CHROMOSOME 14-ENCODED ALZHEIMERS-DISEASE - GENETIC AND CLINICOPATHOLOGICAL DESCRIPTION
CHROMOSOME 14-ENCODED ALZHEIMERS-DISEASE - GENETIC AND CLINICOPATHOLOGICAL DESCRIPTION
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DOI：
10.1002/ana.410360307
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发表时间：
1994-09-01
影响因子：
11.2
通讯作者：
HARDY, J
中科院分区：
文献类型：
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作者：
HALTIA, M;VIITANEN, M;HARDY, J
一个芬兰血统的家庭已被发现患有极早发性阿尔茨海默病。该家族的遗传分析排除了淀粉样蛋白前体蛋白基因作为致病位点，但强烈暗示染色体14q23.4上D14S52和D14S55之间的位点。该病发病年龄较早（平均 36 岁；范围为 35-39 岁）、进展迅速、早期且明显的肌阵挛，虽然这些似乎是 14 号染色体编码的阿尔茨海默病的常见发现，但引起了临床对朊病毒病的怀疑。然而，对家系中两名受影响成员的朊病毒基因编码区进行测序，未能显示任何异常。除了存在适度的皮质空泡变化外，我们的索引患者的病理特征似乎是典型的阿尔茨海默氏病，具有丰富的老年斑，与β-淀粉样蛋白发生免疫反应，但不与朊病毒蛋白抗体发生免疫反应。
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.