Ataxia with Oculomotor Apraxia Type 1 Associated with Mutation in the APTX Gene: A Case Study and Literature Review

Overview

Journal Exp Ther Med

Specialty Pathology

Date 2022 Nov 16

PMID 36382100

Authors

Raidah Albaradie

Alanoud Alharbi

Gada Alsaffar

Bayader Alhamad

Shahid Bashir

Affiliations

Soon will be listed here.

Abstract

Cerebellar ataxia is a disorder characterized by a broad spectrum of phenotypes. Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease presenting with early-onset and slowly progressing cerebellar ataxia, areflexia and peripheral axonal neuropathy. Mutations in the gene c.751C>T p.(His251Tyr) were detected with probable homozygosity in the gene (chromosome 9) that encodes a nuclear protein called aprataxin that is involved in DNA repair. AOA1 also contributes to neuronal development and function. Ocular apraxia is most prominent in the early stages of the disease, while hypoalbuminemia, hypercholesterolemia and cognitive impairment are common symptoms in the adult stage. The present study reported the clinical features of an 8-year-old female patient with mutations in the gene and discussed the differential diagnosis from other forms of hereditary ataxia.

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