Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound Heterozygosity.

ABSTRACT:

Background

Spastic Paraplegia Type 78 (SPG78) is a rare form of hereditary spastic paraplegia (HSP), mainly characterized by late-onset lower-limb spasticity, muscle weakness, and in some cases cerebellar dysfunction and cognitive impairment. Understanding its genetic background is essential to distinguish it from other autosomal recessive types of HSP.

Methods

A pathogenic variant screening in a Spanish HSP patient was carried out by whole-exome sequencing, followed by a software filtering process and validation of candidate variants by Sanger sequencing. The pathogenicity of the selected variants was evaluated by In Silico predictions and a segregation analysis including the proband and 16 family members.

Results

Two variants in the ATP13A2 gene, predicted to have d

SUBMITTER: Ramirez RB 

PROVIDER: S-EPMC11814479 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature