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

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 85, Issue 5, 2014, Pages 493-498

  Liu, Yo Tsen ^a,b,c   Hersheson, Joshua ^a   Plagnol, Vincent ^d   Fawcett, Katherine ^a   Duberley, Kate E C ^a   Preza, Elisavet ^a   Hargreaves, Iain P ^a   Chalasani, Annapurna ^a   Laurá, Matilde ^a   Wood, Nick W ^a   Reilly, Mary M ^a   Houlden, Henry ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^c NATIONAL YANG MING UNIVERSITY   (Taiwan)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CELL ENZYME; CITRATE SYNTHASE; CYTOCHROME C OXIDASE; UBIDECARENONE;

ADCK3 GENE; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA; BLOOD LEVEL; CEREBELLAR ATAXIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COENZYME Q10 DEFICIENCY; CONTROLLED STUDY; DIET SUPPLEMENTATION; DISEASE ACTIVITY; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME ASSAY; EXOME; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMAGE ANALYSIS; MALE; MEDICAL HISTORY; METABOLIC DISORDER; MITOCHONDRIAL ENERGY TRANSFER; MITOCHONDRIAL RESPIRATORY CHAIN; MOLECULAR PATHOLOGY; MYOCLONUS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OUTCOME ASSESSMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN; SCHOOL CHILD; SEQUENCE ANALYSIS; STOP CODON;

CEREBELLAR ATAXIA; MITOCHONDRIAL DISORDERS; MOVEMENT DISORDERS; MYOCLONUS; NEUROGENETICS;

ADULT; CEREBELLAR ATAXIA; CONSANGUINITY; FEMALE; FRAMESHIFT MUTATION; HUMANS; MITOCHONDRIAL PROTEINS; PEDIGREE; PROTEIN KINASES; UBIQUINONE;

EID: 84898869310     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-306483     Document Type: Article

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