Dystonia 13, Torsion

Last update 01 Nov 2024

Basic Info

Synonyms

DYSTONIA 13, TORSION, DYSTONIA 13, TORSION, AUTOSOMAL DOMINANT, DYT13

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Introduction

DYT13 type primary dystonia has characteristics of focal or segmental dystonia with cranial, cervical, or upper limb involvement. It has been reported in individuals from three generations of one large Italian family. Age of onset varied between 5 years and adulthood. The clinical manifestations were generally mild and slowly progressive. The causative gene locus has been identified on chromosome 1p36.13-1p36.32. Transmitted in an autosomal dominant manner.

100 Clinical Results associated with Dystonia 13, Torsion

100 Translational Medicine associated with Dystonia 13, Torsion

0 Patents (Medical) associated with Dystonia 13, Torsion

Literatures (Medical) associated with Dystonia 13, Torsion

01 Dec 2017·International Journal of Angiology

Cervical Arterial Fibromuscular Dysplasia in a Biethnic Population: A Retrospective Study in the U.S.–Mexican Border

Article

Author: Cruz-Flores, Salvador ; Jose, Gavito-Higuera ; Maud, Alberto ; Rodriguez, Gustavo ; Chacon-Quesada, Tatiana ; Qureshi, Ihtesham

Background There have been studies trying to characterize Fibromuscular Dysplasia (FMD); however, most of them are based in mainly non-Hispanic sample. The objective of this study is to better understand the epidemiology and clinical characteristics of craniocervical FMD in the Hispanic population. Methods We retrospectively reviewed the cerebral angiograms performed in our center in a period of 3.5 years under any indication looking for angiographic patterns of FMD. Exclusion criteria consisted of cases in which the first angiogram was done when the patients were younger than 18 years. Patients were subdivided based on those with FMD and those without it for baseline characteristics and were looked for any associations. We further compared the same baseline characteristics among Hispanic FMD and non-Hispanic FMD population. A chart review was conducted looking for clinical features and vascular events. Results We analyzed 448 angiograms among patients younger than 18 years. We identified 47 patients with evidence of FMD involving the cervical arteries and 401 patients without FMD. Of the 47 patients with FMD in our neuroendovascular registry, we found that 76.6% were women and 57.4% were Hispanics. There was no statistical significant difference when comparing the variables across ethnicities, except history of cigarette smoking and dyslipidemia. The most common associated supra-aortic arterial lesions seen in the FMD group were intracranial aneurysm and arterial dissections. We then used same variables to compare Hispanic FMD with non-Hispanic FMD. We have found that there has been a positive association of cigarette smoking and dyslipidemia with FMD (p ≤ 0.05). Conclusion Our study suggests that FMD affecting the carotid and vertebral arteries has similar demographic pattern across ethnicities in the United States. In Hispanics, the disease appears to have a predilection for women and history of cigarette smoking. Intracranial aneurysm and arterial dissection were the most commonly associated arterial lesions.

01 Dec 2012·The American Journal of Human GeneticsQ1 · BIOLOGY

Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

Q1 · BIOLOGY

Article

Author: Andrey Y. Abramov ; Susanne A. Schneider ; Kailash P. Bhatia ; Una-Marie Sheerin ; Kira M. Holmström ; Daniah Trabzuni ; Gavin Charlesworth ; Mina Ryten ; Maria Stamelou ; Nicholas W. Wood ; Jose Bras ; Elisavet Preza ; Ignacio Rubio-Agusti ; Vincent Plagnol

In this study, we combined linkage analysis with whole-exome sequencing of two individuals to identify candidate causal variants in a moderately-sized UK kindred exhibiting autosomal-dominant inheritance of craniocervical dystonia. Subsequent screening of these candidate causal variants in a large number of familial and sporadic cases of cervical dystonia led to the identification of a total of six putatively pathogenic mutations in ANO3, a gene encoding a predicted Ca(2+)-gated chloride channel that we show to be highly expressed in the striatum. Functional studies using Ca(2+) imaging in case and control fibroblasts demonstrated clear abnormalities in endoplasmic-reticulum-dependent Ca(2+) signaling. We conclude that mutations in ANO3 are a cause of autosomal-dominant craniocervical dystonia. The locus DYT23 has been reserved as a synonym for this gene. The implication of an ion channel in the pathogenesis of dystonia provides insights into an alternative mechanism that opens fresh avenues for further research.

01 Aug 2009·Fortschritte der Neurologie · PsychiatrieQ4 · MEDICINE

Genetik der Dystonien

Q4 · MEDICINE

Article

Author: Kamm, C

The dystonias comprise a heterogeneous group of movement disorders. In contrast to the frequent sporadic forms, a variety of rare familial forms are caused by genetic mutations with mendelian inheritance. In recent years, significant progress has been made with regard to the identification of genes causing dystonia, and to the molecular pathophysiology underlying dystonic symptoms. Currently, 18 gene loci have been described causing primary dystonia, dystonia-plus syndromes or paroxysmal dystonia. 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. It is thought that the protein encoded by this gene, torsinA, participates in association of the endoplasmatic reticulum and the nuclear envelope with the cytoskeleton and hereby might influence the reaction of cells to various stresses and/or the development of specific neuronal populations involved in movement control in the brain. Other genes which have only recently been identified include: THAP1, causing adolescent-onset primary dystonia of mixed type (DYT6); ATP1A3, responsible for Rapid-Onset Dystonia-Parkinsonism (RDP, DYT12); PRKRA, causing young-onset dystonia-parkinsonism (DYT16); and SLC2A1, causing paroxysmal exertion-induced dystonia with haemolytic anemia (DYT18). Further, five other loci for primary dystonia (DYT2, DYT4, DYT7, DYT13 and DYT17) have been identified, for which the causative genes remain to be discovered.

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Dystonia 13, Torsion

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