Mutation analysis of patients with neuronal intermediate filament inclusion disease (NIFID).

摘要: Abstract Abnormal neuronal aggregates of α-internexin and the three neurofilament (NF) subunits, NFL, NFM, NFH have recently been identified as signature lesions intermediate filament (IF) inclusion disease (NIFID), a novel neurological early onset with variable clinical phenotype including frontotemporal dementia, pyramidal extrapyramidal signs. In other neurodegenerative diseases in which protein contribute to pathogenesis, mutations encoding cause hereditary variant disease. To determine molecular genetic contribution this we performed mutation analysis all type IV IF, SOD1 NUDEL genes cases NIFID unaffected control cases. We found no pathogenic variants.