The importance of deep exploration into clinical heterogeneity of spinocerebellar ataxia type 3

摘要

Spinocerebellar ataxia type 3 (SCA3) is regarded as the most variable subtypes among spinocerebellar ataxias (SCAs), and our previous paper further ascertains this perspective. The full understanding of rare representations in SCA3 facilitates the timely diagnosis of patients. Moreover, the detections of the certain modifier genes make for the new insights into the clinical spectrum of SCA3. ? 2012 Elsevier B.V. All rights reserved.