Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review

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 APTX gene c.751C>T p.(His251Tyr) were detected with probable homozygosity in the APTX 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 APTX gene and discussed the differential diagnosis from other forms of hereditary ataxia.

Childhood-Onset Ataxia

“…Both recessive conditions manifest as the main clinical features of ataxia and oculomotor apraxia. AOA1 is caused by mutations in the APTX gene which encodes a nuclear protein called aprataxin that is involved in DNA repair [62]. Ataxia usually begins during the first decade of life and is often associated with neuropathy, chorea, nystagmus, and oculomotor apraxia [62].…”

“…AOA1 is caused by mutations in the APTX gene which encodes a nuclear protein called aprataxin that is involved in DNA repair [62]. Ataxia usually begins during the first decade of life and is often associated with neuropathy, chorea, nystagmus, and oculomotor apraxia [62]. AOA1 patients do not have extra neurological manifestations.…”