Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.

ABSTRACT:

Objectives

To investigate the clinical, electrophysiological, neuroimaging characteristics and genetic features of SPG5 in Taiwan.

Methods

Mutational analysis of the coding regions of CYP7B1 was performed by utilizing targeted resequencing analysis of the 187 unrelated Taiwanese HSP patients. The diagnosis of SPG5 was ascertained by the presence of biallelic CYP7B1 mutations. The SPG5 patients received clinical, electrophysiological, and neuroimaging evaluations. Disease severity was assessed by using the Spastic Paraplegia Rating Scale (SPRS) and the disability score. Two microsatellite markers as well as 18 single-nucleotide polymorphism (SNP) markers flanking CYP7B1 were genotyped to assess the founder effect of the CYP7B1 p.R112* mutation.

Results

Nineteen SPG5 pa

SUBMITTER: Chou CT 

PROVIDER: S-EPMC7187706 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature