HS1-BP3 gene variant is common in familial essential tremor

Movement Disorders

Volumn 21, Issue 3, 2006, Pages 306-309

  Higgins, Joseph J ^a   Lombardi, Roni Q ^a   Pucilowska, Joanna ^a   Jankovic, Joseph ^b   Golbe, Lawrence I ^c   Verhagen, Leo ^d  

^a Mid Hudson Family Health Institute   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^d RUSH UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

14 3 3 proteins; Chromosomes; Essential tremor; Human; Missense; Mutation; Pair 2; Parkinson disease

Indexed keywords

AMINO ACID; CATECHOLAMINE; CYTOSINE; GENE PRODUCT; GUANINE; HEMATOPOIETIC SPECIFIC PROTEIN 1 BINDING PROTEIN 3; PROTEIN HS1 BP3; SEROTONIN; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CATECHOLAMINE METABOLISM; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DOMINANT INHERITANCE; ESSENTIAL TREMOR; EXON; FAMILY STUDY; FEMALE; GENE FREQUENCY; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INDIVIDUALITY; MAJOR CLINICAL STUDY; MALE; MUTANT; NUCLEOTIDE SEQUENCE; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REGULATORY MECHANISM; RESTRICTION MAPPING; SEROTONIN METABOLISM; UNITED STATES; WILD TYPE;

AGED; AGED, 80 AND OVER; CHROMOSOMES, HUMAN, PAIR 2; DNA PRIMERS; ESSENTIAL TREMOR; EXONS; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; POSTURE; VARIATION (GENETICS);

EID: 33645538411     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.20692     Document Type: Article

References (39)

1. Louis ED, Ottman R, Hauser WA. How common is the most common adult movement disorder? estimates of the prevalence of essential tremor throughout the world. Mov Disord 1998;13:5-10.
2. Lyons KE, Pahwa R, Comella CL, et al. Benefits and risks of pharmacological treatments for essential tremor. Drug Saf 2003; 26:461-481.
3. Rajput AH, Rozdilsky B, Ang L, Rajput A. Clinicopathologic observations in essential tremor: report of six cases. Neurology 1991;41:1422-1424.
4. Louis ED, Ottman R. How familial is familial tremor? The genetic epidemiology of essential tremor. Neurology 1996;46:1200-1205.
5. Pagan FL, Butman JA, Dambrosia JM, Hallett M. Evaluation of essential tremor with multi-voxel magnetic resonance spectroscopy. Neurology 2003;60:1344-1347.
6. Jankovic J. Essential tremor: a heterogenous disorder. Mov Disord 2002;17:638-644.
7. Geraghty JJ, Jankovic J, Zetusky WJ. Association between essential tremor and Parkinson's disease. Ann Neurol 1985;17:329-333.
8. Jankovic J, Beach J, Schwartz K, Contant C. Tremor and longevity in relatives of patients with Parkinson's disease, essential tremor, and control subjects. Neurology 1995;45:645-648.
9. Yahr MD, Orosz D, Purohit DP. Co-occurrence of essential tremor and Parkinson's disease: clinical study of a large kindred with autopsy findings. Parkinsonism Relat Disord 2003;9:225-231.
10. Lorenz D, Frederiksen H, Moises H, Kopper F, Deuschl G, Christensen K. High concordance for essential tremor in monozygotic twins of old age. Neurology 2004;62:208-211.
11. Tanner CM, Goldman SM, Lyons KE, et al. Essential tremor in twins: an assessment of genetic vs environmental determinants of etiology. Neurology 2001;57:1389-1391.
12. Gulcher JR, Jonsson P, Kong A, et al. Mapping of a familial essential tremor gene, FET1, to chromosome 3q13. Nat Genet 1997;17:84-87.
13. Illarioshkin SN, Rakhmonov RA, Ivanova-Smolenskaia IA, et al. [Molecular genetic analysis of essential tremor]. Genetika 2002; 38:1704-1709.
14. Higgins JJ, Pho LT, Nee LE. A gene (ETM) for essential tremor maps to chromosome 2p22-p25. Mov Disord 1997;12:859-864.
15. Higgins JJ, Loveless JM, Jankovic J, Patel PI. Evidence that a gene for essential tremor maps to chromosome 2p in four families. Mov Disord 1998;13:972-977.
16. Kovach MJ, Ruiz J, Kimonis K, et al. Genetic heterogeneity in autosomal dominant essential tremor. Genet Med 2001;3:197-199.
17. Illarioshkin SN, Ivanova-Smolenskaya IA, Rahmonov RA, et al. Clinical and genetic study of familial essential tremor in an isolate of northern Tajikistan. Mov Disord 2000;15:1020-1023.
18. Abbruzzese G, Pigullo S, Di Maria E, et al. Clinical and genetic study of essential tremor in the Italian population. Neurol Sci 2001;22:39-40.
19. Higgins JJ, Jankovic J, Lombardi RQ, et al. Haplotype analysis of the ETM2 locus in familial essential tremor. Neurogenetics 2003; 4:185-189.
20. Higgins JJ, Lombardi RQ, Tan EK, et al. Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor. Clin Genet 2004;66:353-357.
21. Higgins JJ, Lombardi RQ, Pucilowska J, Ruszczyk MU. Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3-p24.2. Am J Med Genet 2004;127B:128-130.
22. Higgins JJ, Lombardi RQ, Pucilowska J, et al. A variant in the HS1-BP3 gene is associated with familial essential tremor. Neurology 2005;64:417-421.
23. Malaspina A, Kaushik N, de Belleroche J. A 14-3-3 mRNA is up-regulated in amyotrophic lateral sclerosis spinal cord. J Neurochem 2000;75:2511-2520.
24. Swanson KD, Dhar MS, Joshi JG. The human and bovine 14-3-3 eta protein mRNAs are highly conserved in both their translated and untranslated regions. Biochim Biophys Acta 1993;1216:145-148.
25. Toyooka K, Muratake T, Tanaka T, et al. 14-3-3 protein eta chain gene (YWHAH) polymorphism and its genetic association with schizophrenia. Am J Med Genet 1999;88:164-167.
26. Watanabe M, Isobe T, Ichimura T, et al. Developmental regulation of neuronal expression for the eta subtype of the 14-3-3 protein, a putative regulatory protein for protein kinase C. Brain Res Dev Brain Res 1993;73:225-235.
27. Ichimura T, Isobe T, Okuyama T, Yamauchi T, Fujisawa H. Brain 14-3-3 protein is an activator protein that activates tryptophan 5-monooxygenase and tyrosine 3-monooxygenase in the presence of Ca2+ calmodulin-dependent protein kinase II. FEBS Lett 1987; 219:79-82.
28. Ichimura T, Isobe T, Okuyama T, et al. Molecular cloning of cDNA coding for brain-specific 14-3-3 protein, a protein kinase-dependent activator of tyrosine and tryptophan hydroxylases. Proc Natl Acad Sci U S A 1988;85:7084-7088.
29. Jankovic J. Essential tremor: clinical characteristics. Neurology 2000;54:S21-S25.
30. Findley LJ, Koller WC. Definitions and behavior classifications. In: Findley LJ, Koller WC, editors. Handbook of tremor disorders. New York: Marcel Dekker; 1994. p 1-5.
31. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992;55:181-184.
32. Parkinson J. An essay on the shaking palsy. London: Sherwood, Neely, and Jones; 1817.
33. Dana CL. Hereditary tremor, hitherto undescribed form of motor neurosis. Am J Med Sci 1887;94:386-393.
34. Chouinard S, Louis ED, Fahn S. Agreement among movement disorder specialists on the clinical diagnosis of essential tremor. Mov Disord 1997;12:973-976.
35. Feany MB. New genetic insights into Parkinson's disease. N Engl J Med 2004;351:1937-1940.
36. Koller WC, Hristova A, Brin M. Pharmacologic treatment of essential tremor. Neurology 2000;54:S30-S38.
37. Takemoto Y, Furuta M, Sato M, Kubo M, Hashimoto Y. Isolation and characterization of a novel HS1 SH3 domain binding protein, HS1BP3. Int Immunol 1999;11:1957-1964.
38. Cotzias GC, Van Woert MH, Schiffer LM. Aromatic amino acids and modification of parkinsonism. N Engl J Med 1967;276:374-379.
39. Cotzias GC, Papavasiliou PS, Gellene R. L-dopa in Parkinson's syndrome. N Engl J Med 1969;281:272.