Phenotypic Variability Within the Inclusion Body Spectrum of Basophilic Inclusion Body Disease and Neuronal Intermediate Filament Inclusion Disease in Frontotemporal Lobar Degenerations With FUS-Positive Inclusions |
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Authors: | Ellen Gelpi Albert Lladó Jordi Clarimón Maria Jesús Rey Rosa Maria Rivera Mario Ezquerra Anna Antonell Judith Navarro-Otano Teresa Ribalta Gerard Piñol-Ripoll Anna Pérez Francesc Valldeoriola Isidre Ferrer |
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Affiliation: | From the Neurological Tissue Bank, Biobanc-Hospital Clínic-IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer) (EG, MJR, RMR, JN-O, TR); Alzheimer's Disease and Cognitive Disorders Unit, Neurology Service, Institut Clinic de Neurociencies, Hospital Clínic Barcelona, IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer) (AL, AA); and Genetics of Neurodegenerative Disorders Unit IIB, Sant Pau Hospital (JC), Barcelona; Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED), Madrid (JC); Movement Disorders Unit, Neurology Service, Institut Clinic de Neurociencies, Hospital Clínic Barcelona, Barcelona (ME, JN-O, FV); Neurology Service, Cognitive Disorders Unit (GP-R), and Internal Medicine Department (AP), Hospital Santa Maria de Lleida, Lleida; and Institut de Neuropatologia, Hospital Universitari de Bellvitge, Universitat de Barcelona, Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED), Barcelona (IF), Spain. |
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Abstract: | ABSTRACT: Basophilic inclusion body disease and neuronal intermediate filament inclusion disease (NIFID) are rare diseases included among frontotemporal lobar degenerations with FUS-positive inclusions (FTLD-FUS). We report clinical and pathologic features of 2 new patients and reevaluate neuropathologic characteristics of 2 previouslydescribed cases, including an early-onset case of basophilic inclusion body disease (aged 38 years) with a 5-year disease course and abundant FUS-positive inclusion bodies and 3 NIFID cases. One NIFID case (aged 37 years) presented with early-onset psychiatric disturbances and rapidly progressive cognitive decline. Two NIFID cases had later onset (aged 64 years and 70 years) and complex neurologic deficits. Postmortem neuropathologic studies in late-onset NIFID cases disclosed α-internexin-positive "hyaline conglomerate"-type inclusions that were positive with 1 commercial anti-FUS antibody directed to residues 200 and 250, but these were negative to amino acids 90 and220 of human FUS. Early-onset NIFID had similar inclusions that werepositive with both commercial anti-FUS antibodies. Genetic testing performed on all cases revealed no FUS gene mutations. These findings indicate that phenotypic variability in NIFID, including clinical manifestations and particular neuropathologic findings, may be related to the age at onset and individual differences in the evolution of lesions. |
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