|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil.
|
31188927 |
2019 |
|
Ataxia, Spinocerebellar
|
0.100 |
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3, the most common dominant spinocerebellar ataxia (SCA) worldwide, is caused by over-repetition of a CAG repeat in the ATXN3/MJD1 gene, which translates into a polyglutamine tract within the ataxin-3 protein.
|
30087083 |
2018 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
In regards to the spinocerebellar ataxias, oculomotor symptoms are common in many subtypes, but diplopia is most common in SCA3 also known as Machado-Joseph disease.
|
29867716 |
2018 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
Machado-Joseph disease (SCA3/MJD) is the most frequent spinocerebellar ataxia worldwide and characterized by brainstem, basal ganglia, and cerebellar damage.
|
30014526 |
2018 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
To characterize the clinical features in patients with spinocerebellar ataxia (SCA) type 1, SCA2, and SCA3 and to evaluate the oculomotor dysfunction by using optokinetic nystagmus (OKN) testing, which may be a sensitive marker.
|
30158163 |
2018 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To study the long-term evolution of patient-reported outcome measures (PROMs) in the most common spinocerebellar ataxias (SCAs), we analyzed 8 years follow-up data of the EUROSCA Natural History Study, a cohort study of 526 patients with SCA1, SCA2, SCA3 and SCA6.
|
29959555 |
2018 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
This study was done to assess the polysomnographic abnormalities in patients with Spinocerebellar ataxia (SCA1, SCA2 and SCA3) and also to evaluate whether oculomotor abnormalities interfere with sleep stage R scoring.
|
29458753 |
2018 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
Machado-Joseph disease (MJD) is a neurodegenerative spinocerebellar ataxia (SCA) associated with an expanded polyglutamine tract within ataxin-3 for which there is currently no available therapy.
|
28032667 |
2017 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia is an inherited neurodegenerative disorder that the most prevalent type is type 3 (SCA3).
|
28619276 |
2017 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine (polyQ) disorder for which the routine molecular testing is based on PCR and automated capillary electrophoresis.
|
27647319 |
2016 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type3 (SCA3) is an autosomal dominant neurodegenerative disorder.
|
27934588 |
2016 |
|
Ataxia, Spinocerebellar
|
0.100 |
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
|
0.100 |
Biomarker
|
disease |
BEFREE |
More studies are required to develop therapeutic agents for treating spinocerebellar ataxia type 3 (SCA3), which is caused by mutant polyglutamine-expanded ataxin-3 and is the most prevalent subtype of spinocerebellar ataxias.
|
26254860 |
2015 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
See Klockgether (doi:10.1093/awv253) for a scientific commentary on this article.The spinocerebellar ataxias types 2 (SCA2) and 3 (SCA3) are autosomal dominantly inherited cerebellar ataxias which are caused by CAG trinucleotide repeat expansions in the coding regions of the disease-specific genes.
|
26362908 |
2015 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 3(SCA3), also known as Machado-Joseph disease (MJD), is the most frequent subtype of autosomal dominant inherited spinocerebellar ataxias, which caused by the expansion of CAG repeats in the ATXN3 gene.
|
25869927 |
2015 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To date, a total of nine polyQ disorders have been described: six spinocerebellar ataxias (SCA) types 1, 2, 6, 7, 17; Machado-Joseph disease (MJD/SCA3); Huntington's disease (HD); dentatorubral pallidoluysian atrophy (DRPLA); and spinal and bulbar muscular atrophy, X-linked 1 (SMAX1/SBMA).
|
24816443 |
2014 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
The most common spinocerebellar ataxias (SCA)--SCA1, SCA2, SCA3, and SCA6--are caused by (CAG)n repeat expansion.
|
24780882 |
2014 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is the most common type of spinocerebellar ataxia in China.
|
23879331 |
2014 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 3 (SCA3) caused by polyglutamine-expanded ataxin-3 is the most prevalent subtype of spinocerebellar ataxias.
|
23347954 |
2013 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
Sixteen independent patients with involuntary movements, psychiatric disturbances and ataxia not having a HTT mutation were searched for loci PRNP (prion protein, HDL1), JPH3 (HDL2), ATN1 (dentatorubral-pallidoluysian atrophy), ATX2 (spinocerebellar ataxia 2) ATXN3 (spinocerebellar ataxia 3), and TBP (spinocerebellar ataxia 17=HDL4).
|
22971727 |
2013 |
|
Ataxia, Spinocerebellar
|
0.100 |
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Multimodal neurophysiological study of SCA2 and SCA3 autosomal dominant hereditary spinocerebellar ataxias.
|
21163215 |
2011 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A spinocerebellar ataxia family with expanded alleles in the TATA-binding protein gene and ataxin-3 gene.
|
20199210 |
2010 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Machado-Joseph disease (MJD), caused by a CAG repeat expansion located in exon10 of the ATXN3 gene, is now regarded as one of the most common spinocerebellar ataxia (SCA) in the world.
|
20334689 |
2010 |