Hypotonia and Infantile Spasms: A New Phenotype of Coenzyme Q10 Deficiency?
نویسندگان
چکیده
منابع مشابه
Coenzyme Q10 Deficiency and Cerebellar Ataxia
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 ma...
متن کاملCerebellar 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 کاملBiochemical Assessment of Coenzyme Q10 Deficiency
Coenzyme Q10 (CoQ10) deficiency syndrome includes clinically heterogeneous mitochondrial diseases that show a variety of severe and debilitating symptoms. A multiprotein complex encoded by nuclear genes carries out CoQ10 biosynthesis. Mutations in any of these genes are responsible for the primary CoQ10 deficiency, but there are also different conditions that induce secondary CoQ10 deficiency i...
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...
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Donnino and colleagues provide new insights into the field of oxidative stress and mitochondrial dysfunction during septic shock. These authors suggest a coenzyme Q10 (CoQ10) deficiency in patients with septic shock. Larger prospective observational trials measuring CoQ10 in patients with septic shock are required to confirm the possibility of CoQ10 depletion. This study is a new step toward a ...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2009
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100006429