Sporadic corticobasal syndrome due to FTLD-TDP

Maria Carmela Tartaglia; Manu Sidhu; Victor Laluz; Caroline Racine; Gil D. Rabinovici; Kelly Creighton; Anna Karydas; Rosa Rademakers; Eric J. Huang; Bruce L. Miller; Stephen J. DeArmond; William W. Seeley

doi:10.1007/s00401-009-0605-1

Sporadic corticobasal syndrome due to FTLD-TDP

Maria Carmela Tartaglia, Manu Sidhu, Victor Laluz, Caroline Racine, Gil D. Rabinovici, Kelly Creighton, Anna Karydas, Rosa Rademakers, Eric J. Huang, Bruce L. Miller, Stephen J. DeArmond, William W. Seeley

Neuroscience

Research output: Contribution to journal › Article › peer-review

46 Scopus citations

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.

Original language	English (US)
Pages (from-to)	365-374
Number of pages	10
Journal	Acta neuropathologica
Volume	119
Issue number	3
DOIs	https://doi.org/10.1007/s00401-009-0605-1
State	Published - Mar 2010

Keywords

Corticobasal degeneration
Frontotemporal lobar degeneration
Progranulin
TDP-43

ASJC Scopus subject areas

Pathology and Forensic Medicine
Clinical Neurology
Cellular and Molecular Neuroscience

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10.1007/s00401-009-0605-1

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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.",

keywords = "Corticobasal degeneration, Frontotemporal lobar degeneration, Progranulin, TDP-43",

author = "Tartaglia, {Maria Carmela} and Manu Sidhu and Victor Laluz and Caroline Racine and Rabinovici, {Gil D.} and Kelly Creighton and Anna Karydas and Rosa Rademakers and Huang, {Eric J.} and Miller, {Bruce L.} and DeArmond, {Stephen J.} and Seeley, {William W.}",

note = "Funding Information: 43 (f) immunoreactive coiled inclusions in oligodendroglia accompanied by white matter thread pathology. Scale bars represent 100 µm in (a) and (b); 50 µm in (d) and (e) and 20 µm in (c) and (f) Acknowledgments We thank Giovanni Coppola for assistance with the progranulin mRNA analysis. This study was supported by National Institute on Aging (NIA, grants P01 AG19724-01A1, P50 AG1657303-75271). We thank the patient and her family for their generous support of neurodegeneration research.",

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doi = "10.1007/s00401-009-0605-1",

language = "English (US)",

volume = "119",

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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.

N1 - Funding Information: 43 (f) immunoreactive coiled inclusions in oligodendroglia accompanied by white matter thread pathology. Scale bars represent 100 µm in (a) and (b); 50 µm in (d) and (e) and 20 µm in (c) and (f) Acknowledgments We thank Giovanni Coppola for assistance with the progranulin mRNA analysis. This study was supported by National Institute on Aging (NIA, grants P01 AG19724-01A1, P50 AG1657303-75271). We thank the patient and her family for their generous support of neurodegeneration research.

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.

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Sporadic corticobasal syndrome due to FTLD-TDP

Abstract

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ASJC Scopus subject areas

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