Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

• Published in: American journal of human genetics Vol. 89; no. 1; pp. 121 - 130
• Main Authors: Kobayashi, Hatasu, Abe, Koji, Matsuura, Tohru, Ikeda, Yoshio, Hitomi, Toshiaki, Akechi, Yuji, Habu, Toshiyuki, Liu, Wanyang, Okuda, Hiroko, Koizumi, Akio
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 15.07.2011; Cell Press; Elsevier
• Subjects: Adult; Age of Onset; Aged; Alzheimer Disease - genetics; Alzheimer's disease; Amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis - genetics; Biological and medical sciences; Cohort Studies; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Enkephalins - genetics; Enkephalins - metabolism; Family studies; Female; Fluorescence in situ hybridization; Fundamental and applied biological sciences. Psychology; Gene mapping; General aspects. Genetic counseling; Genetic analysis; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Haplotypes; Humans; In Situ Hybridization, Fluorescence; Introns - genetics; Linkage analysis; Lod Score; Male; Medical genetics; Medical sciences; Medical screening; MicroRNAs - genetics; MicroRNAs - metabolism; Middle Aged; miRNA; Molecular and cellular biology; Motor neurons; Motor Neurons - pathology; Mutation; Mutation, Missense; Neurodegenerative diseases; Neurological disorders; Neurology; Nuclear Proteins - genetics; Nuclear Proteins - metabolism; Open reading frames; Pedigree; Protein Precursors - genetics; Protein Precursors - metabolism; RNA; RNA-binding protein; Spinocerebellar Ataxias - classification; Spinocerebellar Ataxias - genetics; Spinocerebellar Ataxias - pathology; Transcription; Human; Nervous system diseases; Repeated sequence; Spinocerebellar ataxia; Central nervous system disease; Genetics; Degenerative disease; Motor neuron; Expansion; Genetic disease

Autosomal-dominant spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders. In this study, we performed genetic analysis of a unique form of SCA (SCA36) that is accompanied by motor neuron involvement. Genome-wide linkage analysis and subsequent fine mapping for three...