4/21/2009 Case 3: Dementia with NF inclusion/neuronal intermediate filament inclusion disease

Presented by: Dr. Libien - University Hospital SUNY HSCB

Clinical History:

Autopsy revealed only minimal frontal lobe atrophy, with normal brain weight.  Routine sections revealed many and somewhat varied eosinophilic inclusions in neuronal cytoplasm in many gray matter regions.  Early discussion suggested specific proteins stains and lysosomal staining.  Few of the usual routine stains were positive and even a ubiquitin immunostain only was positive in an occasional inclusion.  Tau and a-synuclein were not enlightening.  Many inclusions stained with neurofilament protein cocktail, and a-internexin was positive in most inclusions, including in the dentate gyrus where with H&E the inclusions were uncertain.

Diagnostic Notes:

This disease has been classified as frontotemporal lobar degeneration, intermediate filament.  It has been termed dementia with neurofilament inclusions and also neurofilament inclusion body disease.  TDP-43 was negative in this case, and when TDP-43 is negative there is a likelihood of neurofilament inclusion disease.

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