Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea

Jeong Hyun Kim, Yoon Hee Cho, Jeong Kook Kim, Yong Gou Park, Jin Woo Chang

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Essential tremor (ET) is the most common but a complex neurological movement disorder. ET usually affects hands, but it may also affect head, neck, face, jaw, tongue, voice, trunk and, rarely, legs and feet. Although two susceptibility loci were identified on chromosome 2p24 (ETM2) and 3q13 (ETM1 or FET1), the exact transcript(s) has not been cloned. We analyzed unrelated Korean individuals with ET for a genetic association with three reported polymorphic loci (STS-etm1240, STS-etm1231, and STS-etm1234) in a candidate region on chromosome 2p24.1. We investigated sequence polymorphisms at these three loci in 30 ET patients and 30 controls using polymerase chain reaction (PCR) amplification followed by sequence analysis. Eight different sequence variants (5 at etm1234, 2 at etm1240, and 1 at etm1231) were detected from 7 patients. Of interest, sequence variants were found only in classic ET patients but not in nonclassic ET patients and healthy individuals. Additionally, we also observed that a decrease in the number of short tandem repeats within etm1234 locus is more frequent in ET patients compared to controls. Our data thus support that ET development would be linked with the ETM2 locus and will facilitate the search for the ETM2 gene transcript.

Original languageEnglish
Pages (from-to)1650-1653
Number of pages4
JournalMovement Disorders
Volume20
Issue number12
DOIs
Publication statusPublished - 2005 Dec 1

Fingerprint

Essential Tremor
Korea
Chromosomes
Movement Disorders
Nervous System Diseases
Jaw
Tongue
Microsatellite Repeats
Sequence Analysis
Foot
Leg
Neck
Hand
Head
Polymerase Chain Reaction

Keywords

  • Essential tremor (ET)
  • ETM2
  • Polymorphism
  • Short tandem repeats (STRs)

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea. / Kim, Jeong Hyun; Cho, Yoon Hee; Kim, Jeong Kook; Park, Yong Gou; Chang, Jin Woo.

In: Movement Disorders, Vol. 20, No. 12, 01.12.2005, p. 1650-1653.

Research output: Contribution to journalArticle

Kim, Jeong Hyun ; Cho, Yoon Hee ; Kim, Jeong Kook ; Park, Yong Gou ; Chang, Jin Woo. / Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea. In: Movement Disorders. 2005 ; Vol. 20, No. 12. pp. 1650-1653.
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