COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration
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Ataxia is a clinical feature of hundreds of disorders, and even pure cerebellar ataxia without other symptoms can be caused by mutations in at least 40 dominant  and 45 recessive genes . Whole-exome and whole-genome sequencing has recently allowed the identification of novel genes involved in numerous rare Mendelian disorders including ataxia, but many cases of isolated or recessive ataxia still remain unexplained [3, 4]. When there are two or more affected individuals from a consanguineous mating, gene identification using homozygosity mapping is an efficient way to identify new genes for rare disorders [5, 6]. In rare cases, gene identification can lead to personalized therapy, as exemplified here.
Patients and Methods
We thank Linda Gates for the excellent technical assistance and NS078560 for the funding.
Compliance with Ethical Standards
The local study protocol was approved by the Ethics Committee at Erciyes University, Kayseri, Turkey. The genetic study has been reviewed and approved by the University of Michigan institutional review board.
Conflict of Interest
The authors declare that they have no conflicts of interest.