title: Sporadic corticobasal syndrome due to FTLD-TDP.
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.
authors.affiliation: Memory and Aging Center, Department of Neurology, University of California, 1207, 350 Parnassus Ave., Ste 905, San Francisco, CA 94143-1207, USA.
authors.forename: Maria Carmela
authors.initials: MC
authors.lastname: Tartaglia
authors.forename: Manu
authors.initials: M
authors.lastname: Sidhu
authors.forename: Victor
authors.initials: V
authors.lastname: Laluz
authors.forename: Caroline
authors.initials: C
authors.lastname: Racine
authors.forename: Gil D
authors.initials: GD
authors.lastname: Rabinovici
authors.forename: Kelly
authors.initials: K
authors.lastname: Creighton
authors.forename: Anna
authors.initials: A
authors.lastname: Karydas
authors.forename: Rosa
authors.initials: R
authors.lastname: Rademakers
authors.forename: Eric J
authors.initials: EJ
authors.lastname: Huang
authors.forename: Bruce L
authors.initials: BL
authors.lastname: Miller
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: DeArmond
authors.forename: William W
authors.initials: WW
authors.lastname: Seeley
mesh_terms: D001480:Basal Ganglia Diseases / Q000150:complications* / Q000235:genetics; D001921:Brain / Q000473:pathology; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D057174:Frontotemporal Lobar Degeneration / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D019636:Neurodegenerative Diseases / Q000235:genetics / Q000473:pathology; D009483:Neuropsychological Tests; D000077153:Progranulins; D057177:TDP-43 Proteinopathies / Q000150:complications / Q000235:genetics / Q000473:pathology*; D016875:tau Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; C054369:MAPT protein, human; D000077153:Progranulins; D016875:tau Proteins