Heston L L, Mastri A R
Arch Gen Psychiatry. 1977 Aug;34(8):976-81. doi: 10.1001/archpsyc.1977.01770200114017.
Relatives of probands with histologically confirmed Alzheimer's disease had excessive morbidity from Alzheimer's disease, Down's syndrome, and hematologic malignancies. These associations coupled with two previously reported ones, the indistinguishable histopathological changes in brain in Alzheimer's disease and Down's syndrome, and the 20-fold increased incidence of leukemia among persons with Down's syndrome, are evidence that some instances of those disorders are associated with a unitary genetic etiology. The genetic defect may be expressed through disorganization of microtubules. Other evidence suggests that the same process may be involved in aging and in other chromosomal aberrations.
经组织学确诊的阿尔茨海默病先证者的亲属患阿尔茨海默病、唐氏综合征和血液系统恶性肿瘤的发病率过高。这些关联以及之前报道的另外两个关联,即阿尔茨海默病和唐氏综合征在大脑中难以区分的组织病理学变化,以及唐氏综合征患者白血病发病率增加20倍,都证明这些疾病的某些病例与单一的遗传病因有关。遗传缺陷可能通过微管的紊乱表现出来。其他证据表明,相同的过程可能与衰老和其他染色体畸变有关。