Further evidence of genetic heterogeneity in familial essential tremor - PubMed (original) (raw)
Further evidence of genetic heterogeneity in familial essential tremor
Paolo Aridon et al. Parkinsonism Relat Disord. 2008.
Abstract
Familial essential tremor (FET) is a common hereditary movement disorder with phenotypic variability and genetic heterogeneity. To date, linkage analyses revealed three loci associated to essential tremor (ET) (ETM1 on 3q13, ETM2 on 2p22-25, and a locus on 6p23). We performed a genetic analysis of these candidate chromosomal regions in a fifth-generation Italian kindred with autosomal-dominant ET. Of the 22 clinically evaluated family members, nine were affected by ET. The genetic study indicates that the ET in this family is not associated to any of the known ET loci. These findings support evidence of further genetic heterogeneity for such disease.
Similar articles
- [Molecular genetic analysis of essential tremor].
Illarioshkin SN, Rakhmonov RA, Ivanova-Smolenskaia IA, Brice A, Markova ED, Miklina NI, Kliushnikov SA, Limborskaia SA. Illarioshkin SN, et al. Genetika. 2002 Dec;38(12):1704-9. Genetika. 2002. PMID: 12575458 Russian. - No association with the ETM2 locus in Czech patients with familial essential tremor.
Zahorakova D, Ulmanova O, Kemlink D, Kofrankova M, Roth J, Martasek P, Ruzicka E. Zahorakova D, et al. Neuro Endocrinol Lett. 2010;31(4):549-52. Neuro Endocrinol Lett. 2010. PMID: 20802447 - Genetics of essential tremor.
Deng H, Le W, Jankovic J. Deng H, et al. Brain. 2007 Jun;130(Pt 6):1456-64. doi: 10.1093/brain/awm018. Epub 2007 Mar 12. Brain. 2007. PMID: 17353225 Review. - Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?
Ma S, Davis TL, Blair MA, Fang JY, Bradford Y, Haines JL, Hedera P. Ma S, et al. Mov Disord. 2006 Sep;21(9):1368-74. doi: 10.1002/mds.20950. Mov Disord. 2006. PMID: 16721753 - Epidemiology and genetics of essential tremor.
Findley LJ. Findley LJ. Neurology. 2000;54(11 Suppl 4):S8-S13. Neurology. 2000. PMID: 10854346 Review.
Cited by
- Autosomal dominant essential tremor: a novel family with anticipation.
Pasini E, Busolin G, Nobile C, Michelucci R. Pasini E, et al. Neurol Sci. 2013 May;34(5):761-3. doi: 10.1007/s10072-012-1216-5. Epub 2012 Oct 13. Neurol Sci. 2013. PMID: 23064782 - 'Essential tremor' or 'the essential tremors': is this one disease or a family of diseases?
Louis ED. Louis ED. Neuroepidemiology. 2014;42(2):81-9. doi: 10.1159/000356351. Epub 2013 Dec 3. Neuroepidemiology. 2014. PMID: 24335621 Free PMC article. Review. - What's in a Name? Nomenclature of essential tremor: Syndrome or family of diseases?
Louis ED, Kuo SH. Louis ED, et al. Int Rev Neurobiol. 2022;163:1-5. doi: 10.1016/S0074-7742(22)00044-7. Epub 2022 Jun 21. Int Rev Neurobiol. 2022. PMID: 36185589 Free PMC article. No abstract available. - Is there a one-way street from essential tremor to Parkinson's disease? Possible biological ramifications.
Louis ED, Ottman R. Louis ED, et al. Eur J Neurol. 2013 Nov;20(11):1440-4. doi: 10.1111/ene.12256. Epub 2013 Sep 12. Eur J Neurol. 2013. PMID: 24033795 Free PMC article. Review. - Environmental epidemiology of essential tremor.
Louis ED. Louis ED. Neuroepidemiology. 2008;31(3):139-49. doi: 10.1159/000151523. Epub 2008 Aug 21. Neuroepidemiology. 2008. PMID: 18716411 Free PMC article. Review.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources