|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Linkage of a gene causing classic dystonia in a large non-Jewish kindred (DYT1) and in a group of Ashkenazi Jewish families, to the gelsolin (GSN) and arginino-succinate synthetase (ASS) loci on chromosome 9q32-34, respectively, was recently determined.
|
1985454 |
1991 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
This study provides evidence that a gene other than DYT1 is responsible for some cases of adult cervical-onset dystonia.
|
8309575 |
1994 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Two other non-Jewish families with atypical ITD (later onset and/or cranial or cervical involvement) are not linked to DYT1, which indicates involvement of other genes in dystonia.
|
8079990 |
1994 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia.
|
7845403 |
1994 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Genetic analysis excluded the chromosomal region containing the DYT1 locus as being responsible for dystonia in this family.
|
7629534 |
1995 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
These findings argue against a role for the founder mutation in the DYT1 gene in the etiology of occupational hand dystonia in this ethnic group.
|
8684386 |
1996 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Of the 25 patients with early onset, 9 were considered phenocopies of DYT1 having normal examinations except for dystonia, normal radiographic and other laboratory studies, and onset in a limb or the neck.
|
9191768 |
1997 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Non-DYT1 dystonia in a large Italian family.
|
9120448 |
1997 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.
|
9618171 |
1998 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Early-onset torsion dystonia, an autosomal dominant disease associated with the DYT1 locus on 9q34, is the most frequent genetic form of dystonia.
|
9585364 |
1998 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Future study of normal and mutant torsin A, as well as the identification of other primary torsion dystonia genes, should help elucidate the mechanisms underlying dystonia.
|
9725083 |
1998 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
The MF pattern was present in DYT1 carriers with and without clinical manifestations and persisted in DYT1 dystonia patients in whom involuntary movements were suppressed by sleep.
|
9749595 |
1998 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutational analysis of most of the coding region and splice junctions of TOR1A and TOR1B did not reveal additional mutations in typical early onset cases lacking the GAG deletion (N = 17), in dystonic individuals with apparent homozygosity in the 9q34 chromosomal region (N = 5), or in a representative Ashkenazic Jewish individual with late onset dystonia, who shared a common haplotype in the 9q34 region with other late onset individuals in this ethnic group.
|
10644435 |
1999 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
To evaluate the contribution of these genetic loci to other families with familial "non-DYT1" dystonia five large families with dystonia were studied using genetic markers spanning the DYT6 and DYT7 regions.
|
10449567 |
1999 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
That torsinA mRNA is enriched in several basal ganglia nuclei, including the dopamine neurons in the substantia nigra, is intriguing since it suggests that DYT1 dystonia may be associated with a dysfunction in dopamine transmission.
|
10553994 |
1999 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
We demonstrate that writer's cramp or focal cervical dystonia is a clinical presentation of DYT1 as well as generalized dystonia.
|
10225357 |
1999 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A 3-base pair (GAG) deletion in the DYT1 gene has recently been found to be responsible for most cases of early-onset primary generalized dystonia.
|
11104212 |
2000 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Features of dystonia in clinically ascertained (affected) DYT1 GAG deletion carriers and noncarriers were compared to determine a classification scheme that optimized prediction of carriers.
|
10802779 |
2000 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus.
|
10881900 |
2000 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
For accurate diagnosis and genetic counseling, screening for the DYT1 deletion is of great interest in cases with generalized dystonia without a family history.
|
10714658 |
2000 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Dystonia remained focal in both siblings.A DYT1 gene deletion was excluded.
|
11481697 |
2001 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
This 18-bp deletion is the first additional mutation, beyond the GAG-deletion (Glu302/303del), to be found in the TOR1A gene, and is associated with a distinct type of early onset dystonia.
|
11523564 |
2001 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Only three apparently sporadic patients among the 50 individuals tested were positive for the GAG deletion in the DYT1 gene: one with typical, generalized, one with long-lasting, non-progressive segmental, and one with multifocal dystonia.
|
11757956 |
2001 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
We conclude that marked phenotypic heterogeneity characterizes some families with DYT1 dystonia, suggesting a role for genetic, environmental, or other modifiers.
|
11921121 |
2002 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The DYT1 dystonia mutation is associated with an abnormal metabolic brain network characterized by hypermetabolism of the basal ganglia, supplementary motor area, and the cerebellum.
|
12447944 |
2002 |