Assistance Publique-Hôpitaux de Paris, Département de Neurologie, Paris, France.
Alzheimer Dis Assoc Disord. 2012 Jul-Sep;26(3):289-92. doi: 10.1097/WAD.0b013e318231e449.
Prion diseases commonly manifest with the phenotype of subacute myoclonic encephalopathy. However, genetic forms of prion disease may have prolonged evolution mimicking neurodegenerative disease. We present the clinical and neuropathological features of a family with an early and long-standing dementia manifesting with posterior cortical atrophy and related to a 120 bp insertional mutation of the prion protein gene. Two cases exhibited mixed prion and Aβ pathology. The differential diagnosis with Alzheimer disease is discussed.
朊病毒病通常表现为亚急性肌阵挛性脑病的表型。然而，朊病毒病的遗传形式可能具有类似于神经退行性疾病的长期演变。我们介绍了一个家族的临床和神经病理学特征，该家族表现为早发性和长期痴呆，伴有后部皮质萎缩，并与朊病毒蛋白基因的 120bp 插入突变有关。两个病例表现为混合朊病毒和 Aβ病理学。讨论了与阿尔茨海默病的鉴别诊断。
