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Autosomal recessive ataxia due to ubiquinone deficiency
This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.
ORPHA:139485Classification level: Disorder
- Autosomal recessive ataxia due to coenzyme Q10 deficiency
- Autosomal recessive cerebellar ataxia type 2
- Autosomal recessive spinocerebellar ataxia type 9
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood
- ICD-10: G11.1
- OMIM: 612016
- UMLS: C2677589
- MeSH: -
- GARD: 10294
- MedDRA: -
Prevalence is unknown.
Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present.
The syndrome is caused by ubiquinone deficiency. Mutations in the ADCK3/CABC1 gene have been detected in affected individuals. This gene is already known to play a role in ubiquinone biosynthesis in yeast.
The syndrome is transmitted as an autosomal recessive trait.
- Clinical genetics review
- English (2017)