Spinocerebellar ataxia type 6: Frequency of the mutation and genotype-phenotype correlations

摘要: Spinocerebellar ataxia type 6 (SCA6) is the most recently identified mutation causing autosomal-dominant cerebellar without retinal degeneration (ADCA). The SCA6 allelic with episodic 2 (EA-2), but two differ clinically because of presence progressive, rather than episodic, in SCA6. accounts for 12% families ADCA an ethnically heterogeneous population patients. Clinical examination, quantitative eye movement testing, and imaging data show that brainstem normal patients SCA6, especially within first 10 years symptoms. Most progressive from onset, several course resembling EA-2. Thus, mutations not only account I III phenotypes also some presenting features are typical Interestingly, a compound heterozygote expansion manifested earlier onset more rapid family members same larger expanded allele.