COQ8A ataxia
Evidence-based neurology checklist on coq8a ataxia: Genetics This is caused by mutations in the COQ8A gene on chromosome 1 The transmission is autosomal recessive Clinical features Magnetic resonance imaging (MRI) brain: features Muscle biopsy Treatment
Genetics
- This is caused by mutations in the COQ8A gene on chromosome 1
- The transmission is autosomal recessive
Clinical features
Magnetic resonance imaging (MRI) brain: features
Muscle biopsy
Treatment
References
- Traschütz A, Schirinzi T, Laugwitz L, et al Clinico-genetic, imaging and molecular delineation of COQ8A-ataxia: a multicenter study of 59 patients. Ann Neurol 2020 (online ahead of print).
- Galosi S, Barca E, Carrozzo R, et al. Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: a case series and literature review. Parkinsonism Relat Disord 2019; 68: 8-16.
- Traschütz A, Schirinzi T, Laugwitz L, et al. Clinico-genetic, imaging and molecular delineation of COQ8a-ataxia: a multicenter study of 59 patients. Ann Neurol 2020 (Online ahead of print).
- Jacobsen JC, Whitford W, Swan B, et al. Compound heterozygous inheritance of mutations in coenzyme Q8A results in autosomal recessive cerebellar ataxia and coenzyme Q10 deficiency in a female sib-pair. JIMD Rep 2018; 42:31-36.
- Lamperti C, Naini A, Hirano M, et al. Cerebellar ataxia and coenzyme Q10 deficiency. Neurology 2003; 60:1206-1208.
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- Abetalipoproteinaemia
- Gordon Holmes syndrome (GHS)
- Autosomal recessive spinocerebellar ataxias (SCAR)
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