Zahorakova Daniela, Ulmanova Olga, Kemlink David, Kofrankova Marie, Roth Jan, Martasek Pavel, Ruzicka Evzen
Department of Pediatrics, Charles University in Prague, 1st Faculty of Medicine and General Teaching Hospital, Czech Republic.
Neuro Endocrinol Lett. 2010;31(4):549-52.
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.
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.
The allele frequencies were not significantly different between the patients and the controls, and we did not observe any haplotype specifically associated with ET.
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.
特发性震颤（ET）是最常见的神经运动障碍之一。在超过半数的病例中，ET以常染色体显性方式遗传，但尚未鉴定出致病的ET基因。然而，已有多个候选基因座被报道，包括最初在一个来自捷克裔的美国家庭中发现的ETM2基因座。
为确定与ETM2的关联，我们对位于ETM2候选区域内的三个多态性基因座（etm1231、etm1234和etm1240）进行了基因分析，研究对象为61名有ET家族病史的捷克患者和68名健康对照。
患者和对照之间的等位基因频率无显著差异，且我们未观察到任何与ET特异性相关的单倍型。
这是关于捷克患者家族性特发性震颤遗传学的首份报告。我们的研究结果为ET的遗传异质性提供了进一步证据。
