DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13–36.32 in an Italian family with cranial‐cervical or upper limb onset

@article{Valente2001DYT13AN,
  title={DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13–36.32 in an Italian family with cranial‐cervical or upper limb onset},
  author={Enza Maria Valente and A. R. Bentivoglio and Emanuele Cassetta and Peter H Dixon and M. B. Davis and Alessandro Ferraris and T{\`a}mara Ialongo and Marina Frontali and Nicholas W. Wood and Alberto Albanese},
  journal={Annals of Neurology},
  year={2001},
  volume={49}
}
Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant fashion with reduced penetrance. The DYT1 gene on chromosome 9q34 is responsible for most cases of early limb‐onset PTD. Two other PTD loci have been mapped to date. The DYT6 locus on chromosome 8 is associated with a mixed phenotype, whereas the DYT7 locus on chromosome 18p is associated with adult onset focal cervical dystonia. Several families… Expand
Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish–Mennonites
TLDR
The DYT6 gene is in a 23 cM region on chromosome 8q21‐22 and does not account for all familial PTD in Amish–Mennonites, and Typing of additional markers in the DyT6‐linked families revealed recombinations that now place the gene in a23 cM regions surrounding the centromere. Expand
Phenotypic characterization of DYT13 primary torsion dystonia
TLDR
Clinical presentation and age at onset were more variable than in DYT1‐PTD, and the neck was involved in most of those affected, but the individuals with generalised dystonia were not severely disabled and were able to lead independent lives. Expand
Novel Italian family supports clinical and genetic heterogeneity of primary adult‐onset torsion dystonia
TLDR
Findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family. Expand
[Genetics of dystonia].
TLDR
It is anticipated that the traditional clinical and etiological classifications of dystonia will increasingly be replaced by a genetic one and that the identification of more dySTONia genes may lead to a better understanding of these largely nondegenerative disorders. Expand
Clinical and genetic characterization of a large Dutch family with primary focal dystonia
TLDR
A large family with a primary focal dystonia from a small Dutch village on a former island spanning three generations and not linked to known genes is described, crucial for further advancement in molecular genetic characterization of focal dySTONia. Expand
Clinical and genetic evaluation in a French population presenting with primary focal dystonia
TLDR
The results illustrate the importance of genetic factors and the clinical heterogeneity of PFD and indicate the existence of one or several as yet unmapped genes responsible for these diseases. Expand
Age at onset as a factor in determining the phenotype of primary torsion dystonia
TLDR
Phenotypic variation in PTD presentation is due to the effect of age at onset modulating the expression of a genetic disorder with a caudal-to-rostral change in the site of onset. Expand
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
TLDR
It is suggested that primary familial adult‐onset BSP is a distinct entity among inherited PTD and is caused by a novel, unmapped gene. Expand
Early onset primary dystonia.
Dystonia is a syndrome characterized by sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. It is classified by age at onset, by distribution,Expand
Phenotypes and genetic architecture of focal primary torsion dystonia
TLDR
It is suggested that genetic research into FPTDs will benefit from this approach and genetic research strategies to decipher the complex background of focal dystonias are discussed. Expand
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TLDR
A linkage study in a large pedigree with seven definitely affected, six possibly affected and 16 phenotypically unaffected family members assigns an ITD gene for the common focal form with a maximal lod score of 3.17 to the region telomeric of D18S1153 on chromosome 18p. Expand
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TLDR
The role of DYT1 in a Swedish family with adult onset idiopathic torsion dystonia in four generations was examined, and the disease seems to be inherited in an autosomal dominant mode with reduced penetrance in this family. Expand
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TLDR
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The findings illustrate the genetic heterogeneity of the dystonias and indicate the existence of one or more as yet unmapped genes for dystonia. Expand
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TLDR
This dystonia gene (ITD1) shows tight linkage with the gene encoding gelsolin, an actin binding protein, and appears by multipoint linkage analysis to lie in the q32-q34 region of chromosome 9 between ABO and D9S26, a region that also contains the locus for dopamine-beta-hydroxylase. Expand
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TLDR
A family of nine related genes (50-70% similarity) and their orthologues in species including human, mouse, rat, pig, zebrafish, fruitfly, and nematode is revealed; at least four of these genes occur in the human genome. Expand
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TLDR
A locus (DYT6) associated with prominent cranial–cervical ITD in two large Mennonite families to chromosome 8 is mapped, suggesting a shared mutation from the recent past. Expand
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TLDR
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TLDR
Evidence is provided that a gene other than DYT1 is responsible for some cases of adult cervical-onset dystonia in a non-Jewish North American family with adult-ONSet ITD. Expand
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