical diagnostic criteria for PSP. Basic features need to be present in a patient in order to be considered for the diagnosis of PSP of any phenotype and at any stage. Mandatory inclusion criteria indicate the presence of a sporadic, adult-onset, gradually progressive neurodegenerative disease. Mandatory exclusion criteria rule out PSP and need to be applied in any patient. Context-dependent exclusion criteria also rule out PSP, but should be applied only in patients presenting with suggestive, unusual clinical features justifying further investigation. We propose four core functional domains as characteristic clinical manifestations of PSP (ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction). In each domain, we propose three characteristic core clinical features, stratified by presumed levels of certainty that they contribute to the diagnosis of PSP. Supportive features are those having positive predictive values insufficient to qualify them as diagnostic features, but sufficient to provide helpful ancillary evidence to increase informal diagnostic confidence. We propose four levels of diagnostic certainty. Definite PSP is the neuropathological gold standard defining the disease entity, regardless of its clinical presentation. Probable PSP is diagnosed in the presence of a combination of clinical features with high specificity. Possible PSP is diagnosed in the presence of clinical features considered to substantially increase the sensitivity for PSP. Clinical syndromes suggestive of PSP have features that alone or in combination may constitute early, subtle evidence for PSP with modest, but still useful, positive predictive value. The MDS-PSP clinical diagnostic criteria are stratified by diagnostic certainty and may therefore be used for different purposes. The following diagnostic categories are proposed: Definite PSP can only be diagnosed by neuropathological examination at present. Currently, no other biomarker, imaging, or genetic finding with close to 100% sensitivity and specificity is available. Probable PSP is diagnosed in the presence of a combination of clinical features that may not be very sensitive for PSP, but are considered to be highly specific. Possible PSP is diagnosed in the presence of clinical features that substantially increase sensitivity, but at the possible cost of decreased specificity. Conditions suggestive of PSP represent subtle early signs of PSP, but do not meet the threshold for possible or probable PSP, and are suitable for early identification of individuals in whom the diagnosis may be confirmed as the disease evolves.
#1 Progressive Supranuclear Palsy: Practice Essentials, Background, Pathophysiology
https://emedicine.medscape.com/article/1151430-overview
Progressive supranuclear palsy (PSP) is a neurodegenerative disease whose characteristics include supranuclear, initially vertical, gaze dysfunction accompanied by extrapyramidal symptoms and cognitive dysfunction. The disease usually develops after the sixth decade of life, and the diagnosis is purely clinical. […] The diagnosis of PSP is clinical. Key features typically develop over time. Participants in a National Institute of Neurological Disorders and Stroke (NINDS)/Society for PSP conference have formulated and validated clinical research criteria for the diagnosis of PSP. In this system, criteria for possible PSP are as follows: Gradually progressive disorder with onset at age 40 years or older; Either vertical supranuclear palsy or both slowing of vertical saccades and prominent postural instability with falls in the first year of onset; No evidence of other diseases that can explain the clinical features.
#1 Imaging Criteria for the Diagnosis of Progressive Supranuclear Palsy: Supportive or Mandatory?
https://www.mdpi.com/2075-4418/13/11/1967
We present the case of a 54-year-old male, without any significant medical history, who insidiously developed speech disturbances and walking difficulties, accompanied by backward falls. […] The patient was initially diagnosed with Parkinsonâs disease; however, he failed to respond to standard therapy with Levodopa. […] A neurological exam was highly suggestive of a Parkinson-plus disease, most likely progressive supranuclear gaze palsy. […] Based on all clinical and paraclinical data, a diagnosis of probable progressive supranuclear palsy was established. […] The current diagnostic criteria for PSP were developed by the Movement Disorders Society in 2017 to increase the diagnostic sensitivity for the variant PSP syndromes (other than the classic presentation). […] They are based on (a) mandatory inclusion criteria and mandatory exclusion criteria, (b) involvement of four core functional domains (oculomotor dysfunction, akinesia, cognitive dysfunction, and postural instability), and (c) supportive features.
#1
https://www.psp.org/iwanttolearn/progressive-supranuclear-palsy
Progressive supranuclear palsy (PSP) is a rare neurodegenerative disorder that has no known cause or cure. […] Receiving a PSP diagnosis can be challenging and frustrating. Even for those not initially misdiagnosed, the process can be lengthy because many healthcare providers are unfamiliar with the disease. As a result, it can take a long time for people to receive an accurate diagnosis. […] To diagnose PSP, a neurologist will gather a persons medical history, including neurological symptoms, when they started, and how they impact the persons everyday functioning. They will also perform a physical examination where they will evaluate how a person walks, speaks, and moves their eyes, feet and hands. […] Neurologists will often refer to magnetic resonance imaging (MRI) to look for changes in the brain. On the MRI, there may be a noticeable atrophy found in the midbrain that resembles a hummingbird. The hummingbird sign on a MRI (sometimes called the penguin sign) can help to support a clinical diagnosis of PSP. […] Many people with PSP face a long and confusing diagnosis journey, including a number of tests, specialists, and diagnoses. It is our hope that better awareness of PSP, especially within the medical community, will lead to earlier and more accurate diagnosis.
#1 Progressive Supranuclear Palsy Diagnosis | Stanford Health Care
https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/progressive-supranuclear-palsy/diagnosis.html
A careful evaluation of symptoms can diagnose progressive supranuclear palsy (PSP), but PSP is difficult to diagnose in its early stages. […] Diagnosis usually includes ruling out other conditions. […] Balance problems and changes in gait are the clearest symptoms that can identify PSP, particularly when combined with an inability to control or move the eyes. […] Often, a careful neurological examination, cognitive testing, and imaging test are done to evaluate a person suspected of having PSP.
#1 Progressive Supranuclear Palsy (PSP): Symptoms & Treatment
https://my.clevelandclinic.org/health/diseases/6096-progressive-supranuclear-palsy
It can be difficult for healthcare providers to efficiently diagnose PSP. They often mistake it for Parkinsons disease, especially in the early stages. Theres no single test that can diagnose PSP. Providers usually diagnose PSP based on your symptoms and with imaging tests to take pictures of your brain. […] If your healthcare provider suspects you have PSP, theyll likely recommend a brain MRI (magnetic resonance imaging). This will help rule out other possible causes of your symptoms, such as Parkinsons disease or stroke. It may also show shrinking of your midbrain, which raises the likelihood of PSP. […] Although there are many symptoms of PSP, the one that often confirms the diagnosis is difficulty moving your eyes up and down. Other common symptoms like falling and difficulty swallowing also point to PSP.
#1 Progressive supranuclear palsy: diagnosis and management | Practical Neurology
https://pn.bmj.com/content/21/5/376
The diagnosis of PSP is usually not difficult with a few easy tips. Many of these apply even soon after symptom onset. Is there a tendency to fall over easily, in the first year of symptoms? Yes for PSP, no for Parkinson’s disease. Are the eyes staring, with an odd, fixed smile or grimace? Yes for PSP, no for Parkinson’s disease. […] Once in the consulting room, further differences are obvious. Typical PSP speech is not the quiet, hypophonia of Parkinson’s disease, but a more chaotic dysarthrophonia: distorted, slow and effortful, sometimes inappropriately loud then indistinct, often nasal in quality or low pitched with a gravelly drawl. […] A valuable sign that is not in the formal diagnostic criteria, but which can be seen before restriction and slowing, is a curvilinear path on downward saccades (round-the-houses sign).
#1 Progressive supranuclear palsy – Wikipedia
https://en.wikipedia.org/wiki/Progressive_supranuclear_palsy
Patients with the Richardson variant of PSP tend to have an upright posture or arched back, as opposed to the stooped-forward posture of other Parkinsonian disorders, although PSP-Parkinsonism can demonstrate a stooped posture. […] PSP can also be misdiagnosed as Alzheimer’s disease because of the behavioral changes. […] The visual symptoms are of particular importance in the diagnosis of this disorder. Patients typically complain of difficulty reading due to the inability to look downwards. […] Assessment of these square-wave jerks and diminished vertical saccades is especially useful for diagnosing progressive supranuclear palsy, because these movements set PSP patients apart from other parkinsonian patients.
#1 Progressive supranuclear palsy – Wikipedia
https://en.wikipedia.org/wiki/Progressive_supranuclear_palsy
Progressive supranuclear palsy (PSP) is a late-onset neurodegenerative disease involving the gradual deterioration and death of specific volumes of the brain. The condition leads to symptoms including loss of balance, slowing of movement, difficulty moving the eyes, and cognitive impairment. PSP may be mistaken for other types of neurodegeneration such as Parkinson’s disease, frontotemporal dementia and Alzheimer’s disease. […] Magnetic resonance imaging (MRI) is often used to diagnose PSP. MRI may show atrophy in the midbrain with preservation of the pons giving a „hummingbird” sign. […] PSP is frequently misdiagnosed as Parkinson’s disease because they both involve slowed movements and gait difficulty, with PSP being one of a collection of diseases referred to as Parkinson plus syndromes.
#1 Azthena logo with the word Azthena
https://www.news-medical.net/health/Progressive-Supranuclear-Palsy-(PSP)-Diagnosis.aspx
When diagnosing a patient who has PSP, it is important for the doctor to differentiate it from other disorders which may exhibit a number of overlapping symptoms. […] Some distinct features of PSP that aid in arriving at the right diagnosis include: no tremors (shaking); difficulty with focusing the gaze, particularly looking down (downward palsy); very little or no response to medications typically used in Parkinsons disease. […] Four certainty levels have been specified for the diagnosis of PSP, ranging from definitive PSP to clinical symptoms suggestive of PSP that may suggest an early or subtle onset of PSP.
#1 Progressive Supranuclear Palsy (PSP) – PsychDB
https://www.psychdb.com/geri/dementia/progressive-supranuclear-palsy-psp
Progressive Supranuclear Palsy (PSP) is a rare neurodegenerative disorder characterized by early postural instability, leading to falls, and a characteristic vertical supranuclear-gaze palsy on physical exam. It is classified as an atypical parkinsonian syndrome (or Parkinson’s Plus). […] The National Institute of Neurological Disorders and Stroke and Society for PSP (NINDS-SPSP) criteria are the most widely used criteria for the diagnosis of PSP. […] The International Parkinson and Movement Disorder Society (MDS)-endorsed PSP Study Group set out to provide an evidence and consensus-based revision of the NINDS-SPSP criteria in 2017, with a much more comprehensive set of criteria. […] The definite diagnosis of PSP requires a post-mortem neuropathological examination. […] Differentiation of PSP from Parkinson’s disease (PD) and Multiple System Atrophy (MSA) can be difficult, particularly in the early stages of the disease.
#1 Progressive Supranuclear Palsy (PSP) | National Institute of Neurological Disorders and Stroke
https://www.ninds.nih.gov/health-information/disorders/progressive-supranuclear-palsy-psp
Currently there are no tests or brain imaging techniques to definitively diagnose PSP. A physician will review your medical history and perform a physical and neurological exam. It is important to identify problems with gait, eye movements, speech, and swallowing early. Exams can help rule out other similar disorders. Diagnostic imaging may show shrinkage at the top of the brain stem and help doctors examine brain activity in certain areas. […] There is currently no treatment that effectively stops or slows the progression of PSP, and symptoms usually do not respond well to medications. […] Parkinson’s disease medications rarely help people with PSP. In some individuals, levodopa can treat the slowness, stiffness, and balance problems associated with PSP, but the effect is usually minimal and short-lasting. […] Deep brain stimulation via devices that deliver electrical stimulation to parts of the brain and other surgical procedures commonly used in Parkinson’s have not proven effective in PSP.
#1 Progressive supranuclear palsy | Radiology Reference Article | Radiopaedia.org
https://radiopaedia.org/articles/progressive-supranuclear-palsy-1?lang=us
Progressive supranuclear palsy (PSP), also known as the Steele-Richardson-Olszewski syndrome, comprises a group of related tauopathies and is considered a neurodegenerative disease with no efficacious treatment. […] Although certain features help in favoring PSP over alternative clinical diagnoses (e.g. Parkinson disease or multiple system atrophy) it should be noted that except in classical cases, imaging features can usually at most be suggestive of the diagnosis rather than pathognomonic, as there is overlap with other conditions. […] MRI features include midbrain atrophy, a useful imaging biomarker in classic and brainstem variants PSP. […] I-123 ioflupane SPECT: dopamine active transporter imaging shows loss of the normal comma- or crescent-shaped tracer uptake in the striatum. Instead, a period- or oval-shaped uptake is seen within the caudate nucleus head without tracer uptake in the putamen; quantitative assessment reveals reduced uptake in the putamen compared to norms. […] F-18 FDG PET: frontal lobe and/or midbrain hypometabolism support the diagnosis.
#1 Imaging Criteria for the Diagnosis of Progressive Supranuclear Palsy: Supportive or Mandatory?
https://www.mdpi.com/2075-4418/13/11/1967
When combined, these features give rise to one of three degrees of clinical diagnostic certainty: (1) suggestive of PSP, (2) possible PSP, and (3) probable PSP. […] There is also definite PSP, which can be currently diagnosed only by postmortem histopathological examination. […] Based on the available diagnostic criteria for PSP, we established a diagnosis of probable PSP due to the presence of mandatory inclusion criteria, absence of mandatory exclusion criteria, and characteristic core features: ocular motor dysfunction and postural instability (O1 + P1). […] Brain MRI was repeated in 2022 and revealed moderate midbrain atrophy, which is considered to be a supportive feature for PSP diagnosis. […] The MR parkinsonism index is a tool developed by Quattrone et al. for differentiating between PSP on the one hand, and idiopathic PD and MSA on the other.
#1 Webinar Notes: Understanding Progressive Supranuclear Palsy (PSP) Stanford PD Community Blog
https://parkinsonsblog.stanford.edu/2024/11/webinar-notes-understanding-progressive-supranuclear-palsy-psp/
PSP diagnosis is based on symptoms. There is no specific test. […] Complex guidelines help neurologists (especially movement disorders specialists) to rule out Probable vs Possible diagnoses in order to increase confidence that everything has been considered and the correct diagnosis has been made. Includes observation of characteristic features and supportive tests. […] Imaging is NEVER a substitute for a very detailed physical exam and history. […] PSP diagnosis requires expert history and an exam by a movement disorders specialist (and may require autopsy to confirm). There is no diagnostic test at this time.
#1 Progressive Supranuclear Palsy | PSP | MedlinePlus
https://medlineplus.gov/progressivesupranuclearpalsy.html
How is progressive supranuclear palsy (PSP) diagnosed? There is no specific test for PSP. It can be difficult to diagnose, because the symptoms are similar to other diseases such as Parkinson’s disease and Alzheimer’s disease. […] To make a diagnosis, your health care provider will take your medical history and do physical and neurological exams. You may have an MRI or other imaging tests.
#1 Progressive Supranuclear Palsy (PSP) Information Page » Norman Fixel Institute for Neurological Diseases » University of Florida
https://fixel.ufhealth.org/getting-care/centers-of-excellence/progressive-supranuclear-palsy-atypical-parkinsonism-center-of-excellence/progressive-supranuclear-palsy-psp-information-page/
While a thorough history and exam are most important, diagnostic testing can also be useful in supporting diagnosis. One of the most helpful tests is brain MRI (magnetic resonance imaging). […] Measurement of the midbrain size and ratio to other parts (pons) of the brainstem may be helpful in distinguishing PSP from Parkinson disease and another atypical parkinson disorder, multisystem atrophy (MSA). […] Clinical testing of blood or other tissues (such as cerebral spinal fluid, CSF) for PSP is generally not done. So far the search for useful biomarkers in blood or CSF has not yielded a reliable test for PSP, but is a subject of active research. Genetic testing is currently done only for research.
#1 Scientists May Have Found How to Diagnose Elusive Neuro Disorder | UC San Francisco
https://www.ucsf.edu/news/2024/07/427996/scientists-may-have-found-how-diagnose-elusive-neuro-disorder
Progressive supranuclear palsy (PSP), a mysterious and deadly neurological disorder, usually goes undiagnosed until after a patient dies and an autopsy is performed. But now, UC San Francisco researchers have found a way to identify the condition while patients are still alive. […] A study appearing in Neurology on July 3 has found a pattern in the spinal fluid of PSP patients, using a new high-throughput technology that can measure thousands of proteins in a tiny drop of fluid. […] Researchers hope the protein biomarkers will lead to the development of a diagnostic test and targeted therapies to stall the diseases fatal trajectory. […] Unlike Alzheimers disease, there are no tau scans, blood tests or MRIs that provide a definitive diagnosis of PSP. For many patients the disease goes unnoticed, said co-senior author Julio Rojas, MD, PhD, of the UCSF Department of Neurology, Memory and Aging Center and the Weill Institute for Neurosciences.
#1 Health A to Z – Wirral Community Health and Care NHS Foundation Trust
https://www.wchc.nhs.uk/health-care/health/progressive-supranuclear-palsy-psp/diagnosis
Itâs also likely youâll be referred to a neurologist, and possibly also a psychologist for neuropsychological testing. […] Most people with PSP have a distinct pattern in terms of their mental abilities, including: poor concentration, a low attention span, problems with spoken language and processing visual information. […] Support from your family and care team can help you come to terms with the diagnosis.
#1 Progressive Supranuclear Palsy: Practice Essentials, Background, Pathophysiology
https://emedicine.medscape.com/article/1151430-overview
Criteria for probable PSP are vertical supranuclear palsy with prominent postural instability, falls in the first year of onset, and other features of possible PSP, as follows: Abnormal neck posture, especially retrocollis; Poor or absent response of parkinsonism to levodopa therapy; Early dysphagia and dysarthria; Early cognitive impairment with at least 2 of the following: apathy, abstract thought impairment, decreased verbal fluency, imitation behavior, or frontal release signs. […] Criteria for definite PSP are as follows: History of probable or possible PSP; Histopathologic evidence that is typical of the disease. […] The workup in patients with suspected PSP is directed principally at eliminating other diagnoses (eg, Whipple PCR to eliminate possible Whipple disease). MRI offers little help in the early stages of PSP, but may reveal the following abnormalities in some advanced cases: Atrophy of the midbrain with cisternal and ventricular dilatation; Thinning of the quadrigeminal plate; Dilation of the third ventricle; A nonspecific finding of increase in proton density images in the periaqueductal gray matter, compatible with gliotic changes. […] Sleep studies in patients with PSP show the following abnormalities, although these are not specific for PSP: Diminished total sleep time; Increased awakenings; Progressive loss of rapid-eye-movement (REM) sleep; Decreased REMtonon-REM (NREM) quotient.
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https://111.wales.nhs.uk/encyclopaedia/p/article/progressivesupranuclearpalsy/
Your doctor will need to carry out assessments of your symptoms, plus other tests and scans. […] The diagnosis must be made or confirmed by a consultant with expertise in PSP. […] If you have symptoms of PSP that suggest there’s something wrong with your brain, it’s likely you’ll be referred for a brain scan. […] These scans can be useful in ruling out other possible conditions, such as brain tumours or stroke. […] MRI scans can also detect changes to the brain that are consistent with a diagnosis of PSP, such as shrinkage of certain areas. […] You may be prescribed a short course of a medication called levodopa to determine whether your symptoms are caused by PSP or Parkinson’s disease. […] It’s also likely you’ll be referred to a neurologist, and possibly also a psychologist for neuropsychological testing. […] The diagnosis must be made or confirmed by a consultant with expertise in PSP.
#1 Progressive supranuclear palsy: diagnosis and management | Practical Neurology
https://pn.bmj.com/content/21/5/376
One of the criteria for the diagnosis of PSP is that it is poorly responsive to levodopa. This is poor with respect to the level of response in Parkinson’s disease. […] So, PSP is not Parkinson’s disease! It is usually not difficult to diagnose the classical presentation, known commonly as Richardson’s syndrome. […] PSP is essentially a clinical diagnosis, and when made by a neurologist has very high clinicopathological correlations. […] The new criteria also introduce formal levels of diagnostic certainty, from definite (pathology confirmation); probable, possible and suggestive of PSP. […] The involvement of palliative care teams can be hugely beneficial. Such teams often have a wide range of services, many not available elsewhere, and more readily accessible.
#1 Progressive Supranuclear Palsy: 4 Stages, Symptoms & Care | Plexus
https://plexusnc.com/progressive-supranuclear-palsy-stages-treatment/
Diagnosing PSP isn’t straightforward. Many of its early symptoms overlap with other neurodegenerative diseases, particularly Parkinson’s. A neurologist may begin by evaluating walking patterns, eye movement limitations, speech clarity, and memory function. […] Advanced imaging, such as MRI or PET scans, can help detect tau protein buildup and rule out other conditions. Since there’s no single test to confirm PSP, diagnosis often depends on clinical observation and ruling out lookalike disorders. […] Thanks to recent progress in imaging and biomarker studies, doctors are now better equipped to identify PSP earlier. PET scans that highlight abnormal tau deposits, along with new blood-based biomarkers, are improving diagnostic accuracy. […] Early diagnosis is essential not just for planning treatment, but for giving patients and families the tools they need to adapt sooner, stay safer, and maintain independence longer.
#1 Progressive Supranuclear Palsy (PSP): Life Expectancy, Signs, Causes, Treatment
https://www.medicinenet.com/progressive_supranuclear_palsy/article.htm
The life expectancy of someone with progressive supranuclear palsy typically is six to ten years after their diagnosis. […] Because PSP mainly affects older people and has somewhat similar symptoms, it is often mistaken for Parkinson’s disease, a much more common movement disorder. The distinction is important because treatments that help many people with Parkinson’s disease do not help those with PSP. […] Early diagnosis allows the affected person to plan activities and make arrangements for care while he or she can still take part in making the decisions. […] Symptoms and complications of progressive supranuclear palsy can be managed with drug therapy, but the underlying disease is not affected. No known treatment can stop progressive supranuclear palsy. […] At present, there is no cure for progressive supranuclear palsy. The goals of treatment are to effectively manage symptoms (such as walking and swallowing problems) and to maximize safety and quality of life. […] The medical care of a person with progressive supranuclear palsy usually involves a team of health professionals. The team provides different aspects of care under the supervision of a leader, usually a neurologist.
#1 Progressive supranuclear palsy (PSP): Management and prognosis – UpToDate
https://www.uptodate.com/contents/progressive-supranuclear-palsy-psp-management-and-prognosis
Progressive supranuclear palsy (PSP) is an atypical parkinsonian disorder characterized by vertical supranuclear gaze palsy and postural instability with unexplained falls. This topic will review the management and prognosis of PSP. Other aspects of PSP are reviewed elsewhere. […] There are no treatments that alter the natural history of disease in PSP and no drugs that provide significant symptomatic benefits as seen with levodopa in Parkinson disease. However, several nonpharmacologic and pharmacologic supportive measures are available for the treatment of PSP. […] A multidisciplinary approach is essential, involving health care professionals from neurology, physical therapy, occupational therapy, speech pathology, nutrition, neuropsychology, psychiatry, social work, and palliative care. […] Some experts advise routine swallowing evaluations (eg, every six months) to assess the risk for dysphagia and aspiration, which are major causes of mortality in patients with PSP.
#1 Progressive Supranuclear palsy (PSP) disease progression, management, and healthcare resource utilization: a retrospective observational study in the US and Canada | Orphanet Journal of Rare Diseases | Full Text
https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03168-z
The majority of participants (86.1%) in our cohort were prescribed levodopa or carbidopa at any time. […] The PSP phenotype was not well documented in the records for most participants in the current study, suggesting that better education is required to make healthcare providers more aware of PSP phenotypes. […] This study adds to our current knowledge and understanding of PSP symptoms, comorbidities, and HRU across the disease journey.
#1 Frontiers | Clinical features of progressive supranuclear palsy
https://www.frontiersin.org/journals/aging-neuroscience/articles/10.3389/fnagi.2023.1229491/full
There was a delay, usually 3 years, from the onset of symptoms to the diagnosis of PSP. […] Early diagnosis and detection of PSP-P was critical. Our result was consistent with previous studies that midbrain-based MRI parameters had significantly decreased in the PSP-P group compared with those in the PD group. […] Moreover, among them, MTPR â¤0.56, midbrain diameter â¤0.92, midbrain area â¤1.00, and third ventricle width â¤0.75 could identify PSP-P from PD with good diagnostic accuracy.
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https://link.springer.com/article/10.1007/s11940-024-00784-9
This review describes the current approaches to the diagnosis and management of progressive supranuclear palsy (PSP) […] While definite PSP remains a neuropathological diagnosis, imaging modalities including brain magnetic resonance imaging (MRI), dopamine transporter (DAT), and tau positron emission tomography (PET) scans may aid in the diagnosis. […] Improved clinical diagnostic criteria, emerging biomarkers, and availability of useful therapeutic approaches provide cause for optimism.
#1 Identifying biomarkers for progressive supranuclear palsy
https://www.drugtargetreview.com/news/151440/identifying-biomarkers-for-progressive-supranuclear-palsy/
Protein biomarkers in spinal fluid linked to PSP could enable earlier diagnosis and treatment for this neurological disorder. […] Researchers at UC San Francisco discovered a method to identify progressive supranuclear palsy (PSP), a mysterious and fatal neurological disorder, while patients are still alive. […] Unlike Alzheimers disease, there are no tau scans, blood tests or MRIs that provide a definitive diagnosis of PSP. […] Previous research has underscored the value of several non-specific neurodegeneration biomarkers in PSP, but they have had limited sensitivity and specificity for diagnosis, particularly at this critical early disease stage. […] This work aims to create a framework for using these newly identified proteins in future clinical trials. We hope to reach a point where a single biomarker, or a panel of biomarkers from a blood test or lumbar puncture, can provide definitive diagnostic and prognostic results for PSP.
#1 Scientists May Have Found How to Diagnose Elusive Neuro Disorder | UC San Francisco
https://www.ucsf.edu/news/2024/07/427996/scientists-may-have-found-how-diagnose-elusive-neuro-disorder
The inability to identify PSP has hampered the development of new treatments, according to co-senior author Adam Boxer, MD, PhD, endowed professor in memory and aging at the UCSF Department of Neurology, and director of the Alzheimers Disease and Frontotemporal Dementia Clinical Trials Program. […] Previous research has underscored the value of several non-specific neurodegeneration biomarkers in PSP, but they have had limited sensitivity and specificity for diagnosis, particularly at this critical early disease stage, he said. […] This work aims to create a framework for using these newly identified proteins in future clinical trials, said first author, Amy Wise, formerly of the UCSF Department of Neurology, and the Memory and Aging Center, and currently a medical student at UC Davis. We hope to reach a point where a single biomarker, or a panel of biomarkers from a blood test or lumbar puncture, can provide definitive diagnostic and prognostic results for PSP.
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https://www.nhs.uk/conditions/progressive-supranuclear-palsy-psp/
There’s no single test for PSP. Instead, the diagnosis is based on the pattern of your symptoms. […] The large number of possible symptoms of PSP also makes it difficult to diagnose correctly and can mean it takes a while to get a definitive diagnosis. […] The diagnosis must be made or confirmed by a consultant with expertise in PSP. This will usually be a neurologist (a specialist in conditions affecting the brain and nerves).
#2 Progressive supranuclear palsy – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/progressive-supranuclear-palsy/diagnosis-treatment/drc-20355664
Progressive supranuclear palsy can be hard to diagnose because symptoms are similar to those of Parkinson’s disease. Your healthcare professional may suspect that you have progressive supranuclear palsy rather than Parkinson’s disease if you: […] You may need an MRI to learn if you have shrinkage in specific regions of the brain associated with progressive supranuclear palsy. An MRI also can help exclude disorders that may mimic progressive supranuclear palsy, such as a stroke. […] A positron emission tomography (PET) scan also may be recommended to check for early signs of changes in the brain that may not appear on an MRI. […] In addition to the questions that you’ve prepared, don’t hesitate to ask other questions during your appointment. […] Your healthcare professional is likely to ask you a number of questions. Being ready to answer them may allow more time to go over points you’d like to address.
#2 Progressive Supranuclear palsy (PSP) disease progression, management, and healthcare resource utilization: a retrospective observational study in the US and Canada | Orphanet Journal of Rare Diseases | Full Text
https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03168-z
Progressive supranuclear palsy (PSP) is a rare neurodegenerative brain disease with rapid progression and currently limited treatment options. […] Despite advancements in understanding the disease, treatment options are limited to symptomatic and supportive therapies, and there remains no approved disease-modifying treatment for PSP. […] In addition to the need for accurate and timely diagnosis of PSP, understanding disease progression is a concern for patients, caregivers, and physicians, especially given the lack of disease-modifying treatments. […] The median time from symptom onset to diagnosis was 3.7 years, which is consistent with other studies showing significant delays between symptom onset and PSP diagnosis of 3.5 to 4.9 years. […] The most common symptoms experienced prediagnosis and at any time during the disease course were very similar to other studies of PSP symptoms, with falls, gait problems, and mobility problems as the most common symptoms prediagnosis and overall.
#2 PSP Progressive Supranuclear Palsy | Definitions, Symptoms, Help
https://www.pspassociation.org.uk/information-and-support/what-is-psp/
PSP often gets misdiagnosed as Parkinson’s disease early on due to some overlapping symptoms like problems with balance, walking, coordination, and eye movements. […] A key reason why estimating prevalence is problematic is that Progressive Supranuclear Palsy (PSP) is extremely hard to diagnose correctly. Around 60% of people are initially misdiagnosed with other conditions, including Parkinson’s disease, a stroke or depression. […] It can take up to three years from the onset of the first symptoms for someone to receive the correct PSP diagnosis. Currently, there is no definitive test that can be offered to diagnose PSP. […] A diagnosis of probable or definite PSP requires gradually emerging symptoms, examination findings confirming brain cell damage consistent with PSP, and ruling out other possible causes.
#2 Azthena logo with the word Azthena
https://www.news-medical.net/health/Progressive-Supranuclear-Palsy-(PSP)-Diagnosis.aspx
Progressive supranuclear palsy (PSP) is a rare brain disorder that affects approximately 6 in 100,000 people worldwide. […] There is no single test that can be performed to identify PSP, and the diagnosis is made on the basis of the symptoms experienced by the patient. This is why a thorough medical examination is crucial to arrive at the right diagnosis. […] The NINDS-SPSP criteria require: Difficulty gazing downwards, followed by difficulty gazing upwards (vertical supranuclear gaze palsy) caused by the weakening of extraocular muscles; Loss of balance and lack of coordination (prominent postural instability); Incidence of falls in the first year of the condition occurring. […] In 2017 the Movement Disorder Society (MDS) proposed new criteria for diagnosing PSP. […] An enlargement of the aqueduct and third ventricle, and a signal increase in the inferior olives, may be present as well.
#2 Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria. | ADGC
https://www.adgenetics.org/content/clinical-diagnosis-progressive-supranuclear-palsy-movement-disorder-society-criteria
PSP is a neuropathologically defined disease entity. Clinical diagnostic criteria, published in 1996 by the National Institute of Neurological Disorders and Stroke/Society for PSP, have excellent specificity, but their sensitivity is limited for variant PSP syndromes with presentations other than Richardson’s syndrome. We aimed to provide an evidence- and consensus-based revision of the clinical diagnostic criteria for PSP. Defined clinical, imaging, laboratory, and genetic findings serve as mandatory basic features, mandatory exclusion criteria, or context-dependent exclusion criteria. We identified four functional domains (ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction) as clinical predictors of PSP. Within each of these domains, we propose three clinical features that contribute different levels of diagnostic certainty. Specific combinations of these features define the diagnostic criteria, stratified by three degrees of diagnostic certainty (probable PSP, possible PSP, and suggestive of PSP). Here, we present new criteria aimed to optimize early, sensitive, and specific clinical diagnosis of PSP on the basis of currently available evidence.
#2 Diagnosis of Progressive Supranuclear Palsy
https://www.neurologylive.com/view/diagnosis-progressive-supranuclear-palsy
Progressive supranuclear palsy (PSP), initially called Steele-Richardson-Olszewski syndrome, is a sporadic neurodegenerative disease. […] A diagnosis of probable PSP requires vertical supranuclear gaze palsy and postural instability and falls within 1 year of disease onset. […] A diagnosis of possible PSP requires either vertical supranuclear gaze palsy or a combination of slow vertical saccades and postural instability with falls within 1 year. […] A diagnosis of definite PSP requires a history of probable or possible PSP and pathologic evidence of PSP by the aggregation of the microtubule-associated protein tau in neurofibrillary tangles and neuropil threads, astrocytic tufts and oligodendrocytic coils in the brainstem, basal ganglia, diencephalon, and cerebellum. […] The NINDS-SPSP criteria have high specificity useful for research, but low sensitivity making early diagnosis difficult because typical features such as vertical gaze palsy may be absent in early or even advanced stages.
#2 Clinical Version: Progressive Supranuclear Palsy (PSP) Diagnosis | QxMD
https://qxmd.com/calculate/calculator_567/diagnosis-of-progressive-supranuclear-palsy-psp
Diagnosis of Progressive Supranuclear Palsy (PSP) […] The 2017 Movement Disorder Society Criteria aim to improve upon previous diagnostic criteria by elucidating the distinct subtypes of the disease. All patients must have sporadic presentation after the age of 40 and subsequently progress. The criteria rest upon four clinical domains: oculomotor dysfunction, postural instability, akinesia, and cognitive dysfunction. Definite PSP can only be diagnosed upon autopsy, but the clinical criteria aim to diagnose 'Probable PSP’ with a high degree of specificity. The category of 'Possible PSP’ is has high sensitivity, but this comes at the cost of specificity. The least specific category is 'Suggestive of PSP’. […] Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria. Movement Disorders 2017 Jun; 32(6):853-864. […] How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsy. Movement Disorders 2019 Mar 18; 34 (8): 1228-1232.
#2 Progressive Supranuclear Palsy | Conditions | UCSF Health
https://www.ucsfhealth.org/conditions/progressive-supranuclear-palsy
Patients tend to be middle-age or elderly. Men are affected more often than women. The disease can be difficult to diagnose because it’s rare and sometimes mistaken for Parkinson’s disease. […] An early diagnosis of progressive supranuclear palsy (PSP) is difficult because initial complaints typically are vague. PSP often is misdiagnosed because some symptoms are very much like those of Parkinson’s disease, Alzheimer’s disease and more rare neuro-degenerative disorders, such as Creutzfeldt-Jakob disease. Memory problems and personality changes may lead a doctor to mistake PSP for depression or even attribute symptoms to some form of dementia. […] A thorough evaluation is important to diagnosis PSP. This involves an interview with you and another person such as a spouse, relative or close friend to provide examples of behavior and daily activities, physical testing for mobility and vision, and neuropsychological testing for evaluation of thinking and reasoning.
#2 Progressive supranuclear palsy – Symptoms, diagnosis and treatment | BMJ Best Practice US
https://bestpractice.bmj.com/topics/en-us/3000330
Progressive supranuclear palsy (PSP) is a neurodegenerative disorder that classically presents with oculomotor dysfunction (abnormal vertical eye movements), postural instability and falls, parkinsonism, and cognitive (mainly executive) dysfunction. […] The diagnosis of PSP during life is clinical and relies on careful history-taking and physical examination, supported by characteristic findings on brain magnetic resonance imaging. […] Definitive diagnosis requires postmortem pathology. […] Many patients are initially diagnosed with Parkinson disease but a poor, transient, or absent response to levodopa and/or examination of eye movements can point to PSP as the correct diagnosis. […] Key diagnostic factors include postural instability with unexplained (often backward) falls, abnormal vertical eye movements, parkinsonism, cognitive dysfunction, and rapidly progressive symptoms. […] The first tests to order for diagnosis include brain MRI and a levodopa trial.
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https://www.psp.org/iwanttolearn/progressive-supranuclear-palsy
Progressive supranuclear palsy (PSP) is a rare neurodegenerative disorder that has no known cause or cure. […] Receiving a PSP diagnosis can be challenging and frustrating. Even for those not initially misdiagnosed, the process can be lengthy because many healthcare providers are unfamiliar with the disease. As a result, it can take a long time for people to receive an accurate diagnosis. […] To diagnose PSP, a neurologist will gather a persons medical history, including neurological symptoms, when they started, and how they impact the persons everyday functioning. They will also perform a physical examination where they will evaluate how a person walks, speaks, and moves their eyes, feet and hands. […] Neurologists will often refer to magnetic resonance imaging (MRI) to look for changes in the brain. On the MRI, there may be a noticeable atrophy found in the midbrain that resembles a hummingbird. The hummingbird sign on a MRI (sometimes called the penguin sign) can help to support a clinical diagnosis of PSP. […] Many people with PSP face a long and confusing diagnosis journey, including a number of tests, specialists, and diagnoses. It is our hope that better awareness of PSP, especially within the medical community, will lead to earlier and more accurate diagnosis.
#2 Imaging Criteria for the Diagnosis of Progressive Supranuclear Palsy: Supportive or Mandatory?
https://www.mdpi.com/2075-4418/13/11/1967
The use of the MRPI in distinguishing between PSP and probable or possible PD has been validated by other authors, who noted a 100% sensitivity and an over 99% specificity. […] Imaging features are currently considered only ancillary criteria for the clinical diagnosis of PSP, but their relevance and importance might increase in the future. […] The MRPI and its improved version MRPI 2.0 are the most promising tools in differentiating patients with PSP from those with other parkinsonian syndromes.
#2 Progressive Supranuclear Palsy: 4 Stages, Symptoms & Care | Plexus
https://plexusnc.com/progressive-supranuclear-palsy-stages-treatment/
Diagnosing PSP isn’t straightforward. Many of its early symptoms overlap with other neurodegenerative diseases, particularly Parkinson’s. A neurologist may begin by evaluating walking patterns, eye movement limitations, speech clarity, and memory function. […] Advanced imaging, such as MRI or PET scans, can help detect tau protein buildup and rule out other conditions. Since there’s no single test to confirm PSP, diagnosis often depends on clinical observation and ruling out lookalike disorders. […] Thanks to recent progress in imaging and biomarker studies, doctors are now better equipped to identify PSP earlier. PET scans that highlight abnormal tau deposits, along with new blood-based biomarkers, are improving diagnostic accuracy. […] Early diagnosis is essential not just for planning treatment, but for giving patients and families the tools they need to adapt sooner, stay safer, and maintain independence longer.
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https://www.brain.northwestern.edu/dementia/psps/diagnosis.html
PSPS is diagnosed on the basis of a clinical examination by a physician, usually a neurologist or a psychiatrist. The diagnosis of PSPS is made in the context of the history, cognitive examination, and neurological examination. […] Neuropathologic assessment at autopsy remain the only certain means to diagnose PSP, one of several neuropathologic causes of PSPS. […] There are no definitive biomarkers for PSP, though there are several types of brain imaging scans that can help support or rule out the diagnosis of PSP. […] A magnetic resonance imaging (MRI) study of the brain can reveal atrophy or shrinking in certain areas of the brainstem. […] Two functional brain imaging scans may be used to aid the diagnosis. […] To see decreased activity in certain areas of the brain and brainstem in PSPS, a Fluorodeoxyglucose-positron emission tomography (FDG-PET) scan can be done. […] To view neurons in the brain, SPECT imaging of dopamine transporters (DaT) can be done. Although abnormal in PSP, and SPECT imaging is used to identify other pathologies, such as Parkinsons disease, Lewy Body disease, multiple system atrophy, and corticobasal degeneration (CBD).
#2 Scientists May Have Found How to Diagnose Elusive Neuro Disorder | UC San Francisco
https://www.ucsf.edu/news/2024/07/427996/scientists-may-have-found-how-diagnose-elusive-neuro-disorder
The inability to identify PSP has hampered the development of new treatments, according to co-senior author Adam Boxer, MD, PhD, endowed professor in memory and aging at the UCSF Department of Neurology, and director of the Alzheimers Disease and Frontotemporal Dementia Clinical Trials Program. […] Previous research has underscored the value of several non-specific neurodegeneration biomarkers in PSP, but they have had limited sensitivity and specificity for diagnosis, particularly at this critical early disease stage, he said. […] This work aims to create a framework for using these newly identified proteins in future clinical trials, said first author, Amy Wise, formerly of the UCSF Department of Neurology, and the Memory and Aging Center, and currently a medical student at UC Davis. We hope to reach a point where a single biomarker, or a panel of biomarkers from a blood test or lumbar puncture, can provide definitive diagnostic and prognostic results for PSP.
#2 Alzprotect – Progressive Supranuclear Paralysis
https://www.alzprotect.com/patients/progressive-supranuclear-paralysis
PSP is still very little known by the general public, and also by medical professionals. An average of three to four years may pass between the first symptoms and the diagnosis. This difficult diagnosis is primarily based on the age (over 40 years old) and the evolution of symptoms. […] Several tests help perform a more accurate diagnosis: […] Neurological exam to assess eye movements, balance, movements, language and intellectual functions. […] Biological samples are useful to detect any disease with similar symptoms that could be treated. […] Brain MRI to assess the possible presence of any tumor, abscess or vascular disease. […] Eye movement exam to record eye movements and confirm the diagnosis.
#2 Progressive Supranuclear Palsy (PSP) | National Institute of Neurological Disorders and Stroke
https://www.ninds.nih.gov/health-information/disorders/progressive-supranuclear-palsy-psp
Currently there are no tests or brain imaging techniques to definitively diagnose PSP. A physician will review your medical history and perform a physical and neurological exam. It is important to identify problems with gait, eye movements, speech, and swallowing early. Exams can help rule out other similar disorders. Diagnostic imaging may show shrinkage at the top of the brain stem and help doctors examine brain activity in certain areas. […] There is currently no treatment that effectively stops or slows the progression of PSP, and symptoms usually do not respond well to medications. […] Parkinson’s disease medications rarely help people with PSP. In some individuals, levodopa can treat the slowness, stiffness, and balance problems associated with PSP, but the effect is usually minimal and short-lasting. […] Deep brain stimulation via devices that deliver electrical stimulation to parts of the brain and other surgical procedures commonly used in Parkinson’s have not proven effective in PSP.