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Laura Molina-Porcel, MD; Albert Lladó, MD; Maria Jesús Rey, MD; Jose Luis Molinuevo, MD; Maria Martinez-Lage, MD; Francesc X. Esteve, MD; Isidre Ferrer, MD; Eduardo Tolosa, MD; Rafael Blesa, MD

Arch Neurol. 2008;65(2):272-275.

Objective  To report new cases of neuronal intermediate filament inclusion disease (NIFID).

Design  Case report.

Patients  Pathologically proved NIFID was found in 2 patients from the Universitat de Barcelona–Hospital Clínic Brain Bank. The findings of a neuropathological examination in both patients revealed intracellular inclusions that were detected with hematoxylin-eosin and stained positive for antineurofilament and -internexin antibodies, variably for ubiquitin, and negatively for , -synuclein, and TAR-DNA binding protein 43.

Interventions  Medical records were retrospectively reviewed.

Results  The first patient developed progressive behavioral changes characterized by apathy and indifference at the age of 37 years, and frontotemporal dementia was diagnosed. The second patient developed progressive tremor and mild speech disturbances at the age of 70 years. Her neurological examination results showed mild dysarthria, hypomimia, a mild rigid-akinetic left-predominant parkinsonism, and bilateral rest and postural tremor. The clinical impression was atypical parkinsonism. No response was obtained with levodopa, and the disease progressed rapidly, with falls and frontal-subcortical cognitive impairment.

Conclusions  Late-onset presentation may be the clinical debut of NIFID. These 2 cases confirm the clinical and pathological heterogeneity of NIFID and suggest its inclusion in the differential diagnosis of several neurodegenerative disorders, including frontotemporal dementia and atypical parkinsonism.

Author Affiliations: Service of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona (Drs Molina-Porcel, Martinez-Lage, and Blesa), Service of Neurology, Hospital Clínic and Institut d’Investigació Biomèdica August Pi i Sunyer, Barcelona (Drs Lladó, Molinuevo, and Tolosa), Universitat de Barcelona–Hospital Clínic Brain Bank, Barcelona (Drs Rey and Ferrer), Service of Neurology, Hospital Pius de Valls, Valls (Dr Esteve), and Institut de Neuropatologia, Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona (Dr Ferrer), Spain.