Cairns Nigel J, Perry Robert H, Jaros Evelyn, Burn David, McKeith Ian G, Lowe James S, Holton Janice, Rossor Martin N, Skullerud Kari, Duyckaerts Charles, Cruz-Sanchez Felix F, Lantos Peter L
Center for Neurodegenerative Disease Research, University of Pennsylvania School of Medicine, Philadelphia 19104-4283, USA.
Neurosci Lett. 2003 May 8;341(3):177-80. doi: 10.1016/s0304-3940(03)00100-9.
We report a new disease, dementia with neurofilament inclusions, characterized clinically by early-onset dementia with frontal lobe signs, focal atrophy of the frontal and temporal lobes, and microscopically by the presence in many brain regions of intraneuronal, cytoplasmic, neurofilament inclusions. The neuronal inclusions are immunoreactive to all three molecular weight neurofilament subunits: heavy (NF-H), light, and medium subunits, including the phosphorylated and non-phosphorylated forms of NF-H. Prion protein and beta-amyloid deposits were absent. The inclusions do not contain tau or alpha-synuclein protein aggregates known to characterize many neurodegenerative disorders. In addition to delineating a new disease entity, the identification of intraneuronal, cytoplasmic, neurofilament inclusions extends the molecular classification of neurodegenerative diseases and implicates new mechanisms of neurodegeneration in diseases affecting the human brain.
我们报告了一种新疾病——伴有神经丝包涵体的痴呆症，其临床特征为早发性痴呆伴额叶体征、额叶和颞叶局灶性萎缩，显微镜下表现为许多脑区存在神经元内、细胞质神经丝包涵体。这些神经元包涵体对所有三种分子量的神经丝亚基均有免疫反应：重链（NF-H）、轻链和中链亚基，包括磷酸化和非磷酸化形式的NF-H。不存在朊病毒蛋白和β-淀粉样蛋白沉积。这些包涵体不包含已知为许多神经退行性疾病特征的tau或α-突触核蛋白聚集体。除了明确一种新的疾病实体外，神经元内、细胞质神经丝包涵体的鉴定扩展了神经退行性疾病的分子分类，并暗示了影响人类大脑疾病中神经退行性变的新机制。
