Dürr A, Dodé C, Hahn V, Pêcheux C, Pillon B, Feingold J, Kaplan J C, Agid Y, Brice A
INSERM U. 289, Hôpital de la SalpEtrière, Paris, France.
J Neurol Sci. 1995 Mar;129(1):51-5. doi: 10.1016/0022-510x(94)00250-r.
The diagnosis of Huntington's disease (HD) in patients with progressive chorea and mental impairment, but without similarly affected relatives, remains uncertain and impedes genetic counseling. Twenty patients with suspected HD, but with no family history of the disease underwent molecular analysis of the CAG repeat in the IT15 gene for HD. Eighteen patients displayed the HD expanded allele and two had CAG repeats in the normal range. Neuropsychological tests could be performed in 12 of the 20 patients. Of these 10 with the expanded allele presented the deficits typical of HD, but not the two patients without the HD mutation. This study shows that a neuropsychological pattern is specific to patients with the expanded CAG and that most isolated patients with suspected HD are in fact affected.
对于患有进行性舞蹈症和精神障碍但无类似患病亲属的患者，亨廷顿舞蹈病（HD）的诊断仍不明确，这妨碍了遗传咨询。20例疑似HD但无家族病史的患者接受了IT15基因中HD的CAG重复序列的分子分析。18例患者显示出HD扩展等位基因，2例患者的CAG重复序列在正常范围内。20例患者中有12例可进行神经心理学测试。在这12例中，10例具有扩展等位基因的患者表现出HD典型的缺陷，但2例无HD突变的患者未出现这些缺陷。这项研究表明，神经心理学模式对于具有扩展CAG的患者具有特异性，并且大多数疑似HD的散发病例实际上确实患病。
