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The rs2228570 Variant of the Vitamin D Receptor Gene is Associated with Essential Tremor 被引量:2

The rs2228570 Variant of the Vitamin D Receptor Gene is Associated with Essential Tremor
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摘要 Dear Editor,Essential tremor(ET)is one of the most common movement disorders of unknown etiology[1,2],having an overall prevalence of 4%in the general population[2].The age at onset has been reported to be between 15 years and 20 years,and penetrance to be complete at between50 years and 70 years.It seems to be a progressive neurological disorder,and can lead to substantial disability in some patients.Although it presents some degree of clinical variability,it occurs in sporadic(SET)and familial(FET)forms with heterogeneity of expression between and within families[3].ET is characterized essentially by a postural and kinetic tremor most often affecting the arms,but it can also affect other parts of the body[4].Nonetheless,familial expression of ET has been linked to some loci[5–7].
出处 《Neuroscience Bulletin》 SCIE CAS CSCD 2019年第2期362-364,共3页 神经科学通报(英文版)
关键词 VDR CI
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  • 2Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995, 375: 754-760.
  • 3Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991, 349: 704-706.
  • 4Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 1995, 269: 973-977.
  • 5Rogaev El, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 1995, 376: 775-778.
  • 6Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, et al. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet 1999, 65: 664-670.
  • 7Tanzi RE. A genetic dichotomy model for the inheritance of Alzheimer's disease and common age-related disorders. J Clin Invest 1999, 104:1175-1179.
  • 8Gatz M, Reynolds CA, Fratiglioni L, Johansson B, Mortimer JA, Berg S, et al. Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry 2006, 63: 168-174.
  • 9Coon KD, Myers AJ, Craig DW, Webster JA, Pearson JV, Lince DH, et al. A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. J Clin Psychiatry 2007, 68: 613-618.
  • 10Strittmatter WJ, Saunders AM, Schmechel D, Pericak-Vance M, Enghild J, Salvesen GS, et al. Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci USA 1993, 90: 1977-1981.

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