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Autosomal recessive spinocerebellar ataxia type 4 due to a novel homozygous mutation in the VPS13D gene in a Saudi family.

Clinical neurology and neurosurgery - 1 May 2024

Algahtani Hussein, Shirah Bader, Naseer Muhammad Imran

Abstract excerpt

Vacuolar protein sorting 13 homolog D (VPS13D) gene encodes a protein involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. This study reports a novel homozygous mutation (c.12494T>C p.Ile4165Thr) in the VPS13D gene in a Saudi female diagnosed with autosomal recessive spinocerebellar ataxia type 4 (SCAR4). The patient's clinical presentation, including...

Topics

Humans
Female
Saudi Arabia
Spinocerebellar Ataxias
Mutation
Vesicular Transport Proteins
Homozygote
Adult
Pedigree
Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38569247
DOI: 10.1016/j.clineuro.2024.108271

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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