SPINOCEREBELLAR ATAXIA 8
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by CTA/CTG repeat expansion in the ATXN8/ATXN8OS gene.
|
31471687 |
2019 |
SPINOCEREBELLAR ATAXIA 8
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
We recently reported a novel -62 G/A polymorphism within ataxin 8 (ATXN8) gene promoter region, with -62 G displaying significantly higher luciferase activity compared with -62 A. Phenotypic variability in spinocerebellar ataxia type 8 (SCA8) has been suggested, and large SCA8 repeats were found in patients with Parkinson's disease (PD).
|
22577844 |
2012 |
SPINOCEREBELLAR ATAXIA 8
|
0.670 |
GeneticVariation
|
disease |
BEFREE |
Bi-directional expression of the spinocerebellar ataxia type 8 (SCA8) CTG CAG expansion produces CUG expansion RNAs (CUG(exp)) from the ATXN8OS gene and a nearly pure polyglutamine expansion protein encoded by ATXN8 CAG(exp) transcripts expressed in the opposite direction.
|
19680539 |
2009 |
Movement Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
We report the case of a 29 year old woman with a complex movement disorder syndrome due to the combination of coexisting pathological triplet repeat expansions of huntingtin and ATXN8 genes.
|
20403608 |
2010 |
Parkinson Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that ATXN8 -62 G/A polymorphism plays a role in Taiwanese PD susceptibility.
|
22577844 |
2012 |
Atypical Parkinsonism
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we assessed the SCA8 repeat size ranges in Taiwanese Parkinson's disease, Alzheimer's disease and atypical parkinsonism and investigated the genetic variation modulating ATXN8 expression.
|
19229559 |
2009 |
SPINOCEREBELLAR ATAXIA 8
|
0.670 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
|
10192387 |
1999 |
SPINOCEREBELLAR ATAXIA 8
|
0.670 |
Biomarker
|
disease |
CTD_human |
|
|
|
SPINOCEREBELLAR ATAXIA 8
|
0.670 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 8 (SCA8) is a progressive neurological disorder caused by the expanded repeat CTA/CTG of two overlapping genes, ATXN8OS and ATXN8, expressed bidirectionally.
|
28229454 |
2017 |
SPINOCEREBELLAR ATAXIA 8
|
0.670 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
|
10192387 |
1999 |
Deglutition Disorders
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
Depressive disorder
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dysarthria
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dystonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Muscle Rigidity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Muscle Spasticity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Nystagmus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Tremor
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Urinary Incontinence
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hyperreflexia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Endotracheal aspiration
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Gait, Unsteady
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Bradykinesia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Pyramidal sign
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Facial grimacing
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|