Mapping of a familial essential tremor gene, FET1, to chromosome 3q13.

• Published in: Nature Genetics
• Main Authors: Gulcher, J R, Jonsson, P, Kong, A, Kristjansson, K, Frigge, M L, Karason, A, Einarsdottir, I E, Stefansson, H, Einarsdottir, A S, Sigurdardottir, S, Baldursson, S, Bjornsdottir, S, Hrafnkelsdottir, S M, Jakobsson, F, Benedickz, J, Stefansson, K
• Other Authors: deCODE Genetics, Reykjavik, Iceland.
• Format: Article in Journal/Newspaper
• Language: English
• Published: Nature Pub. Co 2010
• Subjects: Chromosome Mapping; Chromosomes; Human; Pair 3; Female; Genetic Markers; Genome; Genotype; Humans; Iceland; Linkage (Genetics); Lod Score; Male; Tremor
• Online Access: http://hdl.handle.net/2336/111221; https://doi.org/10.1038/ng0997-84

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Essential tremor (ET), the most common movement disorder in humans, appears to be inherited as an autosomal dominant trait in many families. The familial form is called familial essential tremor (FET), which seems similar to sporadic essential tremor. ET is a cause of substantial disability, particularly in the elderly. The prevalence of Parkinson's disease and dystonia may be increased in families with ET, but other movement disorders are seldom encountered in these families. Here we report the results of a genome-wide scan for FET genes in 16 Icelandic families with 75 affected individuals, in whom FET was apparently inherited as a dominant trait. The scan, which was performed with a 10-cM framework map, revealed one locus on chromosome 3q13 to which FET mapped with a genome-wide significance when the data were analysed either parametrically, assuming an autosomal dominant model (lod score = 3.71), or non-parametrically (NPL Z score = 4.70, p < 6.4 x 10(-6).