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
| Autor: | María Jesús Rey, Teresa Ribalta, Judith Navarro-Otano, Mario Ezquerra, Anna Antonell, Albert Lladã, Ellen Gelpi, Francesc Valldeoriola, R. Rivera, Isidre Ferrer, Gerard Piñol-Ripoll, Anna Pérez, Jordi Clarimãn |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty DNA Mutational Analysis Intermediate Filaments Neuropathology Gene mutation Biology alpha-Internexin Frontotemporal lobar degeneration Inclusion bodies Hyaline conglomerates Pathology and Forensic Medicine Cellular and Molecular Neuroscience medicine Humans Basophilic inclusion body disease Hyaline FUS Aged Inclusion Bodies Neurons General Medicine Middle Aged medicine.disease Immunohistochemistry Neuronal intermediate filament inclusion disease Basophils Basophilic Phenotype Neurology Postmortem Changes RNA-Binding Protein FUS Female Neurology (clinical) Frontotemporal Lobar Degeneration Age of onset Frontotemporal dementia |
| Zdroj: | JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname |
| ISSN: | 1554-6578 0022-3069 |
| DOI: | 10.1097/nen.0b013e318266efb1 |
| Popis: | 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 previously described 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 alpha-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 and 220 of human FUS. Early-onset NIFID had similar inclusions that were positive 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. |
| Databáze: | OpenAIRE |
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