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atypical progressive supranuclear palsy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atypical progressive supranuclear palsy syndrome

MONDO:0020488

Also known as:atypical PSP syndrome

Overview

Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA).

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

The spectrum of clinical manifestations of MAPT-related frontotemporal dementia (MAPT-FTD) has expanded from its original description of frontotemporal dementia and parkinsonian manifestations to include changes in behavior, motor function, memory, and/or language . A recent retrospective study suggested that the majority of affected individuals have either behavioral variant FTD (bvFTD) or, less commonly, a parkinsonian syndrome (i.e., progressive supranuclear palsy, corticobasal syndrome, or Parkinson disease). Fewer than 5% of people with MAPT-FTD have primary progressive aphasia or Alzheimer disease . Of note, however, in this retrospective study many affected individuals had received only a diagnosis of an unspecified dementia. Furthermore, clinical presentation may differ between and within families with the same MAPT variant. Table 2. MAPT-Related Frontotemporal Dementia: Frequency of Select Features

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for MAPT-related frontotemporal dementia (MAPT-FTD) have been published. However, diagnostic criteria for features of FTD including behavioral changes (full text), corticobasal degeneration (full text), progressive supranuclear palsy (full text), and primary progressive aphasia (full text) have been published.

Suggestive Findings

MAPT-FTD should be suspected in individuals with the following clinical features, neuroimaging findings, and family history.

Clinical features

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for atypical progressive supranuclear palsy syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for MAPT-related frontotemporal dementia (MAPT-FTD) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with MAPT-FTD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. MAPT-Related Frontotemporal Dementia: Recommended Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 6. MAPT-Related Frontotemporal Dementia: Recommended Surveillance

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for atypical progressive supranuclear palsy syndrome.

121 publications have been identified in PubMed for atypical progressive supranuclear palsy syndrome. Research spans Review / Meta-Analysis (34%), Diagnostic / Biomarker (26%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Research summaries	41	34%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 8:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99750

GARD

Genetic and Rare Diseases Info Center

GARD:4507

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Feature	Frequency of Feature	Comment
Behavioral changes	+++	Meeting criteria for bvFTD1
Parkinsonism	++	Parkinsonian features incl diagnosis of atypical parkinsonism syndromes (CBS2 or PSP3)
Language impairment	+	Most commonly semantic impairment (often co-occurring w/behavioral change) but non-fluent aphasia can occur in rare cases4
Memory impairment	+	Amnesic presentation can occur; memory problems can also co-occur w/behavioral change. +++ = most common, ++ = common, + = less common bvFTD = behavioral variant frontotemporal dementia; CBS = corticobasal syndrome; PSP = progressive supranuclear palsy 1. 2. 3. Age of onset.

GeneReviews

Differential Diagnosis

The clinical characteristics of MAPT-related frontotemporal dementia (MAPT-FTD) significantly overlap with those of other conditions, including FTD of unknown cause, genetic FTD (e.g., GRN- and C9orf72-related FTD), FTD spectrum disorders (e.g., corticobasal syndrome and progressive supranuclear palsy), as well as non-FTD spectrum disorders (Parkinson disease, Alzheimer disease, and Huntington disease). This clinical overlap makes it difficult to predict which family has MAPT-FTD by clinical presentation alone. Around 30% of individuals with FTD have familial FTD (i.e., a positive family history of dementia, usually with autosomal dominant inheritance). lists the most common genes associated with familial FTD. Note: On rare occasions individuals with MAPT-FTD may be seen initially by psychiatrists for mental health issues that resemble schizophrenia. However, schizophrenia typically initially manifests in the teenage years to age 30 years, while onset of MAPT-FTD is typically between ages 30 and 60 years. Table 3. Genes of Interest in the Differential Diagnosis of MAPT-Related Frontotemporal Dementia

Gene(s)	DiffDxDisorder	Clinical Features of DiffDx Disorder
Onset	Diseaseduration	Pathology
C9orf72-ALS/FTD	Mean: 58.2 yrs; range: 20-91 yrs1	Mean: 6.4 yrs; range: 0-36 yrs1
GRN-FTD	Mean: 61.3 yrs; range: 25-90 yrs1	Mean: 7.1 yrs; range: 0-27 yrs1

Source: GeneReviews — "MAPT-Related Frontotemporal Dementia"

System/Concern	Evaluation	Comment
Neurologic	Complete neurologic exam assessment of behavioral change	There are no validated rating scales for clinical use in FTD, but common scales used in research incl the CDR plus NACC FTLD1 the FTD Rating Scale.2
Cognitive function	Neuropsychologic exam	Evaluate extent profile of cognitive disturbance Musculoskeletal/ Activities of daily
living	Orthopedics/ physical medicine rehab/ PT eval	To incl assessment of:; Muscle tone; joint range of motion; posture; mobility; strength, coordination, endurance; pain; bedsores; Need for adaptive devices; Footwear needs; PT needs; Need for assistive walking devices (e.g., cane, walker, walker w/wheels, walker w/seat, wheelchair) OT eval
Psychiatric illness	History of psychiatric illness	Attention to possible alcohol or drug abuse Referral for psychiatric eval as needed
Dysarthria	For those w/dysarthria: speech/language eval	Referral for speech therapy as needed
Dysphagia	For those w/frequent choking or severe dysphagia, assess nutritional status aspiration risk.	Consider involving a gastroenterology/nutrition/feeding team, incl formal swallowing eval.
Genetic counseling	By genetics professionals3	To inform affected persons their families re nature, MOI, implications of MAPT-FTD to facilitate medical personal decision making Family support resources
MAPT-Related Frontotemporal Dementia: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other
Parkinsonism	PT, levodopa trial	Note: Because of psychiatric levodopa side effects, use only when functional impairment is significant.

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atypical progressive supranuclear palsy syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications

atypical progressive supranuclear palsy syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications