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COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration

  • Ahmet Okay Caglayan
  • Hakan Gumus
  • Erin Sandford
  • Thomas L. Kubisiak
  • Qianyi Ma
  • A. Bilge Ozel
  • Huseyin Per
  • Jun Z. Li
  • Vikram G. Shakkottai
  • Margit BurmeisterEmail author
Letter to the Editor
  • 49 Downloads

Introduction

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 [1] and 45 recessive genes [2]. 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

Patients

The index case is a 26-year-old male with slowly progressive ataxia and spasticity. His parents are first cousins. The proband had walking difficulty at the age of 8, followed by partial epilepsy 4 years later and lost the ability to...

Notes

Acknowledgements

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.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Ahmet Okay Caglayan
    • 1
  • Hakan Gumus
    • 2
  • Erin Sandford
    • 3
  • Thomas L. Kubisiak
    • 3
  • Qianyi Ma
    • 4
  • A. Bilge Ozel
    • 4
  • Huseyin Per
    • 2
  • Jun Z. Li
    • 4
  • Vikram G. Shakkottai
    • 5
  • Margit Burmeister
    • 3
    • 4
    Email author
  1. 1.Department of Medical Genetics, School of MedicineDemiroglu Bilim UniversityIstanbulTurkey
  2. 2.Division of Pediatric Neurology, Department of Pediatrics, School of MedicineErciyes UniversityKayseriTurkey
  3. 3.Molecular & Behavioral Neuroscience InstituteUniversity of MichiganAnn ArborUSA
  4. 4.Departments of Computational Medicine & Bioinformatics, Psychiatry and Human GeneticsUniversity of MichiganAnn ArborUSA
  5. 5.Department of Neurology, Molecular and Integrative PhysiologyUniversity of MichiganAnn ArborUSA

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