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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11110/18:10370711

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

<a href="/cs/project/GA16-13323S" target="_blank" >GA16-13323S: Mikro a makro konektomika subtalamického jádra u člověka: vliv neuromodulace a dopaminové deplece</a><br>

Návaznosti

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

Rok uplatnění

2018

Kód důvěrnosti údajů

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

Název periodika

Movement Disorders Clinical Practice

ISSN

2330-1619

e-ISSN

—

Svazek periodika

5

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

3

Strana od-do

89-91

Kód UT WoS článku

000424114000013

EID výsledku v databázi Scopus

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