Ataxia, Spinocerebellar
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
The nine members of the CAG-polyglutamine disease family include spinal and bulbar muscular atrophy (SBMA), Huntington disease, dentatorubral pallidoluysian atrophy, and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17).
|
29325609 |
2018 |
Ataxia, Spinocerebellar
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Subclinical neuropathy is an important feature of spinocerebellar ataxias (SCA) but the true prevalence and electrophysiological characteristics in genetically proven patients of SCA 1, 2 and 3 are largely unknown.
|
21880333 |
2012 |
Ataxia, Spinocerebellar
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Since cerebellar ataxia is one of the main cardinal features, we performed FMR-1 premutation screening in 122 male patients, older than 50 years, who were referred to us for testing of the spinocerebellar ataxia (SCA 1, 2, 3, 6, 7) genes and who were found to be negative.
|
15483640 |
2005 |
Ataxia, Spinocerebellar
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant cerebellar ataxias are a clinical and genetically heterogeneous group of progressive neurodegenerative diseases, at present associated with 22 loci (spinocerebellar ataxia [SCA] 1-SCA8, SCA10-SCA19, SCA21, SCA22, fibroblast growth factor 14 [FGF14]-SCA, and dentatorubral-pallidoluysian atrophy [DRPLA]).
|
15148151 |
2004 |
Ataxia, Spinocerebellar
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Recently, the transglutaminase activity has been hypothesized to be involved in the pathogenetic mechanisms responsible for the formation of cellular inclusions present in Huntington disease and in all the other polyglutamine (polyQ) diseases hitherto identified, such as spinobulbar muscular atrophy or Kennedy disease, spinocerebellar ataxias (SCA-1, SCA-2, SCA-3 or Machado-Joseph disease, SCA-6 and SCA-7) and dentatorubropallidoluysian atrophy.
|
11719247 |
2002 |
Ataxia, Spinocerebellar
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
The Ataxia Molecular Diagnostics Testing Group was established to generate quantitative proficiency and outcomes data regarding molecular testing for the autosomal dominant cerebellar ataxias (spinocerebellar ataxia types 1 [SCA-1] through -3, -6, and -7, and dentatorubral-pallidoluysian atrophy) in North America.
|
11066010 |
2000 |
Ataxia, Spinocerebellar
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
We measured concentrations of phosphatidylcholine (PC), diacyl and plasmalogen phosphatidylethanolamine (PE), and phosphatidylserine (PS), along with their fatty acid profiles, in the brains of eight patients with Friedreich's ataxia (FA) and nine patients with dominantly inherited spinocerebellar atrophy type 1 (SCA-1).
|
9756151 |
1998 |