Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia
Mutations in the PUM1 gene were recently identified to cause spinocerebellar ataxia type 47 (SCA47). However, their role in cerebellar ataxia in various populations remains elusive. The aim of this study was to elucidate the frequency and spectrum of PUM1 mutations in a cohort of Taiwanese patients with molecularly undetermined cerebellar ataxia.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Kuan-Lin Lai, Yi-Chu Liao, Pei-Chien Tsai, Cheng-Tsung Hsiao, Bing-Wen Soong, Yi-Chung Lee Tags: Short communication Source Type: research