Progressive supranuclear palsy-corticobasal syndrome
Synonyms: PSP-CBS · PSP-corticobasal 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 a variable mixture of progressive asymmetric limb rigidity, apraxia, cortical sensory loss, alien limb, dystonia and bradykinesia that is unresponsive to levodopa. Postural instability and axial rigidity develop as the disease progresses. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the midfrontal and inferior parietal cortices.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive supranuclear palsy-corticobasal syndrome | PSP-CBS · PSP-corticobasal syndrome |
| fr | Syndrome de paralysie supranucléaire progressive-syndrome corticobasal | PSP-CBS · PSP-syndrome cortico-basal · PSP-syndrome corticobasal |
| de | Progressive supranukleäre Blickparese - kortikobasales Syndrom | PSP-CBS · PSP-kortikobasales Syndrom |
| es | Parálisis supranuclear progresiva-síndrome corticobasal | PSP-CBS · PSP-síndrome corticobasal |
| it | Paralisi sopranucleare progressiva - sindrome corticobasale | PSP-CBS · PSP-sindrome corticobasale |
| nl | Progressieve supranucleaire paralyse - corticobasaal syndroom | PSP - corticobasaal syndroom · PSP-CBS · Progressieve supranucleaire verlamming - corticobasaal syndroom |
| pt | Paralisia supranuclear progressiva-síndrome corticobasal | |
| pl | Postępujące porażenie nadjądrowe - zespół korowo-podstawny | PSP-CBS · PSP-zespół korowo-podstawny |
| cs | Progresivní supranukleární obrna s kortikobazálním syndromem | PSP-CBS · PSP s kortikobazálním syndromem |
| uk | Прогресуючий надядерний параліч-кортикобазальний синдром | PSP-CBS · PSP-кортикобазальний синдром |
| zh | 进行性核上性麻痹-皮质基底节综合征 | PSP-皮质基底节综合征 |
| tr | İlerleyici supranükleer palsi-kortikobazal sendrom | PSP-CBS · PSP-kortikobazal sendrom |
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 | 0016563 | E | validated | |
| UMLS | C5548189 | 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.6 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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
30 annotations · validated 2019-01-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002067 | Bradykinesia | |
| Very frequent (99-80%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002186 | Apraxia | |
| HP:0004373 | Focal dystonia | |
| HP:0030217 | Limb apraxia | |
| HP:0002172 | Postural instability | |
| HP:0000514 | Slow saccadic eye movements | |
| Frequent (79-30%) | ||
| HP:0000570 | Abnormal saccadic eye movements | |
| HP:0002381 | Aphasia | |
| HP:0002374 | Diminished movement | |
| HP:0001260 | Dysarthria | |
| HP:0002359 | Frequent falls | |
| HP:0001188 | Hand clenching | |
| HP:0004305 | Involuntary movements | |
| HP:0045084 | Limb myoclonus | |
| HP:0002354 | Memory impairment | |
| HP:0001268 | Mental deterioration | |
| HP:0007158 | Progressive extrapyramidal muscular rigidity | |
| HP:0002063 | Rigidity | |
| HP:0007885 | Slowed horizontal saccades | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0001337 | Tremor | |
| HP:0000511 | Vertical supranuclear gaze palsy | |
| Occasional (29-5%) | ||
| HP:0002015 | Dysphagia | |
| HP:0006961 | Jerky head movements | |
| HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | |
| HP:0000751 | Personality changes | |
| HP:0009088 | Speech articulation difficulties | |
| Very rare (<4-1%) | ||
| HP:0002098 | Respiratory distress | |
| Excluded (0%) | ||
| HP:0000743 | Frontal release signs | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 30252354[PMID]_28467028[PMID]_15834857[PMID]_23432126[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/240103
- This record as JSON: /data/d/240103.json