| dc.creator | Gatto, Emilia Mabel | |
| dc.creator | Allegri, Ricardo Francisco | |
| dc.creator | Da Prat, Gustavo A. | |
| dc.creator | Chrem Méndez, Patricio | |
| dc.creator | Hanna, David S. | |
| dc.creator | Dorschner, Michael O. | |
| dc.creator | Surace, Ezequiel I. | |
| dc.creator | Zabetian, Cyrus P. | |
| dc.creator | Fernandez Mata, Ignácio | |
| dc.date | 2018-11-26T13:34:21Z | |
| dc.date | 2018-11-26T13:34:21Z | |
| dc.date | 2017-02-02 | |
| dc.date.accessioned | 2023-10-03T19:43:15Z | |
| dc.date.available | 2023-10-03T19:43:15Z | |
| dc.identifier | 01974580 | |
| dc.identifier | http://hdl.handle.net/11323/1826 | |
| dc.identifier | doi: 10.1016/j.neurobiolaging.2017.02.002. | |
| dc.identifier | Corporación Universidad de la Costa | |
| dc.identifier | REDICUC - Repositorio CUC | |
| dc.identifier | https://repositorio.cuc.edu.co/ | |
| dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/9171749 | |
| 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.format | application/pdf | |
| dc.language | eng | |
| dc.publisher | Neurobiology of Aging | |
| dc.rights | Atribución – No comercial – Compartir igual | |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.rights | http://purl.org/coar/access_right/c_abf2 | |
| dc.subject | CBS | |
| dc.subject | Cognition | |
| dc.subject | FTD | |
| dc.subject | MAPT | |
| dc.subject | P301L | |
| 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 | Artículo de revista | |
| dc.type | http://purl.org/coar/resource_type/c_6501 | |
| dc.type | Text | |
| dc.type | info:eu-repo/semantics/article | |
| dc.type | info:eu-repo/semantics/publishedVersion | |
| dc.type | http://purl.org/redcol/resource_type/ART | |
| dc.type | info:eu-repo/semantics/acceptedVersion | |
| dc.type | http://purl.org/coar/version/c_ab4af688f83e57aa | |
