Chinese Journal of Medical Genetics 2015;32(3):418-421

doi:10.3760/cma.j.issn.1003-9406.2015.03.026

Advance in genetic research on multiple system atrophy.

Xuan HOU 1 2 ; Hong JIANG

Affiliations

+expand

Country

China

Language

Chinese

Abstract

Multiple system atrophy (MSA) is a progressive neurodegenerative disorder. Widespread presence of glial cytoplasmic inclusions is the neuropathologic hallmark of MSA. The disease has long been considered as a sporadic disorder. However, in recent years, a few familial cases of MSA have been reported, and researches have verified certain genetic variants could increase the risk of MSA. These indicated genetic factors may play an imported role in the pathogenesis of MSA. In this review, the emerging evidence in favor of genetic players in MSA is discussed.