No association with the ETM2 locus in Czech patients with familial essential tremor

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F10%3A7078" target="_blank" >RIV/00216208:11110/10:7078 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/10:7078

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

No association with the ETM2 locus in Czech patients with familial essential tremor

Popis výsledku v původním jazyce

OBJECTIVES: Essential tremor (ET) is one of the most common neurological movement disorders. In more than half of the cases, ET is inherited in an autosomal dominant manner, but no causative ET gene has been identified. However, several candidate loci have been reported, including the ETM2 locus that was originally found in a large American family of Czech descent. METHODS: To ascertain the association with ETM2, we performed a genetic analysis of three polymorphic loci, etm1231, etm1234, and etm1240, located within the ETM2 candidate region in 61 Czech patients with a family history of ET and 68 healthy controls. RESULTS: The allele frequencies were not significantly different between the patients and the controls, and we did not observe any haplotypespecifically associated with ET. CONCLUSIONS: This is the first report on the genetics of familial essential tremor in Czech patients. Our findings provide further evidence of genetic heterogeneity for ET.

Název v anglickém jazyce

No association with the ETM2 locus in Czech patients with familial essential tremor

Popis výsledku anglicky

OBJECTIVES: Essential tremor (ET) is one of the most common neurological movement disorders. In more than half of the cases, ET is inherited in an autosomal dominant manner, but no causative ET gene has been identified. However, several candidate loci have been reported, including the ETM2 locus that was originally found in a large American family of Czech descent. METHODS: To ascertain the association with ETM2, we performed a genetic analysis of three polymorphic loci, etm1231, etm1234, and etm1240, located within the ETM2 candidate region in 61 Czech patients with a family history of ET and 68 healthy controls. RESULTS: The allele frequencies were not significantly different between the patients and the controls, and we did not observe any haplotypespecifically associated with ET. CONCLUSIONS: This is the first report on the genetics of familial essential tremor in Czech patients. Our findings provide further evidence of genetic heterogeneity for ET.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

CE - Biochemie

OECD FORD obor

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Projekt

<a href="/cs/project/NR9215" target="_blank" >NR9215: Molekulární patologie a patofysiologie neurodegenerativních onemocnění provázených poruchami hybnosti.</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)<br>S - Specificky vyzkum na vysokych skolach

Rok uplatnění

2010

Kód důvěrnosti údajů

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

Název periodika

Neuroendocrinology letters

ISSN

0172-780X

e-ISSN

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Svazek periodika

31

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

SE - Švédské království

Počet stran výsledku

4

Strana od-do

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Kód UT WoS článku

000282674300018

EID výsledku v databázi Scopus

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