FUS‐immunoreactive inclusions are a common feature in sporadic and non‐SOD1 familial amyotrophic lateral sclerosis

摘要: Objective: Amyotrophic lateral sclerosis (ALS) is a fatal disorder of motor neuron degeneration. Most cases ALS are sporadic (SALS), but about 5 to 10% familial (FALS). Recent studies have shown that mutations in FUS causal approximately 4 5% FALS and some apparent SALS cases. The pathogenic mechanism the mutant FUS-mediated potential roles non-FUS remain be investigated. Methods: Immunostaining was performed on postmortem spinal cords from 78 cases, including (n 52), with dementia (ALS/dementia, n 10), 16). In addition, brains or 22 without frontotemporal lobar degeneration were also studied. total, 100 Results: FUS-immunoreactive inclusions observed anterior horn neurons all except for those SOD1 mutations. FUS-containing immunoreactive antibodies TDP43, p62, ubiquitin. A fraction tested recognized inclusions, specific antigen retrieval protocol appeared important detection skein-like inclusions. Interpretation: Although account only small SALS, our data suggest protein may common component cellular non-SOD1 other neurodegenerative conditions, implying shared pathway underlying FALS, ALS/ dementia, related disorders. Our indicate SOD1-linked distinct types FALS. ANN NEUROL 2010;67:739 –748