|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Whereas PEO1 mutations were not found in our cohort, POLG frequently caused ataxia with PEO (47%), psychiatric comorbidities (20%) and, more rarely, with epilepsy (14%).
|
20803511 |
2010 |
|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The SCA 8 expansion is associated with ataxia in Scotland.
|
18095954 |
2008 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Targeted deletion of the KLHL1 gene in Purkinje neurons results in dendritic deficits in these neurons, abnormal gait, and progressive loss of motor coordination in mice [He Y, Zu T, Benzow KA, Orr HT, Clark HB, Koob MD (2006) Targeted deletion of a single SCA8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits.J Neurosci 26:9975-9982].
|
17289272 |
2007 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We report two patients who developed other causes of ataxia in the setting of SCA-3 and SCA-8 mutations, respectively.
|
16621237 |
2007 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Early onset of ataxia in a child with a pathogenic SCA8 allele.
|
16087061 |
2005 |
|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
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 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Do CTG expansions at the SCA8 locus cause ataxia?
|
12838526 |
2003 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
These results are in agreement with the hypothesis of the CTG expansion in the SCA8 locus being responsible for the SCA8 ataxia showing reduced penetrance.
|
12431257 |
2002 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Isolated patients also had TNR expansions at the MJD1 (6%), SCA8 (6%), or FRDA (8%) genes; in addition, an expanded allele at the TATA-binding protein gene (TBP), with 43 CAGs, was present in a patient with ataxia and mental deterioration.
|
11939898 |
2002 |
|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
SCA8 repeat expansions in ataxia: a controversial association.
|
11591855 |
2001 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Preliminary evidence suggests that large repeat alleles at SCA8 that are non-penetrant for ataxia may be a susceptibility factor for major psychosis.
|
10813808 |
2000 |
|
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We have previously assigned the IOSCA locus (HGMW-approved symbol SCA8) to chromosome 10q, where no previously identified ataxia loci are located.
|
9027505 |
1997 |
|
Ataxia
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|