Haplotype analysis of the ETM2 locus in familial essential tremor

Neurogenetics

Volumn 4, Issue 4, 2003, Pages 185-189

  Higgins, Joseph J ^a   Jankovic, Joseph ^b   Lombardi, Roni Q ^a   Pucilowska, Joanna ^a   Tan, Eng King ^c   Ashizawa, Tetsuo ^d   Ruszczyk, Melanie U ^a  

^a Mid Hudson Family Health Institute   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c SINGAPORE GENERAL HOSPITAL   (Singapore)

^d University of Texas Medical Branch School of Medicine   (United States)

Author keywords

Essential tremor; Genetic markers; Haplotypes; Human chromosomes; Linkage disequilibrium; Pair 2

Indexed keywords

DINUCLEOTIDE; GENE PRODUCT;

ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 2P; CHROMOSOME SEGREGATION; CONTROLLED STUDY; DISEASE ASSOCIATION; ESSENTIAL TREMOR; ETM2 GENE; FAMILY HISTORY; FEMALE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC MARKER; GENETIC RECOMBINATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOTOR DYSFUNCTION; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION;

AGED; AGED, 80 AND OVER; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; ESSENTIAL TREMOR; FEMALE; GENE FREQUENCY; GENETIC MARKERS; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED;

EID: 0141568958     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-003-0151-2     Document Type: Article

References (22)

1. Louis ED, Ottman R, Hauser WA (1998) How common is the most common adult movement disorder? Estimates of the prevalence of essential tremor throughout the world. Mov Disord 13:5-10
2. Louis ED, Ottman R (1996) How familial is familial tremor? The genetic epidemiology of essential tremor. Neurology 46:1200-1205
3. Bain PG, Findley LJ, Thompson PD, Gresty MA, Rothwell JC, Harding AE, Marsden CD (1994) A study of hereditary essential tremor. Brain 117:805-824
4. Gerstenbrand F, Klinger D, Pfeiffer B (1982) Der essentialle tremor phanomenologie und epidemiologie. Nervenartz 53:46-53
5. Lou J-S, Jankovic J (1991) Essential tremor: clinical correlates in 350 patients. Neurology 41:234-238
6. Busenbark K, Bames P, Lyons K, Ince D, Villagra F, Koller WC (1996) Accuracy of reported histories of essential tremor. Neurology 47:264-265
7. Jankovic J, Beach J, Pandolfo M, Patel PI (1997) Familial essential tremor in 4 kindreds: prospects for genetic mapping. Arch Neurol 54:289-294
8. Farrer M, Gwinn-Hardy K, Muenter M, DeVrieze FW, Crook R, Perez-Tur J, Lincoln S, Maraganore D, Adler C, Newman S, MacElwee K, McCarthy P, Miller C, Waters C, Hardy J (1998) A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Hum Mol Genet 8:81-85
9. Higgins JJ, Pho LT, Nee LE (1997) A gene (ETM) for essential tremor maps to chromosome 2p22-p25. Mov Disord 12:859-864
10. Higgins JJ, Loveless JM, Jankovic J, Patel PI (1998) Evidence that a gene for essential tremor maps to chromosome 2p in four families. Mov Disord 13:972-977
11. Gulcher JR, Jonsson P, Kong A, Kristjansson K, Frigge ML, Karason A, Einarsdottir IE, Stefansson H: Einarsdottir AS, Sigurthoardottir S, Baldursson S, Bjornsdottir S, Hrafnkelsdottir SM, Jakobsson F, Benedickz J, Stefansson K (1997) Mapping of a familial essential tremor gene FET1 to chromosome 3q13 Nat Genet 17:84-87
12. Koch HG, McClay J, Loh EW, Higuchi S, Zhao JH, Sham P, Ball D, Craig IW (2000) Allele association studies with SSR and SNP markers at known physical distances with a 1 Mb region embracing the ALDH2 locus in the Japanese demonstrated linkage disequilibrium extending up to 400 kb. Hum Mol Genet 9:2993-2999
13. Jankovic J (2000) Essential tremor: clinical characteristics. Neurology 54 [Suppl 4]:S21-S25
14. Findley LJ, Koller WC (1994) Definitions and behavioral classifications. In: Findley LJ, Koller WC (eds) Handbook of tremor disorders. Dekker, New York, pp 1-5
15. Sham PC, Curtis D (1995) Monte Carlo tests for association between disease and alleles at highly polymorphic loci. Am Hum Genet 59:97-105
16. Zhao JH, Sham PC (2002) Faster haplotype frequency estimation using unrelated subjects. Hum Hered 53:36-41
17. Xie X, Ott J (1993) Testing linkage disequilibrium between a disease gene and marker loci (abstract). Am J Hum Genet 53:1107
18. Cardon LR, Bell JI (2001) Association study designs for complex diseases. Nat Rev Genet 2:91-99
19. Shibuya AM, Yasunami M, Yoshida A (1989) Genotype of alcohol dehydrogenase and aldehyde dehydrogenase loci in Japanese with alcohol liver disease. Hum Genet 82:14-16
20. Enomoto N, Takase S, Yashura M, Takada A (1991) Acetaldehyde metabolism in different aldehyde-2 genotypes. Alcohol Clin Exp Res 15:141-144
21. Shibuya A, Yoshida A (1998) Genotypes of alcohol-metabolizing enzymes in Japanese with liver disease. Am J Hum Genet 43:744-748
22. Moffat MF, Traheme JA, Abecasis GR, Cookson WOCM (2000) Single nucleotide polymorphism and linkage disequilibrium within the TCR α/δ locus. Hum Mol Genet 7:1011-1019