Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F18%3A10370711" target="_blank" >RIV/00064165:_____/18:10370711 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/18:10370711

Result on the web

<a href="https://doi.org/10.1002/mdc3.12564" target="_blank" >https://doi.org/10.1002/mdc3.12564</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/mdc3.12564" target="_blank" >10.1002/mdc3.12564</a>

Result language

angličtina

Original language name

Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia

Original language description

Ataxia telangiectasia (AT) is an autosomal-recessive, multisystem disease characterized by progressive neurologic decline, oculocutaneous telangiectasias, immunodeficiency, susceptibility to sinopulmonary infections, autoimmune or other chronic inflammatory diseases, radiation sensitivity (x-rays and c-rays), and malignancies. It is caused by a mutation in the ataxia telangiectasia mutated (ATM) gene located on chromosome 11q22- 23. In typical cases, progressive ataxia starts in the first year of life, leads to a wheelchair-bound state around the second decade, and it is variably accompanied by other movement disorders like chorea, dystonia, or myoclonus.1 However, there is increasing evidence of atypical forms or variants in which the clinical picture is different, in that it is less severe, with dystonic- predominant symptoms and without the typical clinical of AT.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30103 - Neurosciences (including psychophysiology)

Project

<a href="/en/project/GA16-13323S" target="_blank" >GA16-13323S: MIcro and MAcro Connectomics of the Subthalamic nucleus in humans: impact of neuromodulation and dopamine depletion</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Movement Disorders Clinical Practice

ISSN

2330-1619

e-ISSN

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Volume of the periodical

5

Issue of the periodical within the volume

1

Country of publishing house

US - UNITED STATES

Number of pages

3

Pages from-to

89-91

UT code for WoS article

000424114000013

EID of the result in the Scopus database

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