Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:abbreviation |
Spinocerebellar ataxia type 6
|
| gptkbp:affectedArea |
gptkb:cerebellum
|
| gptkbp:associatedWith |
gptkb:CACNA1A
|
| gptkbp:diseaseCategory |
neurodegenerative disease
genetic disorder |
| gptkbp:firstDescribed |
1997
|
| gptkbp:fullName |
Spinocerebellar ataxia type 6
|
| https://www.w3.org/2000/01/rdf-schema#label |
SCA6
|
| gptkbp:ICD-10_code |
G11.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
CAG trinucleotide repeat expansion
|
| gptkbp:OMIM |
183086
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:progression |
slowly progressive
|
| gptkbp:symptom |
nystagmus
ataxia gait disturbance dysarthria |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Spinocerebellar_Ataxia
|
| gptkbp:bfsLayer |
7
|