Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 83, Issue 2, 2012, Pages 174-178

  Horvath, Rita ^a,b   Czermin, Birgit ^b   Gulati, Sweena ^a   Demuth, Stephanie ^c   Houge, Gunnar ^d   Pyle, Angela ^a   Dineiger, Christine ^b   Blakely, Emma L ^a   Hassani, Adam ^a   Foley, Charlotte ^a   Brodhun, Michael ^e   Storm, Karin ^f   Kirschner, Janbernd ^f   Gorman, Grainne S ^a   Lochmüller, Hanns ^a   Holinski Feder, Elke ^b   Taylor, Robert W ^a   Chinnery, Patrick F ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b Medical Genetic Center   (Germany)

^c Human Genetic Laboratory   (Germany)

^d HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^e HELIOS KLINIKUM ERFURT   (Germany)

^f UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; UBIDECARENONE;

ADCK3 GENE; ADOLESCENT; ADULT; ARTICLE; CABC1 GENE; CEREBELLAR ATAXIA; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; DISEASE SEVERITY; DYSTONIA; EPILEPSY; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; LIPID STORAGE; MIGRAINE; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE DISEASE; PHENOTYPE; PRIORITY JOURNAL; SPASTICITY; SUPPLEMENTATION; TREMOR;

ADOLESCENT; ADULT; AGE OF ONSET; BIOPSY; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL PROTEINS; MUSCLE, SKELETAL; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SPINOCEREBELLAR DEGENERATIONS; UBIQUINONE; YOUNG ADULT;

EID: 84855616355     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2011-301258     Document Type: Article

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