Primary coenzyme Q (CoQ) deficiency syndromes
Evidence-based neurology checklist on primary coenzyme q (coq) deficiency syndromes: Classification Cerebellar form Isolate myopathy form Encephalomyopathic form Infantile variant Adult Leigh syndrome Cerebellar form: clinical features Isolated myopathy form: clinical features Isolated myopathy…
Classification
- Cerebellar form
- Isolate myopathy form
- Encephalomyopathic form
- Infantile variant
- Adult Leigh syndrome
Cerebellar form: clinical features
Isolated myopathy form: clinical features
Isolated myopathy form: investigations
Encephalomyopathic form: clinical features
Infantile variant: clinical features
Adult Leigh syndrome: clinical features
Acronym
References
- Horvath R, Schneiderat P, Schoser BG, et al. Coenzyme Q10 deficiency and isolated myopathy. Neurology 2006; 66:253-255.
- Lamperti C, Naini A, Hirano M, et al. Cerebellar ataxia and coenzyme Q10 deficiency. Neurology 2003; 60:1206-1208.
- Gironi M, Lamperti C, Nemni R, et al. Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. Neurology 2004; 62:818-820.
- Quinzii CM, Kattah AG, Naini A, et al. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 2005; 64:539-541.
- Pineda M, Montero R, Aracil A, et al. Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up. Mov Disord 2010; 25:1262-1268.
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