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

D. Zahorakova, O. Ulmanova, D. Kemlink, M. Kofrankova, J. Roth, P. Martasek, E. Ruzicka,

. 2010 ; 31 (4) : 549-52.

Language English Country Sweden

Document type Journal Article, Research Support, Non-U.S. Gov't

Persistent link   https://www.medvik.cz/link/bmc12026135

Grant support
NR9215 MZ0 CEP Register

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.

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