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

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• 作者：Parastoo Momeni ; Nigel J. Cairns ; Robert H. Perry ; Eileen H. Bigio ; Marla Gearing ; Andrew B. Singleton and John Hardy
• 关键词：Frontotemporal dementia ; Neural aggregates ; Mutation analysis ; Neurofilament light chain (NFL) ; Neurofilament medium chain (NFM) ; Neurofilament heavy chain (NFH) ; Super oxide dismutase 1 (SOD1) ; α ; -Internexin ; NUDEL
• 刊名：Neurobiology of Aging
• 出版年：2006
• 出版时间：May 2006
• 年：2006
• 卷：27
• 期：5
• 页码：778.e1-778.e6
• 全文大小：142 K

文摘

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