SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene

• Published in: Acta neurologica Scandinavica Vol. 125; no. 2; pp. 116 - 122
• Main Authors: Koht, J., Stevanin, G., Durr, A., Mundwiller, E., Brice, A., Tallaksen, C. M. E.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.02.2012; Blackwell
• Subjects: Adolescent; Adult; Age; Aged; Aged, 80 and over; Ataxia; Biological and medical sciences; Cerebellar ataxia; Cerebellar Ataxia - genetics; Cerebellum; Chromosomes; Codons; DNA Mutational Analysis; Errors of metabolism; Female; gait; Genetic analysis; Genetic markers; Glutamine; Head; Histidine; Humans; Limbs; Lipids (lysosomal enzyme disorders, storage diseases); Male; Medical sciences; Metabolic diseases; Microsatellites; Middle Aged; Mutation; Mutation, Missense - genetics; Neurology; Norway; Polyglutamine; PRKCG; Protein Kinase C - genetics; SCA; SCA14; Spinocerebellar Ataxias; Spinocerebellar Degenerations - genetics; Transversion; tremor; Trinucleotide repeats; Young Adult; Norway; PRKCG; SCA; Nervous system diseases; Gene; SCA14; Cerebellar ataxia; Ataxia; Mutation

Koht J, Stevanin G, Durr A, Mundwiller E, Brice A, Tallaksen CME. SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. 
Acta Neurol Scand: 2012: 125: 116–122. 
© 2011 John Wiley & Sons A/S. Objectives –  Despite a similar prevalence of a...