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

Parastoo Momeni*, Nigel J. Cairns, Robert H. Perry, Eileen H. Bigio, Marla Gearing, Andrew B. Singleton, John Hardy

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)778.e1-778.e6
JournalNeurobiology of Aging
Volume27
Issue number5
DOIs
StatePublished - May 2006

Keywords

  • Frontotemporal dementia
  • Mutation analysis
  • NUDEL
  • Neural aggregates
  • Neurofilament heavy chain (NFH)
  • Neurofilament light chain (NFL)
  • Neurofilament medium chain (NFM)
  • Super oxide dismutase 1 (SOD1)
  • α-Internexin

ASJC Scopus subject areas

  • Neuroscience(all)
  • Aging
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

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