TY - JOUR
T1 - Sporadic corticobasal syndrome due to FTLD-TDP
AU - Tartaglia, Maria Carmela
AU - Sidhu, Manu
AU - Laluz, Victor
AU - Racine, Caroline
AU - Rabinovici, Gil D.
AU - Creighton, Kelly
AU - Karydas, Anna
AU - Rademakers, Rosa
AU - Huang, Eric J.
AU - Miller, Bruce L.
AU - DeArmond, Stephen J.
AU - Seeley, William W.
PY - 2010/3
Y1 - 2010/3
N2 - 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.
AB - 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.
KW - Corticobasal degeneration
KW - Frontotemporal lobar degeneration
KW - Progranulin
KW - TDP-43
UR - https://www.scopus.com/pages/publications/77953027708
U2 - 10.1007/s00401-009-0605-1
DO - 10.1007/s00401-009-0605-1
M3 - Article
C2 - 19876635
AN - SCOPUS:77953027708
SN - 0001-6322
VL - 119
SP - 365
EP - 374
JO - Acta Neuropathologica
JF - Acta Neuropathologica
IS - 3
ER -