Lyoo Chul Hyoung, Cho Hanna, Choi Jae Yong, Hwang Mi Song, Hong Sang Kyoon, Kim Yun Joong, Ryu Young Hoon, Lee Myung Sik
Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Department of Nuclear Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
J Alzheimers Dis. 2016;51(3):671-5. doi: 10.3233/JAD-151052.
We studied topographic distribution of tau and amyloid-β in a patient with variant Alzheimer's disease with spastic paraparesis (VarAD) by comparing AD patients. The proband developed progressive memory impairment, dysarthria, and spastic paraparesis at age 23. Heterozygous missense mutation (L166P) was found in exon 6 of presenilin-1 gene. The proband showed prominently increased amyloid binding in striatum and cerebellum and asymmetrical tau binding in the primary sensorimotor cortex contralateral to the side more affected by spasticity. We suspect that upper motor neuron dysfunctions may be attributed to excessive abnormal tau accumulation rather than amyloid-β in the primary motor cortex.
我们通过比较阿尔茨海默病（AD）患者，研究了一名患有痉挛性截瘫的变异型阿尔茨海默病（VarAD）患者中tau蛋白和β淀粉样蛋白的地形分布。该先证者在23岁时出现进行性记忆障碍、构音障碍和痉挛性截瘫。在早老素-1基因的第6外显子中发现了杂合错义突变（L166P）。先证者在纹状体和小脑中的淀粉样蛋白结合显著增加，在与痉挛更严重一侧对侧的初级感觉运动皮层中tau蛋白结合不对称。我们怀疑上运动神经元功能障碍可能归因于初级运动皮层中tau蛋白异常过度积累，而非β淀粉样蛋白。
