Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.
Caracas, Venezuela. In J Hum Genet, Dec 2015
In Venezuela, genetic epidemiological features of SCAs have been assessed during the last 30 years; mutations in ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN7 (SCA7), ATXN8 (SCA8), ATXN10 (SCA10), TBP (SCA17) and ATN1 (dentatorubral pallidoluysian atrophy, DRPLA) loci were searched among 115 independent families.
Central auditory processing in patients with spinocerebellar ataxia.
Curitiba, Brazil. In Hear Res, Sep 2015
In the audiometric test, 14/43 patients (32.5%) presented alterations, including 4/12 patients with SCA3 (33.3%), 1/8 patients with SCA2 (12.5%), 1/1 patient with SCA4 (100%), 1/1 patient with SCA6 (100%), 1/1 patient with SCA7 (100%), 3/6 patients with SCA10 (50%), and 3/14 patients with an undetermined type of SCA (21.4%).
Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor.
New York City, United States. In Parkinsonism Relat Disord, Aug 2015
These genes were spinocerebellar ataxia (SCA)-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and dentatorubral-pallidolysian atrophy (DRPLA) (ATN1).
From mice to men: lessons from mutant ataxic mice.
Plzeň, Czech Republic. In Cerebellum Ataxias, 2013
Lurcher, Hot-foot, Purkinje cell degeneration, Nervous, Staggerer, Weaver, Reeler, and Scrambler mouse models and mouse models of SCA1, SCA2, SCA3, SCA6, SCA7, SCA23, DRPLA, Niemann-Pick disease and Friedreich ataxia are reviewed with special regard to cerebellar pathology, pathogenesis, functional changes and possible therapeutic influences, if any.
Brain pathology of spinocerebellar ataxias.
Frankfurt am Main, Germany. In Acta Neuropathol, 2012
SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17) and that the patterns of brain damage in these diseases overlap considerably in patients suffering from advanced disease stages.
Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network.
Tokyo, Japan. In Hum Mol Genet, 2012
ATXN7 distribution frequently shifts from the nucleus to the cytoplasm; cytoplasmic ATXN7 associates with microtubules (MTs); expression of ATXN7 stabilizes MTs; findings provide a novel physiological function of ATXN7 in regulation of cytoskeletal dynamics and suggest that abnormal cytoskeletal regulation may contribute to SCA7 disease pathology
Spinocerebellar ataxia type 7.
Antwerp, Belgium. In Handb Clin Neurol, 2011
The Trinucleotide Repeat Expansion mutation in ATXN7 related to Spinocerebellar ataxia type 7.
Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.
Minneapolis, United States. In Nat Genet, 1998
The involvement of trinucleotide repeat expansions in a number of other diseases--including familial spastic paraplegia, schizophrenia, bipolar affective disorder and spinocerebellar ataxia type 7 (SCA7; ref. 10)--is suggested both by the presence of anticipation and by repeat expansion detection (RED) analysis of genomic DNA samples.