Spinocerebellar ataxia type 17
Spinocerebellar ataxia type 17
Definition
A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.
Also known as cerebelloparenchymal disorder II, CPD2, HDL4, Huntington disease-like 4, olivopontocerebellar atrophy 5, olivopontocerebellar atrophy type 5, OPCA V, OPCA with dementia and extrapyramidal signs, SCA 17, SCA17, spinocerebellar ataxia 17, spinocerebellar ataxia type 17 — per MONDO
Also identified as
- DOID 0050967 per MONDO
- MESH C563505 per MONDO
- MESH C564616 per MONDO
- MESH C565866 per MONDO
- NCIT C179861 per MONDO
- OMIM 164700 per MONDO
- OMIM 213100 per MONDO
- OMIM 607136 per MONDO
- Orphanet 98759 per MONDO
- SCTID 719249005 per MONDO
- UMLS C1846707 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Central nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Central nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |