Statements (37)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
neurodegenerative disease
|
| gptkbp:abbreviation |
Fragile X-associated tremor/ataxia syndrome
|
| gptkbp:affects |
older adult females
older adult males |
| gptkbp:associatedWith |
gptkb:Fragile_X_syndrome
gptkb:FMR1 |
| gptkbp:category |
genetic disorder
movement disorder neurogenetic disorder |
| gptkbp:causedBy |
FMR1 gene premutation
|
| gptkbp:diagnosedBy |
genetic testing
MRI brain imaging |
| gptkbp:firstDescribed |
2001
|
| gptkbp:fullName |
Fragile X-associated tremor/ataxia syndrome
|
| https://www.w3.org/2000/01/rdf-schema#label |
FXTAS
|
| gptkbp:ICD-10_code |
G31.8
|
| gptkbp:inheritance |
X-linked dominant
|
| gptkbp:MeSH_ID |
D054556
|
| gptkbp:MRI_finding |
white matter lesions in middle cerebellar peduncles
|
| gptkbp:mutationAssociatedWith |
CGG trinucleotide repeat expansion
|
| gptkbp:OMIM |
300623
|
| gptkbp:parent |
neurodegenerative disease
ataxia tremor disorder |
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
male sex
age over 50 |
| gptkbp:symptom |
cognitive decline
tremor peripheral neuropathy autonomic dysfunction ataxia parkinsonism |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:CGG
gptkb:fragile_X-associated_tremor/ataxia_syndrome |
| gptkbp:bfsLayer |
8
|