SPINOCEREBELLAR ATAXIA 8
|
0.600 |
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by expanded CTA/CTG repeats in the ATXN8OS gene.
|
29916049 |
2019 |
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
It has been reported that expanded non-coding CTG trinucleotide repeat in the ATXN8OS transcripts leads to SCA8 coupled neurodegeneration.
|
27302466 |
2016 |
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
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 |
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Out of 76 apparently homozygous subjects, RP-PCR allowed us to detect 56 expansions specific to DM2, and out of 378 ataxia patients, a large allele of the ATXN8OS gene (SCA8) was found in 25 subjects.
|
22581592 |
2012 |
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 8 (SCA 8) is an autosomal dominant disorder characterized by cerebellar ataxia with additional features, such as upper motor neuron signs, urinary incontinence and dysphagia.
|
18980793 |
2009 |
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Spinocerebellar ataxia type 8 (SCA8) involves bidirectional expression of CUG (ATXN8OS) and CAG (ATXN8) expansion transcripts.
|
19229559 |
2009 |
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
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
|
0.600 |
Biomarker
|
disease |
BEFREE |
Using stably induced cell models expressing 0, 23, 88 and 157 CR, we study the role of ATXN8OS transcripts in SCA8 pathogenesis.
|
19203395 |
2009 |
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia 8 (SCA8), a triplet repeat expansion disorder, is genetically distinct from the other inherited ataxias, but its unusually variable phenotype can make its diagnosis difficult.
|
19559641 |
2009 |
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
Biomarker
|
disease |
BEFREE |
The objectives of this study were to: (i) establish whether the spinocerebellar ataxia type 8 (SCA 8) expansion is associated with ataxia in Scotland; (ii) test the hypothesis that SCA 8 is associated with neuropsychological impairment; and (iii) review neuroradiological findings in SCA 8.
|
18095954 |
2008 |
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
Biomarker
|
disease |
BEFREE |
Moreover, the expression of non-coding (CUG)(n) expansion transcripts (ataxin 8 opposite strand, ATXN8OS) and the discovery of intranuclear polyglutamine inclusions suggest SCA8 pathogenesis may involve toxic gain-of-function mechanisms at both the protein and RNA levels.
|
18418692 |
2008 |
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
Biomarker
|
disease |
BEFREE |
The size of the expansion was determined using a fluorescent PCR approach in 10 common SCA genes: 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 DRPLA (ATN1), in 165 ataxia patients and 307 controls of Welsh origin.
|
17961920 |
2007 |
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
Biomarker
|
disease |
BEFREE |
Moreover, the expression of noncoding (CUG)n expansion transcripts (ataxin 8 opposite strand, ATXN8OS) and the discovery of intranuclear polyglutamine inclusions suggests SCA8 pathogenesis involves toxic gain-of-function mechanisms at both the protein and RNA levels.
|
16804541 |
2006 |
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To establish whether the DNA expansion linked to spinocerebellar ataxia type 8 (SCA 8) is associated with ataxia in Scotland; to clarify the range of associated clinical phenotypes; and to compare the findings with previous reports.
|
14966165 |
2004 |
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes.
|
12505613 |
2003 |
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Similarly, human KLHL1AS is expressed in various brain tissues, including the cerebellum, the tissue most affected by SCA8, and was detected at low levels in testis and kidney.
|
11919683 |
2002 |
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia 8 (SCA8) is caused by a CTG repeat expansion in an untranslated region of a recently cloned gene on 13q21.
|
10976642 |
2000 |
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
SPINOCEREBELLAR ATAXIA 8
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
nervous system disorder
|
0.300 |
Biomarker
|
group |
CTD_human |
A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia.
|
12470185 |
2002 |
PARKINSON DISEASE, LATE-ONSET
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Parkinsonian Disorders
|
0.110 |
GeneticVariation
|
group |
BEFREE |
Thirty of the 324 patients with early-onset parkinsonism (9.3%) were found to carry mutations in Parkin, PINK1, or PLA2G6 or had increased trinucleotide repeats in SCA8.
|
30788857 |
2019 |
Deglutition Disorders
|
0.110 |
Biomarker
|
group |
BEFREE |
Spinocerebellar ataxia type 8 (SCA 8) is an autosomal dominant disorder characterized by cerebellar ataxia with additional features, such as upper motor neuron signs, urinary incontinence and dysphagia.
|
18980793 |
2009 |
Progressive cerebellar ataxia
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
A moderate SCA8 expansion (85-97 repeats) was found in two unrelated families with slowly progressive cerebellar ataxia.
|
12140678 |
2002 |