Dystonia
|
0.480 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
|
|
|
Dystonia
|
0.480 |
Biomarker
|
phenotype |
HPO |
|
|
|
Dystonia
|
0.480 |
GeneticVariation
|
phenotype |
BEFREE |
Dystonia is potentially included as a further part of the phenotype spectrum of CACNA1A gene mutations.
|
25468264 |
2015 |
Dystonia
|
0.480 |
GeneticVariation
|
phenotype |
BEFREE |
Early dysphagia, ophthalmoparesis and neck dystonia in the oldest patient, without the loss of vibratory and proprioceptive sensation supporting the theory of phenotypic variability within families with SCA6.
|
9925237 |
1999 |
Dystonia
|
0.480 |
GeneticVariation
|
phenotype |
BEFREE |
Factors associated with shorter survival were: dysphagia (hazard ratio 4·52, 95% CI 1·83-11·15) and a higher value for the Scale for the Assessment and Rating of Ataxia (SARA) score (1·26, 1·19-1·33) for patients with SCA1; older age at inclusion (1·04, 1·01-1·08), longer CAG repeat length (1·16, 1·03-1·31), and higher SARA score (1·15, 1·10-1·20) for patients with SCA2; older age at inclusion (1·44, 1·20-1·74), dystonia (2·65, 1·21-5·53), higher SARA score (1·26, 1·17-1·35), and negative interaction between CAG and age at inclusion (0·994, 0·991-0·997) for patients with SCA3; and higher SARA score (1·17, 1·08-1·27) for patients with SCA6.
|
29553382 |
2018 |
Dystonia
|
0.480 |
GeneticVariation
|
phenotype |
BEFREE |
Inborn errors of CACNA1A-encoded P/Q-type calcium channels impair synaptic transmission, producing early and lifelong neurological deficits, including childhood absence epilepsy, ataxia and dystonia.
|
31800012 |
2020 |
Dystonia
|
0.480 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
|
17575281 |
2007 |
Dystonia
|
0.480 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
|
17575281 |
2007 |
Dystonia
|
0.480 |
Biomarker
|
phenotype |
BEFREE |
The presence of dystonia is associated with greater severity of ataxia in SCA1, 2, and 3, but predictive of a slower progression in SCA6.
|
29089256 |
2017 |
Dystonia
|
0.480 |
GeneticVariation
|
phenotype |
BEFREE |
To our knowledge, none of these genes have previously been associated with isolated BSP, although other CACNA1A mutations have been associated with both positive and negative motor disorders including ataxia, episodic ataxia, hemiplegic migraine, and dystonia.
|
29770609 |
2018 |
Dystonia
|
0.480 |
GeneticVariation
|
phenotype |
LHGDN |
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
|
15710862 |
2005 |
Dystonia
|
0.480 |
GeneticVariation
|
phenotype |
BEFREE |
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
|
15710862 |
2005 |
Dystonia
|
0.480 |
Biomarker
|
phenotype |
BEFREE |
We evaluated 104 patients with SCA (59 patients with SCA3, 20 with SCA2, 20 with SCA7 and 5 with SCA6) and assessed dystonia frequency and types.
|
30616057 |
2019 |