spinocerebellaire ataxie type 28 (aandoening)
spinocerebellaire ataxie type 28
Spinocerebellar ataxia type 28
Spinocerebellar ataxia type 28 (SCA28) is very rare with main features of juvenile onset and slowly progressive cerebellar ataxia due to Purkinje cell degeneration. The mean age of symptom onset was 19.5 years in the original kindred. Some patients show cognitive impairment. In more advanced stages of the disorder, ophthalmoparesis, slowed saccades, ptosis and pyramidal signs are reported. SCA28 is caused by mutations in the AFG3L2 gene located to chromosome 18p11.21. Inherited autosomal dominantly.
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 map101109
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.8
CorrelationSNOMED CT source code to target map code correlation not specified