Coenzyme Q10 Deficiency and Cerebellar Ataxia
نویسندگان
چکیده
Coenzyme Q10 (CoQ10) deficiency is an autosomal recessive disorder presenting five main phenotypes: an enchephalomyopathic form, a severe infantile neurological syndrome, a nephrotic form, a pure myopathic form and an ataxic form. The last one, the focus of this review, is the most common phenotype, characterized by childhood/ young adulthood-onset cerebellar ataxia and cerebellar atrophy as main neurological signs, and decreased CoQ10 levels in muscle (the hallmark of the disease), and sometimes in fibroblasts. Molecular defects have been described in two different genes: APTX and ADCK3. Early diagnosis is important because patients can benefit from CoQ10 supplementation.
منابع مشابه
Cerebellar ataxia and coenzyme Q10 deficiency.
The authors measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135 patients with genetically undefined cerebellar ataxia. Thirteen patients with childhood-onset ataxia and cerebellar atrophy had markedly decreased levels of CoQ10. Associated symptoms included seizures, developmental delay, mental retardation, and pyramidal signs. These findings confirm the existence of an ataxi...
متن کاملFamilial cerebellar ataxia with muscle coenzyme Q10 deficiency.
OBJECTIVE To describe a clinical syndrome of cerebellar ataxia associated with muscle coenzyme Q10 (CoQ10) deficiency. BACKGROUND Muscle CoQ10 deficiency has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent myoglobinuria; 2) brain involvement (seizures, ataxia, mental retardation), and 3) ragged-red fibers and lipid storage in the muscl...
متن کاملCerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation.
UNLABELLED Our aim was to report a new case with cerebellar ataxia associated with coenzyme Q10 (CoQ) deficiency, the biochemical findings caused by this deficiency and the response to CoQ supplementation. PATIENT A 12-year-old girl presenting ataxia and cerebellar atrophy. BIOCHEMICAL STUDIES: Coenzyme Q10 in muscle was analysed by HPLC with electrochemical detection and mitochondrial respir...
متن کاملCerebellar Ataxia and CoQ10 Deficiency.
In 2001, we described six patients with cerebellar ataxia and severe deficiency of coenzyme Q10 (CoQ10, ubiquinone) in skeletal muscle [1]. Within one year, we described 13 additional patients [2]; therefore, we suspected this was not a very rare syndrome. Twelve years after our original report, cerebellar ataxia and atrophy has emerged as the most common clinical presentation of CoQ10 deficien...
متن کاملPathomechanisms in coenzyme q10-deficient human fibroblasts.
Primary coenzyme Q10 (CoQ10) deficiency is a rare mitochondrial disorder associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) cerebellar ataxia, (4) isolated myopathy, and (5) steroid-resistant nephrotic syndrome. Growth retardation, deafness and hearing loss have also been described in CoQ10-deficient patients. This heterogeneity i...
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