Abstract
Sporadic corticobasal syndrome (CBS) has been associated with diverse pathological substrates, but frontotemporal lobar degeneration with TDP-43 immunoreactive inclusions (FTLD-TDP) has only been linked to CBS among progranulin mutation carriers. We report the clinical, neuropsychological, imaging, genetic, and neuropathological features of GS, a patient with sporadic corticobasal syndrome. Genetic testing revealed no mutations in the microtubule associated protein tau or progranulin (PGRN) genes, but GS proved homozygous for the T allele of the rs5848 PGRN variant. Autopsy showed ubiquitin and TDP-43 pathology most similar to a pattern previously associated with PGRN mutation carriers. These findings confirm that FTLD-TDP should be included in the pathological differential diagnosis for sporadic CBS.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
MeSH terms
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Basal Ganglia Diseases / complications*
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Basal Ganglia Diseases / genetics
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Brain / pathology
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Enzyme-Linked Immunosorbent Assay
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Female
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Frontotemporal Lobar Degeneration / complications
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Frontotemporal Lobar Degeneration / genetics
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Frontotemporal Lobar Degeneration / pathology*
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Humans
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Immunohistochemistry
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Intercellular Signaling Peptides and Proteins / genetics
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Intercellular Signaling Peptides and Proteins / metabolism
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Magnetic Resonance Imaging
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Middle Aged
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Neurodegenerative Diseases / genetics
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Neurodegenerative Diseases / pathology
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Neuropsychological Tests
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Progranulins
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TDP-43 Proteinopathies / complications
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TDP-43 Proteinopathies / genetics
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TDP-43 Proteinopathies / pathology*
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tau Proteins / genetics
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tau Proteins / metabolism
Substances
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GRN protein, human
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Intercellular Signaling Peptides and Proteins
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MAPT protein, human
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Progranulins
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tau Proteins