Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Synonyms: PSP-AOS · PSP-PNFA · Progressive supranuclear palsy-apraxia of speech syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by an initial presentation of an isolated speech and language disorder (apraxia of speech, agrammatism, and phonemic errors) years before developing other motor features of PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the temporal cortex and superior frontal gyrus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | PSP-AOS · PSP-PNFA · Progressive supranuclear palsy-apraxia of speech syndrome |
| fr | Syndrome de paralysie supranucléaire progressive-aphasie progressive non fluente | PSP-AOS · PSP-PNFA · Syndrome de paralysie supranucléaire progressive-apraxie verbale |
| de | Progressive supranukleäre Blickparese mit nicht-flüssiger progredienter Aphasie | PSP-AOS · PSP-PNFA · Progressive supranukleäre Blickparese mit Sprechapraxie |
| es | Síndrome de parálisis supranuclear progresiva-afasia progresiva no fluida | PSP-AOS · PSP-PNFA · Síndrome de parálisis supranuclear progresiva-apraxia del habla |
| it | Sindrome paralisi sopranucleare progressiva-afasia non fluente progressiva | PSP-AOS · PSP-PNFA · Sindrome paralisi sopranucleare progressiva-aprassia del linguaggio |
| nl | Progressieve supranucleaire paralyse - progressieve niet-vloeiende afasie-syndroom | PSP-AOS · PSP-PNFA · Progressieve supranucleaire paralyse - spraakapraxie-syndroom · Progressieve supranucleaire verlamming - progressieve niet-vloeiende afasie-syndroom |
| pt | Síndrome de paralisia supranuclear progressiva-afasia não fluente progressiva | |
| pl | Postępujące porażenie nadjądrowe - postępująca niepłynna afazja | Postępujące porażenie nadjądrowe - apraksja mowy · PSP-AOS · PSP-PNFA |
| cs | Syndrom zahrnující progresivní supranukleární obrnu a progresivní nonfluentní afázii | PSP-AOS · PSP-PNFA · Syndrom zahrnující progresivní supranukleární obrnu a apraxii řeči |
| uk | Синдром прогресуючого надядерного паралічу - прогресуючої невираженої афазії | Прогресуючий надядерний параліч-апраксія мовлення · PSP-AOS · PSP-PNFA |
| zh | 进行性核上性麻痹-非进行性流畅性失语综合征 | 进行性核上性麻痹-言语失用症综合征 |
| tr | İlerleyici supranükleer palsi-ilerleyici akıcı olmayan afazi sendromu | PSP-AOS · PSP-PNFA · İlerleyici supranükleer felç-konuşma apraksisi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260540 | NTBT | validated | |
| ICD-10 | G23.1 | NTBT | attributed | validated |
| ICD-11 | 8A00.10 | NTBT | index | validated |
| MONDO | 0016564 | E | validated | |
| UMLS | C5679850 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:99750Atypical progressive supranuclear palsy syndrome
rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAPT | Major susceptibility factor in | Assessed | HGNC:6893 | ENSG00000186868 | 157140 | 17q21.31 | microtubule associated protein tau |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
21 annotations · validated 2019-01-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0030784 | Anomia | |
| HP:0002549 | Deficit in phonologic short-term memory | |
| HP:0006977 | Grammar-specific speech disorder | |
| HP:0011098 | Speech apraxia | |
| HP:0030391 | Spoken Word Recognition Deficit | |
| HP:0025268 | Stuttering | |
| Frequent (79-30%) | ||
| HP:0031434 | Abnormal speech prosody | |
| HP:0000741 | Apathy | |
| HP:0001268 | Mental deterioration | |
| HP:0002465 | Poor speech | |
| HP:0009088 | Speech articulation difficulties | |
| Occasional (29-5%) | ||
| HP:0002381 | Aphasia | |
| HP:0002312 | Clumsiness | |
| HP:0002015 | Dysphagia | |
| HP:0002527 | Falls | |
| HP:0030217 | Limb apraxia | |
| HP:0001300 | Parkinsonism | |
| HP:0002172 | Postural instability | |
| HP:0007158 | Progressive extrapyramidal muscular rigidity | |
| HP:0000511 | Vertical supranuclear gaze palsy | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 28803444[PMID]_21614463[PMID]_18989114[PMID]_28653647[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/240112
- This record as JSON: /data/d/240112.json