Primary muscle coenzyme Q10 (CoQ10) deficiency is an apparently autosomal recessive
condition with heterogeneous clinical presentations. Patients with these disorders improve …

APTX gene mutations responsible for ataxia–oculomotor apraxia 1 (AOA1) were identified in
a family previously reported with ataxia and coenzyme Q10 (CoQ10) deficiency. We …

Objective: To describe a clinical syndrome of cerebellar ataxia associated with muscle
coenzyme Q10 (CoQ10) deficiency. Background: Muscle CoQ10 deficiency has been …

Muscle coenzyme Q 10 (CoQ 10 or ubiquinone) deficiency has been identified in more than
20 patients with presumed autosomal-recessive ataxia. However, mutations in genes …

Inherited ataxias are a group of heterogeneous disorders in children or adults but their
genetic definition remains still undetermined in almost half of the patients. However, CoQ10 …

Ataxia with oculomotor apraxia type 4 (AOA4) is an autosomal recessive (AR) disorder
recently delineated in a Portuguese cohort and caused by mutations in the PNKP …

The authors measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135
patients with genetically undefined cerebellar ataxia. Thirteen patients with childhood-onset …

Ataxia with oculomotor apraxia type1 (AOA1, MIM 208920) is a rare autosomal recessive
disease caused by mutations in the APTX gene. We screened a cohort of 204 patients with …

Two brothers had late-onset progressive ataxia, cerebellar atrophy, and hypergonadotropic
hypogonadism associated with coenzyme Q10 (CoQ10) deficiency in skeletal muscle. Both …

Background Primary deficiency of coenzyme Q10 deficiency‐4 (COQ10D4) is an autosomal
recessive cerebellar ataxia with mitochondrial respiratory chain disfunction. The main …