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Literature DB >> 9399207

A gene (ETM) for essential tremor maps to chromosome 2p22-p25.

Abstract

We report the results of linkage analysis in a large American family of Czech descent with dominantly inherited "pure" essential tremor (ET) and genetic anticipation. Genetic loci on chromosome 2p22-p25 establish linkage to this region with a maximum LOD score (Zmax) = 5.92 for the locus, D2S272. Obligate recombinant events place the ETM gene in a 15-cM candidate interval between the genetic loci D2S168 and D2S224. Repeat expansion detection analysis suggests that expanded CAG trinucleotide sequences are associated with ET. These findings will facilitate the search for an ETM gene and may further our understanding of the human motor system.

Entities: Chemical Disease Gene Species

Mesh：

Year: 1997 PMID： 9399207 DOI： 10.1002/mds.870120605

Source DB: PubMed Journal: Mov Disord ISSN： 0885-3185 Impact factor: 10.338

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Cited

50 in total

A gene (ETM) for essential tremor maps to chromosome 2p22-p25.

1. Population-based case-control study of essential tremor.

2. The management of tremor.

3. Haplotype analysis of the ETM2 locus in familial essential tremor.

4. Replication of the LINGO1 gene association with essential tremor in a North American population.

Review 5. Differential diagnosis of common tremor syndromes.

6. A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor.

7. Essential tremor: is it a neurodegenerative disease? No.

8. LINGO1 variant increases risk of familial essential tremor.

Review 9. Challenges in essential tremor genetics.

10. Overview of essential tremor.