Oliveri R L, Zappia M, Annesi G, Bosco D, Annesi F, Spadafora P, Pasqua A A, Tomaino C, Nicoletti G, Pirritano D, Labate A, Gambardella A, Logroscino G, Manobianca G, Epifanio A, Morgante L, Savettieri G, Quattrone A
Institute of Neurology, University of Catanzaro, Italy.
Neurology. 2001 Jul 24;57(2):359-62. doi: 10.1212/wnl.57.2.359.
Mutations in the parkin gene have been reported in patients with early onset PD. The authors investigated the parkin gene in 118 patients who had an onset of PD after age 45 years: 95 subjects were sporadic patients and 23 subjects were from 18 families with a probable autosomal recessive inheritance. No pathogenetic mutations in the parkin gene were detected either in familial or in sporadic patients. Moreover, no differences were found between patients and 100 age-matched normal controls in the allele and genotype frequencies of four exonic parkin polymorphisms.
早发性帕金森病(PD)患者中已报道有帕金森基因(parkin gene)的突变。作者对118例45岁以后发病的PD患者的帕金森基因进行了研究:95例为散发性患者,23例来自18个可能为常染色体隐性遗传的家族。在家族性和散发性患者中均未检测到帕金森基因的致病突变。此外,在患者与100名年龄匹配的正常对照之间,帕金森基因四个外显子多态性的等位基因和基因型频率未发现差异。