Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
Nine hereditary neurodegenerative diseases are known as polyglutamine diseases, including Huntington disease, 6 spinocerebellar ataxias (SCAs) (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17), dentatorubral-pallidoluysion atrophy, and spinal bulbar muscular atrophy.
|
30933216 |
2019 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
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).
|
26077168 |
2015 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
This study describes the frequency of spinocerebellar ataxias and of CAG repeats range in different geographical regions of Brazil, and explores the hypothetical role of normal CAG repeats at ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7 genes on age at onset and on neurological findings.
|
23943520 |
2014 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
CTD_human |
Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.
|
25664129 |
2014 |
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The spinocerebellar ataxias type 1 (SCA1), 2 (SCA2), 3 (SCA3), 6 (SCA6) and 7 (SCA7) are genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs).
|
23438480 |
2013 |
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A total of 184 individuals were eligible for presymptomatic testing due to a risk for spinocerebellar ataxia (SCA) - SCA3 (80%), Huntington's disease (11.9%), familial amyloidotic neuropathy (4.3%), SCA1, SCA2, SCA6, or SCA7.
|
21717286 |
2012 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxias 6 and 7 (SCA6 and SCA7) are neurodegenerative disorders caused by expansion of CAG repeats encoding polyglutamine (polyQ) tracts in CACNA1A, the alpha1A subunit of the P/Q-type calcium channel, and ataxin-7 (ATXN7), a component of a chromatin-remodeling complex, respectively.
|
21078624 |
2011 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
Patients with progressive cerebellar dysfunction of autosomal dominant transmission underwent a clinical examination protocol and genetic testing for spinocerebellar ataxia (SCA)1 to Machado-Joseph disease (MJD)/SCA3, SCA6, SCA7, SCA10, SCA12, SCA17 and dentatorubral-pallidoluysian atrophy (DRPLA).
|
19659750 |
2010 |
Ataxia, Spinocerebellar
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we identified expanded CAG-repeats in the SCA7 gene within members of a large Chinese family with spinocerebellar ataxia.
|
18325672 |
2008 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
LHGDN |
In conclusion, we identified expanded CAG-repeats in the SCA7 gene within members of a large Chinese family with spinocerebellar ataxia.
|
18325672 |
2008 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
LHGDN |
The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7.
|
18216249 |
2008 |
Ataxia, Spinocerebellar
|
0.400 |
AlteredExpression
|
disease |
LHGDN |
Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration.
|
15932940 |
2005 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
LHGDN |
Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7.
|
15316811 |
2004 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
To identify various subtypes of spinocerebellar ataxias (SCAs) among autosomal dominant cerebellar ataxia (ADCA) patients referred to our research center, SCA1, SCA2, SCA3/MJD (Machado-Joseph disease), SCA6, SCA7, SCA8 and SCA12 loci were assessed for expansion of trinucleotide repeats.
|
15080863 |
2004 |
Ataxia, Spinocerebellar
|
0.400 |
Biomarker
|
disease |
BEFREE |
To streamline testing in a clinical setting, we converted our current panel of tests for the spinocerebellar ataxias (SCA) types SCA1, SCA2, SCA3, SCA6, and SCA7 from five independent amplification reactions analyzed by polyacrylamide gel electrophoresis (PAGE) to a single multiplex amplification reaction analyzed by capillary electrophoresis (CE).
|
11986402 |
2002 |