'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type of spinocerebellar ataxia with motor neuron signs. It is caused by a GGCCTG repeat expansion in intron 1 of NOP56. Family interview and document research allowed us to reconstruct two extensive, multigenerationa...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2012-05, Vol.135 (Pt 5), p.1423-1435
Hauptverfasser:	GARCIA-MURIAS, María, QUINTANS, Beatriz, DAPENA, Dolores, MOREIRA, Ramon, RODRIGUEZ-TRELLES, Francisco, SEQUEIROS, Jorge, CARRACEDO, Angel, SILVEIRA, Isabel, SOBRIDO, María J, ARIAS, Manuel, SEIXAS, Ana I, CACHEIRO, Pilar, TARRIO, Rosa, PARDO, Julio, MILLAN, María J, ARIAS-RIVAS, Susana, BLANCO-ARIAS, Patricia
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Factors Aged Aged, 80 and over Amyotrophic lateral sclerosis Atrophy Biological and medical sciences Brain - pathology Cerebellum chromosome 20 Chromosomes, Human, Pair 20 - genetics Computed tomography Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Denervation Disease Progression DNA Mutational Analysis Emigration Eye Family Health Female Genetic Linkage Genotype Haplotypes Hearing loss Humans Introns Introns - genetics Magnetic Resonance Imaging Male Medical sciences Middle Aged Motor neurons Mutation Neurology Neurotransmission Nuclear Proteins - genetics Original Spain - epidemiology Spinocerebellar Ataxias - genetics Spinocerebellar Ataxias - pathology Spinocerebellar Ataxias - physiopathology Tongue Trinucleotide Repeat Expansion - genetics
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