No association with the ETM2 locus in Czech patients with familial essential tremor.
OBJECTIVE
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.
Zahorakova
Daniela
D
Department of Pediatrics, Charles University in Prague, 1st Faculty of Medicine and General Teaching Hospital, Czech Republic.
Ulmanova
Olga
O
Kemlink
David
D
Kofrankova
Marie
M
Roth
Jan
J
Martasek
Pavel
P
Ruzicka
Evzen
E
D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D018153:Czech Republic; D020329:Essential Tremor / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D018740:Genetic Heterogeneity; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D011110:Polymorphism, Genetic