Mullan M, Houlden H, Crawford F, Kennedy A, Rogues P, Rossor M
Alzheimer's Disease Research Laboratories, Department of Psychiatry, University of South Florida, Tampa 33613.
Am J Med Genet. 1993 Oct 15;48(3):129-30. doi: 10.1002/ajmg.1320480303.
Age of onset is the most robust clinical feature demarcating aetiologic subtypes of familial Alzheimer's disease. It has previously been noted that early onset disease (arbitrarily below the age of 65 years) conforms to an autosomal dominant pattern of transmission. Late onset disease is generally thought to have a more complex aetiology. We present data here suggesting that early onset disease can be subdivided by genetic aetiology with which age of onset correlates. In general, those pedigrees showing linkage to the chromosome 14 locus have a mean age of onset in the forties whereas those pedigrees with an APP mutation have an age of onset in the fifties.
发病年龄是区分家族性阿尔茨海默病病因亚型的最有力临床特征。此前已经注意到,早发型疾病(人为设定为65岁以下)符合常染色体显性遗传模式。晚发型疾病通常被认为病因更为复杂。我们在此展示的数据表明,早发型疾病可根据与发病年龄相关的遗传病因进行细分。一般来说,那些显示与14号染色体位点连锁的家系发病平均年龄在40多岁,而那些带有APP突变的家系发病年龄在50多岁。