Campion D, Brice A, Dumanchin C, Puel M, Baulac M, De La Sayette V, Hannequin D, Duyckaerts C, Michon A, Martin C, Moreau V, Penet C, Martinez M, Clerget-Darpoux F, Agid Y, Frebourg T
Laboratoire de Génétique Moléculaire, CHU de Rouen, France.
Neuroreport. 1996 Jul 8;7(10):1582-4. doi: 10.1097/00001756-199607080-00009.
We have identified a novel Alzheimer's disease family in which affected subjects had a very young age of onset (range 29-35 years). Neuropathological confirmation of the diagnosis was obtained for one patient. Molecular analysis shows that within this family the disease results from a missense mutation at codon 235 of the presenilin 1 (PS-1) gene. Two patients had exhibited generalized tonico-clonic seizures several years before the onset of dementia. Whether this particular clinical feature is a consequence of the PS-1 mutation remains to be established. The Leu235Pro mutation is, to our knowledge, the PS-1 mutation associated with the youngest age of AD onset, which suggests that it has a drastic effect on PS-1 function.
我们鉴定出一个新型阿尔茨海默病家族，其中受影响的个体发病年龄非常小（范围为29 - 35岁）。对一名患者进行了神经病理学诊断确认。分子分析表明，在这个家族中，该疾病是由早老素1（PS - 1）基因第235位密码子的错义突变引起的。两名患者在痴呆症发作前数年出现了全身性强直阵挛性癫痫发作。这种特殊的临床特征是否是PS - 1突变的结果仍有待确定。据我们所知，Leu235Pro突变是与阿尔茨海默病发病年龄最小相关的PS - 1突变，这表明它对PS - 1功能有显著影响。
