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Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc).

Molecular genetics and genomics : MGG - 22 Mar 2024

Ghodsinezhad Vadieh, Ghoreishi Abdoreza, Rohani Mohammad, Dadfar Mahdi, Mohammadzadeh Akbar, Rostami Ali, Rahimi Hamzeh

Abstract excerpt

Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder characterized by a variety of involuntary movements, predominantly chorea, and the presence of acanthocytosis in peripheral blood smears. ChAc is caused by mutations in the vacuolar protein sorting-associated protein 13A (VPS13A) gene. The aim of the present study was to conduct a clinical and genetic analysis of five patients...

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PMID: 38519717
DOI: 10.1007/s00438-024-02111-y

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