Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases

Mutations in CAPN1 have recently been reported to cause the spastic paraplegia 76 (SPG76) subtype of hereditary spastic paraplegia (HSP). To investigate the role of CAPN1 in spastic paraplegia and other neurodegenerative diseases, including spinocerebellar ataxia (SCA), early-onset Parkinson's disease (EOPD), and amyotrophic lateral sclerosis (ALS) we conducted a mutation analysis of CAPN1 in a cohort of Chinese patients with SPG, SCA, EOPD, and ALS.

Source: Journal of the Neurological Sciences - January 17, 2020 Category: Neurology Authors: Zheng-cai Xia, Zhen-hua Liu, Xiao-xia Zhou, Zhen Liu, Jun-ling Wang, Zheng-mao Hu, Jie-qiong Tan, Lu Shen, Hong Jiang, Bei-sha Tang, Li-fang Lei Source Type: research