Plasma progranulin levels in cortical dementia phenotypes with asymmetric perisylvian atrophy
| Autor: | E. Franco, A. Jiménez Escrig, E. Gil-Neciga, J. Pérez-Pérez, T. del Ser, M. J. Sainz, E. Gómez-Tortosa, R. Guerrero-López |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Male
Pathology medicine.medical_specialty Enzyme-Linked Immunosorbent Assay Exon Progranulins Atrophy mental disorders medicine Humans Dementia Aged Aged 80 and over Lewy body business.industry Point mutation Frontotemporal lobar degeneration medicine.disease Phenotype Neurology Mutation Intercellular Signaling Peptides and Proteins Female Neurology (clinical) Frontotemporal Lobar Degeneration business Frontotemporal dementia |
| Zdroj: | European Journal of Neurology. 20:1319-1324 |
| ISSN: | 1351-5101 |
| Popis: | Background and purpose Decreased plasma progranulin levels are a very specific marker for the diagnosis of frontotemporal lobar degeneration (FTLD) caused by mutations in the progranulin gene (GRN). A frequent neuroimaging pattern in this type of dementia is asymmetric cortical atrophy. The aim of this study was to screen for GRN-linked FTLD in cases with different cortical dementia phenotypes and asymmetric perisylvian atrophy. Methods Progranulin plasma levels were analyzed in a variety of FTLD phenotypes (n = 71), dementia of the Alzheimer type (DAT) (n = 22) and probable Lewy body dementia (n = 8), both latter groups presented with asymmetric perisylvian atrophy. A group of elderly controls (n = 29) and DAT cases with symmetric atrophy (n = 33) were also analyzed. The GRN gene was sequenced in cases with lower plasma levels. Results Four cases with clinical FTLD phenotypes and plasma levels below 70 ng/ml were found to carry different GRN mutations: M1?, C139R, a point mutation in the splice donor site of intron 3 (A89VfsX41), and a deletion in exon 9 (A303AfsX57), this latter one being a new mutation. Thirteen cases with levels between 72 and 85 ng/ml did not show pathogenic changes in the GRN gene. None of the cases with asymmetric atrophy and clinical phenotypes other than FTLD had GRN mutations. Conclusions Asymmetric perisylvian atrophy is not likely to predict progranulin-linked FTLD unless it is associated with a consistent FTLD clinical phenotype. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text