Haltia M, Viitanen M, Sulkava R, Ala-Hurula V, Poyhonen M, Goldfarb L, Brown P, Levy E, Houlden H, Crook R
Department of Pathology, University of Helsinki, Finland.
Ann Neurol. 1994 Sep;36(3):362-7. doi: 10.1002/ana.410360307.
A family of Finnish descent with very-early-onset Alzheimer's disease has been identified. Genetic analysis of this family eliminated the amyloid precursor protein gene as the pathogenic locus, but strongly implicated a locus on chromosome 14q23.4 between D14S52 and D14S55. The early age at onset of the disease (average, 36 years; range, 35-39 years), the rapid progression, and the early and prominent myoclonus, while they appear to be frequent findings in the chromosome 14-encoded form of Alzheimer's disease, raised the clinical suspicion of prion disease. However, sequencing the prion gene-coding region of 2 affected members of the pedigree failed to show any abnormality. Apart from the presence of modest cortical vacuolar change, the pathological features of our index patient appeared typical of Alzheimer's disease with abundant senile plaques immunoreactive with beta-amyloid, but not with prion protein antibodies.
已鉴定出一个患有早发型阿尔茨海默病的芬兰裔家族。对该家族的基因分析排除了淀粉样前体蛋白基因作为致病位点，但强烈提示14号染色体q23.4上位于D14S52和D14S55之间的一个位点。该病的发病年龄早（平均36岁；范围35 - 39岁）、进展迅速以及早期出现且明显的肌阵挛，虽然这些似乎是14号染色体编码形式的阿尔茨海默病中的常见表现，但引发了对朊病毒病的临床怀疑。然而，对该家系中2名患病成员的朊病毒基因编码区进行测序未发现任何异常。除了存在轻度皮质空泡改变外，我们的索引患者的病理特征似乎是典型的阿尔茨海默病，有大量与β - 淀粉样蛋白免疫反应而非与朊病毒蛋白抗体免疫反应的老年斑。
