spinocerebellaire ataxie type 10 (aandoening)
spinocerebellaire ataxie type 10
Spinocerebellar ataxia type 10
Main features described as slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. Prevalence is unknown. Many kindreds have been found in Mexican and Brazilian populations. Age of onset ranges from 18 to 45 years. Caused by an ATTCT pentanucleotide repeat expansion in intron 9 of the ATXN10 gene (22q13). Exact pathogenesis has not been determined but RNA processing may be involved.
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde vormen van hereditaire ataxie
SNOMED CT to Orphanet simple map98761
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.8
CorrelationSNOMED CT source code to target map code correlation not specified