A Case of Genetically Confirmed Spinocerebellar Ataxia Type 8
2008; Korean Movement Disorders Society; Volume: 1; Issue: 2 Linguagem: Inglês
10.14802/jmd.08017
ISSN2093-4939
AutoresGyoungim Suh, Won Chan Kim, Myung Sik Lee,
Tópico(s)Ubiquitin and proteasome pathways
ResumoSp inocerebe llar a taxia type 8 patients typ ica lly have a s low ly progress ive, adu lt-onset ataxia. SCA8 is characterized by relative ly pure cerebellar ataxia, which is caused by the expansion of combined CTA/CTG repeats on chromosome 13q21. W e report a 58 years o ld woman w ith s low ly progressive dysarthria, and gait ataxia. W e perform ed genetic stud ies for SCA1,2 ,3 ,6 ,7 ,8 ,17 and detected CTA/CTG repeat expans ion in the SCA8 gene. Journal of Movement Disorders 1(2):90-92, 2008
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