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BMJ Publishing Group, Journal of Neurology, Neurosurgery and Psychiatry, 5(85), p. 493-498, 2013

DOI: 10.1136/jnnp-2013-306483

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

Journal article published in 2013 by Yo-Tsen Liu, Joshua Hersheson, Vincent Plagnol ORCID, Katherine Fawcett, Kate E. C. Duberley, Elisavet Preza, Iain P. Hargreaves, Annapurna Chalasani, Matilde Laurá, Nick W. Wood ORCID, Mary Mm Reilly, Henry Houlden
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This paper is available in a repository.

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Abstract

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 deficiency. ADCK3 encodes a mitochondrial protein which functions as an electron-transfer membrane protein complex in the mitochondrial respiratory chain (MRC).