Registro completo de metadatos
| Campo DC | Valor | Lengua/Idioma |
|---|---|---|
| dc.creator | Gatto, Emilia Mabel | - |
| dc.creator | Allegri, Ricardo Francisco | - |
| dc.creator | Da Prat, Gustavo | - |
| dc.creator | Chrem Mendez, Patricio Alexis | - |
| dc.creator | Hanna, David S. | - |
| dc.creator | Dorschner, Michael O. | - |
| dc.creator | Surace, Ezequiel Ignacio | - |
| dc.creator | Zabetian, Cyrus P. | - |
| dc.creator | Mata, Ignacio F. | - |
| dc.date | 2018-06-01T15:58:43Z | - |
| dc.date | 2018-06-01T15:58:43Z | - |
| dc.date | 2016-12 | - |
| dc.date | 2018-05-31T15:03:22Z | - |
| dc.date.accessioned | 2019-04-29T15:56:33Z | - |
| dc.date.available | 2019-04-29T15:56:33Z | - |
| dc.identifier | Gatto, Emilia Mabel; Allegri, Ricardo Francisco; Da Prat, Gustavo; Chrem Mendez, Patricio Alexis; Hanna, David S.; et al.; Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America; Elsevier Science Inc; Neurobiology of Aging; 53; 12-2016; 195.e11-195.e17 | - |
| dc.identifier | 0197-4580 | - |
| dc.identifier | http://hdl.handle.net/11336/46982 | - |
| dc.identifier | CONICET Digital | - |
| dc.identifier | CONICET | - |
| dc.identifier.uri | http://rodna.bn.gov.ar:8080/jspui/handle/bnmm/305848 | - |
| dc.description | Frontotemporal lobar degeneration is a neuropathological disorder that causes a variety of clinical syndromes including frontotemporal dementia (FTD), progressive supranuclear palsy, and corticobasal syndrome (CBS). FTD associated with parkinsonism occurs frequently as a result of mutations in the C9orf72 gene and also in the genes coding for the protein associated with microtubule tau (MAPT) and progranulin (GRN) on chromosome 17 (FTDP-17). Herein, we report an Argentinean family, of Basque ancestry, with an extensive family history of behavioral variant of FTD. Twenty-one members over 6 generations composed the pedigree. An extensive neurologic and neurocognitive examination was performed on 2 symptomatic individuals and 3 nonsymptomatic individuals. Two different phenotypes were identified among affected members, CBS in the proband and FTD in his brother. DNA was extracted from blood for these 5 individuals and whole-exome sequencing was performed on 3 of them followed by Sanger sequencing of candidate genes on the other 2. In both affected individuals, a missense mutation (p.P301L; rs63751273) in exon 10 of the MAPT gene (chr17q21.3) was identified. Among MAPT mutations, p.P301L is the most frequently associated to different phenotypes: (1) aggressive, symmetrical, and early-onset Parkinsonism; (2) late parkinsonism associated with FTD; and (3) progressive supranuclear palsy but only exceptionally it is reported associated to CBS. This is the first report of the occurrence of the p.P301L-MAPT mutation in South America and supports the marked phenotypic heterogeneity among members of the same family as previously reported. | - |
| dc.description | Fil: Gatto, Emilia Mabel. Fundación Mundo Sano. Instituto de Neurociencias Bs.As.; Argentina. Sanatorio de la Trinidad Mitre; Argentina | - |
| dc.description | Fil: Allegri, Ricardo Francisco. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina. Universidad de la Costa; Colombia | - |
| dc.description | Fil: Da Prat, Gustavo. Fundación Mundo Sano. Instituto de Neurociencias Bs.As.; Argentina | - |
| dc.description | Fil: Chrem Mendez, Patricio Alexis. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina | - |
| dc.description | Fil: Hanna, David S.. University of Washington; Estados Unidos | - |
| dc.description | Fil: Dorschner, Michael O.. University of Washington; Estados Unidos | - |
| dc.description | Fil: Surace, Ezequiel Ignacio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina | - |
| dc.description | Fil: Zabetian, Cyrus P.. Geriatric Research Education and Clinical Center; Estados Unidos. University of Washington; Estados Unidos | - |
| dc.description | Fil: Mata, Ignacio F.. Geriatric Research Education and Clinical Center; Estados Unidos. University of Washington; Estados Unidos | - |
| dc.format | application/pdf | - |
| dc.format | application/pdf | - |
| dc.language | eng | - |
| dc.publisher | Elsevier Science Inc | - |
| dc.relation | info:eu-repo/semantics/altIdentifier/doi/https://dx.doi.org/10.1016/j.neurobiolaging.2017.02.002 | - |
| dc.relation | info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S0197458017300374 | - |
| dc.rights | info:eu-repo/semantics/restrictedAccess | - |
| dc.rights | https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ | - |
| dc.source | reponame:CONICET Digital (CONICET) | - |
| dc.source | instname:Consejo Nacional de Investigaciones Científicas y Técnicas | - |
| dc.source | instacron:CONICET | - |
| dc.subject | CBS | - |
| dc.subject | COGNITION | - |
| dc.subject | FTD | - |
| dc.subject | MAPT | - |
| dc.subject | P301L | - |
| dc.subject | Medicina Critica y de Emergencia | - |
| dc.subject | Medicina Clínica | - |
| dc.subject | CIENCIAS MÉDICAS Y DE LA SALUD | - |
| dc.title | Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America | - |
| dc.type | info:eu-repo/semantics/article | - |
| dc.type | info:eu-repo/semantics/publishedVersion | - |
| dc.type | info:ar-repo/semantics/articulo | - |
| Aparece en las colecciones: | CONICET | |
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