Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.

ABSTRACT:

Objective

Recessive mutations in the CAPN1 gene have recently been identified in spastic paraplegia 76 (SPG76), a complex hereditary spastic paraplegia (HSP) that is combined with cerebellar ataxia, resulting in an ataxia-spasticity disease spectrum. This study aims to assess the influence of CAPN1 variants on the occurrence of SPG76 and identify factors potentially contributing to phenotypic heterogeneity.

Methods

We screened a cohort of 240 unrelated HSP families for variants in CAPN1 using high-throughput sequencing analysis. We described in detail the clinical and genetic features of the SPG76 patients in our cohort and summarized all reported cases.

Results

Six unreported CAPN1-associated families containing eight patients with or without cerebellar ataxia were f

SUBMITTER: Lai LL 

PROVIDER: S-EPMC7545613 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature