Mutation analysis of patients with neuronal intermediate filament inclusion disease (NIFID).
Abnormal neuronal aggregates of alpha-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.
Momeni
Parastoo
P
Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, Building 35 Room 1A1010 35 Convent Drive, Bethesda, MD 20892, USA. momeni@mail.nih.gov
Cairns
Nigel J
NJ
Perry
Robert H
RH
Bigio
Eileen H
EH
Gearing
Marla
M
Singleton
Andrew B
AB
Hardy
John
J
D000328:Adult; D019943:Amino Acid Substitution; D016022:Case-Control Studies; D003001:Cloning, Molecular; D004247:DNA / Q000096:biosynthesis / Q000235:genetics; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D006801:Humans; D002479:Inclusion Bodies / Q000235:genetics*; D007381:Intermediate Filament Proteins / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000453:epidemiology / Q000235:genetics*; D016900:Neurofilament Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012306:Risk; D013482:Superoxide Dismutase / Q000235:genetics; D000072105:Superoxide Dismutase-1; D006113:United Kingdom / Q000453:epidemiology; D014481:United States / Q000453:epidemiology
D017931:DNA Primers; D007381:Intermediate Filament Proteins; D016900:Neurofilament Proteins; C000606290:SOD1 protein, human; C046643:alpha-internexin; D004247:DNA; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1