Sporadic corticobasal syndrome due to FTLD-TDP.
Acta Neuropathol
; 119(3): 365-74, 2010 Mar.
Article
in En
| MEDLINE
| ID: mdl-19876635
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Basal Ganglia Diseases
/
Frontotemporal Lobar Degeneration
/
TDP-43 Proteinopathies
Limits:
Female
/
Humans
/
Middle aged
Language:
En
Journal:
Acta Neuropathol
Year:
2010
Document type:
Article
Affiliation country: