Haan J, Bakker E, Jennekens-Schinkel A, Roos R A
Department of Neurology, University Hospital Leiden, The Netherlands.
Clin Neurol Neurosurg. 1992;94(4):317-8. doi: 10.1016/0303-8467(92)90181-2.
A now 58-year-old female patient, carrier of the point-mutation in the beta-amyloid gene on chromosome 21 which causes hereditary cerebral hemorrhage with amyloidosis - Dutch type, developed progressive dementia after the age of 55 years. She never suffered from a cerebral hemorrhage. Dementia has been described as a feature of hereditary amyloid angiopathy before, but only in patients who also suffer from strokes. The clinical manifestation of the patient described here underlines the relation between the Dutch type of hereditary amyloid angiopathy and (familial) Alzheimer's disease.
一名现年58岁的女性患者,其21号染色体上的β-淀粉样蛋白基因存在点突变,该突变会导致遗传性脑出血伴淀粉样变性——荷兰型,她在55岁之后出现了进行性痴呆。她从未患过脑出血。痴呆症此前已被描述为遗传性淀粉样血管病的一个特征,但仅见于同时患有中风的患者。此处描述的患者临床表现强调了荷兰型遗传性淀粉样血管病与(家族性)阿尔茨海默病之间的关系。