Navarro Eloisa, De Andrés Clara, Guerrero Carmen, Giménez-Roldán Santiago
Department of Neurology Hospital General Universitario Gregorio Marañón Madrid Spain.
Brain Bank, Alcorcón Foundation Alcorcón, Madrid Spain.
Mov Disord Clin Pract. 2015 Jul 25;2(4):388-394. doi: 10.1002/mdc3.12212. eCollection 2015 Dec.
Alzheimer's disease (AD) is the second-most frequent cause underlying corticobasal syndrome (CBS). However, a reliable diagnosis using clinical, neuropsychological, or neuroimaging approaches has not yet been achieved.
Clinical, neuropsychological, imaging, and neuropathology studies were undertaken in a large Spanish family with early-onset familial AD (EOFAD) carrying a Met233Leu mutation linked to presenilin-1 gene (PSEN-1).
Two of three examined members of this family presented with the usual amnestic pattern. At the age of 47 years, a third family member, in whom pathology was later confirmed, developed prominent CBS combined with severe neuropsychiatric and behavioral disturbances resembling those often found in EOFAD.
Although CBS in EOFAD appears to be rare, demonstration of a linkage to PSEN-1 gene mutations may permit in vivo diagnosis.
阿尔茨海默病（AD）是皮质基底节综合征（CBS）的第二大常见病因。然而，尚未通过临床、神经心理学或神经影像学方法实现可靠诊断。
对一个携带与早老素-1基因（PSEN-1）相关的Met233Leu突变的早发性家族性AD（EOFAD）的西班牙大家族进行了临床、神经心理学、影像学和神经病理学研究。
该家族三名受检成员中的两名表现出常见的遗忘模式。第三名家族成员在47岁时出现了明显的CBS，并伴有严重的神经精神和行为障碍，类似于EOFAD中常见的症状，其病理学后来得到证实。
尽管EOFAD中的CBS似乎很少见，但与PSEN-1基因突变的关联证明可能允许进行体内诊断。
