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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 |
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
Spinocerebellar ataxia type 8 (SCA8) involves the expression of an expanded CTG/CAG combined repeats (CR) from opposite strands producing CUG expansion transcripts (ataxin 8 opposite strand, ATXN8OS) and a polyglutamine expansion protein (ataxin 8, ATXN8).
|
19203395 |
2009 |
|
SPINOCEREBELLAR ATAXIA 8
|
0.670 |
AlteredExpression
|
disease |
BEFREE |
Although expressed at low steady-state, ATXN8 expression level is significantly higher (P = 0.012) in cells with SCA8 large alleles than that of the control cells.
|
19229559 |
2009 |
|
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 |
|
SPINOCEREBELLAR ATAXIA 8
|
0.670 |
AlteredExpression
|
disease |
BEFREE |
Additional studies demonstrate that the SCA8 expansion is expressed in both directions (CUG and CAG) and that a novel gene expressed in the CAG direction encodes a pure polyglutamine expansion protein (ataxin 8, ATXN8).
|
18418692 |
2008 |
|
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 |
GENOMICS_ENGLAND |
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
|
10192387 |
1999 |
|
SPINOCEREBELLAR ATAXIA 8
|
0.670 |
GermlineCausalMutation
|
disease |
ORPHANET |
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|
SPINOCEREBELLAR ATAXIA 8
|
0.670 |
Biomarker
|
disease |
CTD_human |
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Deglutition Disorders
|
0.100 |
Biomarker
|
group |
HPO |
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Depressive disorder
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
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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 |
|
|
|
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Nystagmus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
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Tremor
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
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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 |
|
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