Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.

ABSTRACT:

Objective

Hereditary spastic paraplegias (HSPs) are a group of inherited neurodegenerative disorders characterized by slowly progressive lower limb spasticity and weakness. HSP type 54 (SPG54) is autosomal recessively inherited and caused by mutations in the DDHD2 gene. This study investigated the clinical characteristics and molecular features of DDHD2 mutations in a cohort of Taiwanese patients with HSP.

Methods

Mutational analysis of DDHD2 was performed for 242 unrelated Taiwanese patients with HSP. The clinical, neuroimaging, and genetic features of the patients with biallelic DDHD2 mutations were characterized. A cell-based study was performed to assess the effects of the DDHD2 mutations on protein expression.

Results

SPG54 was diagnosed in three patients. Among

SUBMITTER: Chou YT 

PROVIDER: S-EPMC10502669 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature