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Медицинская библиотека · Neuro endocrinology letters · 2010

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

Zahorakova Daniela, Ulmanova Olga, Kemlink David, Kofrankova Marie, Roth Jan, Martasek Pavel, Ruzicka Evzen

СтатьяПоддержка исследования: вне правительства СШАПеревод пока не подготовлен

Аннотация

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 haplotype specifically 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.

Для цитирования: Zahorakova Daniela, Ulmanova Olga, Kemlink David, Kofrankova Marie, Roth Jan, Martasek Pavel, Ruzicka Evzen. No association with the ETM2 locus in Czech patients with familial essential tremor.. Neuro endocrinology letters. 2010.

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