|
gptkbp:instanceOf
|
gptkb: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
|
gptkb:genetic_disorder
gptkb: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
|
|
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
|
gptkb:neurodegenerative_disease
ataxia
tremor disorder
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:riskFactor
|
male sex
age over 50
|
|
gptkbp:symptom
|
gptkb:peripheral_neuropathy
cognitive decline
tremor
autonomic dysfunction
ataxia
parkinsonism
|
|
gptkbp:treatment
|
symptomatic management
|
|
gptkbp:bfsParent
|
gptkb:CGG
gptkb:fragile_X-associated_tremor/ataxia_syndrome
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
FXTAS
|