The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.

ABSTRACT:

Objective

Hereditary spastic paraplegias (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders. We describe the genetic and clinical features of a cohort of five HSP families from central-southern China.

Methods

Using targeted exome-sequencing technology, we investigated the genetic and clinical features in five HSP families. We reviewed the clinical histories of these patients as well as the molecular and functional characterization of the associated gene variants. We also performed functional analysis of an intron variant of SPAST in vitro.

Results

We identified a known SPAST mutation (p.Pro435Leu) in a family with autosomal dominant HSP (AD-HSP) and four novel variants in two HSP families and a sporadic case. These identified four

SUBMITTER: Wang C 

PROVIDER: S-EPMC8172193 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature