A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12

@article{Chouery2008ANL,
  title={A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12},
  author={Eliane Chouery and Jessy Kfoury and Val{\'e}rie Delague and Nadine Jalkh and P. Bejjani and J. L. Serre and Andr{\'e} M{\'e}garban{\'e}},
  journal={Neurogenetics},
  year={2008},
  volume={9},
  pages={287-293}
}
Primary torsion dystonia is a clinically and genetically heterogeneous group of movement disorders. Fifteen different types of dystonia have been described to date, of whom 14 loci have been mapped, but only seven genes identified. Several different modes of inheritance have been described, including autosomal dominant transmission with reduced penetrance (12 loci), recessive X-linked (one locus), and autosomal recessive transmission (three loci). In this study, we describe the localization of… Expand
Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia
TLDR
The identification of mutations in HPCA as a cause of AR primary isolated dystonia paves the way for further studies to assess whether “DYT2 dySTONia” is a genetically homogeneous condition or not. Expand
[Genetics of dystonia].
  • C. Kamm
  • Medicine
  • Fortschritte der Neurologie-Psychiatrie
  • 2009
TLDR
The most frequent form of inherited dystonia, according to current knowledge, is early-onset generalized DYT1 dySTONia, caused by a deletion of three basepairs, GAG, in the DyT1 (TOR1A) gene. Expand
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
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The data indicate that loss-of-function mutations affecting a specific region of COL6A3 cause recessive isolated dystonia with underlying neurodevelopmental deficits and highlight the brain extracellular matrix as a contributor to dySTONia pathogenesis. Expand
Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia
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It is reported that a novel homozygous missense mutation, c.156 C > A in VPS16, co-segregating with disease status in a Chinese consanguineous family with adolescent-onset primary dystonia, is identified by whole exome sequencing and homozygosity mapping. Expand
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Mutations in THAP1 underlie a substantial proportion of early-onset primary dystonia in non-DYT1 families, and the clinical features that are characteristic of affected individuals who have mutations in TH AP1 include limb and cranial muscle involvement, and speech is often affected. Expand
Genetics of Primary Torsion Dystonia
TLDR
Clinical “red flags” of individual subtypes of monogenic dystonia have important implications for patients and their families with regard to counseling, prognosis, and treatment are highlighted and guidelines for genetic testing are reviewed. Expand
Genetics and treatment of dystonia.
TLDR
The authors review genetic etiologies and discuss phenotypes as well as counseling of patients regarding prognosis and progression of the disease and address pharmacologic and surgical treatment options for various forms of dystonia. Expand
DYT2 screening in early-onset isolated dystonia.
  • M. Carecchio, C. Reale, +10 authors B. Garavaglia
  • Medicine
  • European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
  • 2017
TLDR
There is rising suspicion that HPCA mutations probably represent a very rare cause of dystonia in childhood-adolescence and larger studies will help determining the real mutational frequency of this gene also in different ethnic groups. Expand
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study
TLDR
Although mutations in THAP1 might have only a minor role in patients with different, but mainly focal, forms of dystonia, they do seem to be associated with early-onset generalised dySTONia with spasmodic dysphonia. Expand
The monogenic primary dystonias.
  • U. Müller
  • Biology, Medicine
  • Brain : a journal of neurology
  • 2009
TLDR
All known aspects on each of the monogenic primary dystonias, including phenotype, neuropathology, imaging, inheritance, mapping, molecular genetics, molecular pathology, animal models and treatment are summarized. Expand
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