Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

@inproceedings{Liu2014AutosomalrecessiveCA,
  title={Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation},
  author={Y. Liu and Joshua S Hersheson and Vincent Plagnol and Katherine A. Fawcett and Kate E. C. Duberley and Elisavet Preza and Iain P. Hargreaves and Annapurna Chalasani and M. Bellis Laura and Nick W. Wood and Mary M Reilly and Henry Houlden},
  booktitle={Journal of neurology, neurosurgery, and psychiatry},
  year={2014}
}
BACKGROUND The autosomal-recessive cerebellar ataxias (ARCA) are a clinically and genetically heterogeneous group of neurodegenerative disorders. The large number of ARCA genes leads to delay and difficulties obtaining an exact diagnosis in many patients and families. Ubiquinone (CoQ10) deficiency is one of the potentially treatable causes of ARCAs as some patients respond to CoQ10 supplementation. The AarF domain containing kinase 3 gene (ADCK3) is one of several genes associated with CoQ10… CONTINUE READING
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