Sporadic corticobasal syndrome due to FTLD-TDP.
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.
Tartaglia
Maria Carmela
MC
Memory and Aging Center, Department of Neurology, University of California, 1207, 350 Parnassus Ave., Ste 905, San Francisco, CA 94143-1207, USA.
Sidhu
Manu
M
Laluz
Victor
V
Racine
Caroline
C
Rabinovici
Gil D
GD
Creighton
Kelly
K
Karydas
Anna
A
Rademakers
Rosa
R
Huang
Eric J
EJ
Miller
Bruce L
BL
DeArmond
Stephen J
SJ
Seeley
William W
WW
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
C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; C054369:MAPT protein, human; D000077153:Progranulins; D016875:tau Proteins