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).
Spinocerebellar ataxia type 10.
Gainesville, United States. In Handb Clin Neurol, 2011
The expansion of the attct repeat in intron 9 of atxn10 is may caused Spinocerebellar ataxia type 10.
CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders.
Poznań, Poland. In Rna Biol, 2011
This mechanism has been best characterized in the non-coding repeat disorder DM1 and is also implicated in several other diseases, such as FXTAS, spinocerebellar ataxia type 8 (SCA8), Huntington's disease-like 2 (HDL2), as well as in myotonic dystrophy type 2 (DM2), spinocerebellar ataxia type 10 (SCA10) and type 31 (SCA31).
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.
Johnson City, United States. In Orphanet J Rare Dis, 2010
To date, 21 subtypes have been identified: SCA1-SCA4, SCA8, SCA10, SCA12-SCA14, SCA15/16, SCA17-SCA23, SCA25, SCA27, SCA28 and dentatorubral pallidoluysian atrophy (DRPLA).
RNA-mediated neuromuscular disorders.
Minneapolis, United States. In Annu Rev Neurosci, 2005
This review discusses RNA pathogenesis in DM1 and DM2 and evidence that similar mechanisms may play a role in a growing number of dominant noncoding expansion disorders, including fragile X tremor ataxia syndrome (FXTAS), spinocerebellar ataxia type 8 (SCA8), SCA10, SCA12, and Huntington's disease-like 2 (HDL2).