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

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. Ob...

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Veröffentlicht in:	Movement disorders 1997-11, Vol.12 (6), p.859-864
Hauptverfasser:	Higgins, Joseph J., Pho, Lana T., Nee, Linda E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Biological and medical sciences Child Chromosome Aberrations - genetics Chromosome Disorders Chromosomes, Human, Pair 2 - genetics Czech Republic - ethnology Essential tremor Genetic Linkage - genetics Haplotypes - genetics Human chromosome 2p Humans Linkage analysis Medical sciences Middle Aged Nervous system (semeiology, syndromes) Nervous system as a whole Neurology Pedigree Phenotype Severity of Illness Index Tremor - diagnosis Tremor - genetics Trinucleotide Repeats - genetics United States X Chromosome
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Beschreibung
Zusammenfassung:	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.
ISSN:	0885-3185 1531-8257
DOI:	10.1002/mds.870120605