|
Pili torti-deafness syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Inherited dystonia designated by DYT locus symbols can be separated into three broad phenotypic categories: primary torsion dystonia (PTD), where dystonia is the only clinical sign (except for tremor) (DYT1, 2, 4, 6, 7, 13, 17, and 21); dystonia plus loci, where other phenotypes in addition to dystonia, including parkinsonism or myoclonus, are present (DYT3, 5/14, 11, 12, 15, and 16); and paroxysmal forms of dystonia/dyskinesia (DYT8, 9, 10, 18, 19, and 20).
|
22266882 |
2011 |
|
Pili torti-deafness syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in these two known PTD genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD.
|
20925076 |
2010 |
|
Pili torti-deafness syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our findings expand the genotypic spectrum of THAP1 and strengthen the association with upper body involvement, including the cranial and cervical districts that are usually spared in DYT1-PTD.
|
19908325 |
2009 |
|
Pili torti-deafness syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common inherited form of PTD is associated with the DYT1 mutation on chromosome 9q34.
|
19162138 |
2009 |
|
Pili torti-deafness syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Over the last two decades an increasing number of genetic causes have been identified, including an important genetic cause for early-onset primary torsion dystonia (PTD): a GAG deletion in exon 5 of DYT1, a gene that encodes torsinA.
|
18267263 |
2007 |
|
Pili torti-deafness syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
One important genetic cause of PTD is DYT1; a three base pair deletion in this gene is a major cause for early-onset dystonia.
|
17017572 |
2006 |
|
Pili torti-deafness syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
A literature review of atypical familial cases of DYT1-PTD showed that late onset, cervical involvement, and limited progression of dystonia are features frequently seen in DYT1 families.
|
16874761 |
2006 |
|
Pili torti-deafness syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
DYT1 exon rearrangements, however, do not seem to be associated with PTD.
|
14872019 |
2004 |
|
Pili torti-deafness syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Analysis of 83 published series including 5,057 patients indicated significant differences in the mean age at onset of five phenotypes of PTD (mean age at onset; 95% CI): DYT1 dystonia (11.3 years; 10.3 to 12.2), writer's cramp (38.4; 36.9 to 39.9), CD (40.8; 40.3 to 41.3), spasmodic dysphonia (43.0; 42.2 to 43.9), and blepharospasm-oromandibular dystonia (55.7; 55.1 to 56.4).
|
15505159 |
2004 |
|
Pili torti-deafness syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Clinical presentation and age at onset were more variable than in DYT1-PTD, and the neck was involved in most of those affected.
|
14978677 |
2004 |
|
Pili torti-deafness syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
We conclude that aberrant opioid transmission is unlikely to be present in DYT1-PTD and altered opioid transmission is not a common mechanism underlying all disorders of involuntary movement.
|
15390064 |
2004 |
|
Pili torti-deafness syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In one family, linkage analysis allowed us to exclude segregation of the disease with the known PTD loci (DYT1, DYT6, DYT7, and DYT13).
|
12539217 |
2003 |
|
Pili torti-deafness syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
One family member, carrier of the GAG mutation on DYT1 gene and mother of the most severely affected individual, presented with a clinically established psychogenic movement disorder resembling dystonia initially diagnosed as a severe generalized PTD.
|
12360559 |
2002 |
|
Pili torti-deafness syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PTD in this family was not linked to the known disease loci (DYT1, DYT6, DYT7, and DYT13), and the 3-bp deletion in the DYT1 gene was also excluded.
|
11921130 |
2002 |
|
Pili torti-deafness syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The authors describe the clinical features of PTD due to the TOR1A GAG deletion in an Irish family illustrating the presence of intrafamilial phenotypic variability.
|
11993591 |
2002 |
|
Pili torti-deafness syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The DYT1 gene on chromosome 9q34 is responsible for most cases of early limb-onset PTD.
|
11261511 |
2001 |
|
Pili torti-deafness syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We analysed the DYT1 mutation in 50 patients from a Serbian population, selected according to the proposed guidelines for diagnostic testing: (a) 38 patients with PTD onset < 26 years, and (b) 12 patients with the disease onset +/- 26 years, but with at least one affected family member with early-onset dystonia.
|
11757956 |
2001 |
|
Pili torti-deafness syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Diagnostic DYT1 testing in conjunction with genetic counseling is recommended for patients with PTD with onset before age 26 years, as this single criterion detected 100% of clinically ascertained carriers, with specificities of 43% to 63%.
|
10802779 |
2000 |
|
Pili torti-deafness syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In a DYT1 mutation-positive autopsy patient with PTD, we found that nigral cellularity was normal and that subregional striatal DA levels were within the control range, except for those in the rostral portions of the putamen and caudate nucleus (50% to 54% of control means).
|
10720299 |
2000 |
|
Pili torti-deafness syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Testing results from a cohort of 550 cases, including patients with different forms of dystonia and unclassified movement disorders, revealed that 72.2% of the patients with typical early-onset generalized PTD carried the GAG deletion in the DYT1 gene.
|
10627938 |
1999 |
|
Pili torti-deafness syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, the majority of cases of early onset PTD in both AJ and non-Jewish patients were found to carry a unique 3-bp (GAG) deletion in the coding region of the DYT1 gene.
|
10738516 |
1999 |