SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene - Koht, J.; Stevanin, G.; Durr, A.; Mundwiller, E.; Brice, A.; Tallaksen, C. M. E. (Acta neurologica Scandinavica, 2012)
Keywords: 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