Alzheimer's Disease and other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
J Alzheimers Dis. 2012;28(2):303-8. doi: 10.3233/JAD-2011-110911.
AβPP locus duplications have been recently identified in early-onset Alzheimer's disease. We describe a patient who initiated memory problems and behavioral disturbances at 57 years, with a progressive cognitive decline, who died at the age of 68 years with dementia. Neuropathological examination revealed a temporobasal hemorrhage, extensive Alzheimer-type pathology, and severe cerebral amyloid angiopathy. We observed a chromosomal 21 region duplication spanning 0.59 Mb, which comprised JAM2, ATP5J, GABPA, and AβPP genes. We propose a replication based mutational mechanism (single Fork-Stalling and Template-Switching) or a recombination based one (non-homologous end-joining repair) for the AβPP locus duplication in this case.
AβPP 基因座的重复最近在早发性阿尔茨海默病中被发现。我们描述了一位患者，他在 57 岁时开始出现记忆问题和行为障碍，认知能力逐渐下降，最终在 68 岁时死于痴呆。神经病理学检查显示颞叶基底出血、广泛的阿尔茨海默病样病理学和严重的脑淀粉样血管病。我们观察到一个跨越 0.59Mb 的染色体 21 区域重复，其中包括 JAM2、ATP5J、GABPA 和 AβPP 基因。我们提出了一个基于复制的突变机制（单叉停顿和模板转换）或基于重组的机制（非同源末端连接修复）来解释该病例中 AβPP 基因座的重复。
