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dc.contributor.author | Gatto, Emilia M. | |
dc.contributor.author | Rojas, Galeno J. | |
dc.contributor.author | Nemirovsky, Sergio I. | |
dc.contributor.author | Da Prat, Gustavo | |
dc.contributor.author | Persi, Gabriel | |
dc.contributor.author | Cesarini, Martin | |
dc.contributor.author | Etcheverry, Jose L. | |
dc.contributor.author | Gonzalez Rojas, Natalia | |
dc.contributor.author | Parisi, Virginia | |
dc.contributor.author | Cordoba, Marta | |
dc.contributor.author | Sevlever, Gustavo Emilio | |
dc.contributor.author | Allegri, Ricardo Francisco | |
dc.contributor.author | Turjanski, Adrian G. | |
dc.date.accessioned | 2020-12-10T12:29:14Z | |
dc.date.available | 2020-12-10T12:29:14Z | |
dc.date.issued | 2020-08 | |
dc.identifier.citation | Gatto, E.M., Rojas, G.J., Nemirovsky, S.I., Da Prat, G., Persi, G., Cesarini, M., Etcheverry, J.L., Rojas, N.G., Parisi, V., Cordoba, M., Sevlever, G., Allegri, R.F., Turjanski, A.G., 2020. A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism. Relat Disord 77, 21–25. https://doi.org/10.1016/j.parkreldis.2020.06.005. | en_US |
dc.identifier.uri | https://repositorio.fleni.org.ar/handle/123456789/258 | |
dc.identifier.uri | https://doi.org/10.1016/j.parkreldis.2020.06.005 | |
dc.description.abstract | Introduction: Mutations in presenilin-1 (PSEN1) account for the majority of cases of familial autosomal dominant early-onset Alzheimer's disease (AD) as well as in sporadic forms. Atypical presentations are reported including extrapyramidal signs. In the last years, a pleiotropic effect of some PSEN1 variants has been reported in Parkinson's disease (PD). Objective: to report a new PSEN1 mutation characterized by early-onset Parkinsonism (EOPD) without dementia or classical AD biomarkers phenotype. Patient and methods: An Argentinian 46 years old woman was diagnosed with EOPD at 35 years old with no family history of neurodegenerative disorders. Her medical history included iron deficiency and anemia since childhood. A brain MRI showed moderate frontal atrophy. 18FDG-PET and PiB-PET as well as CSF biomarkers were inconclusive for AD. Two neuropsychological examinations were compatible with a mild non amnestic cognitive impairment. Whole blood DNA was extracted and whole exome sequencing and analysis was performed. Results and conclusion: A heterozygous novel missense PSEN1 mutation (position 14:73637540, A > T, pArg41Ser) was identified as a likely causative mutation in this patient. To the best of our knowledge, this case is the first PSEN1 mutation with a l-dopa responsive Parkinsonism lacking distinctive classical AD biomarkers. This case opens a new window to explore the pathophysiological link among PSEN1 and EOPDs and contributes to increase the phenotypes of PSEN1 variants. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Elsevier | en_US |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.rights.uri | https://creativecommons.org/licenses/by/2.5/ar/ | |
dc.subject | Parkinson Disease | en_US |
dc.subject | Enfermedad de Parkinson | en_US |
dc.subject | Genetics | en_US |
dc.subject | Genética | en_US |
dc.title | A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism | en_US |
dc.type | info:eu-repo/semantics/publishedVersion | |
dc.type | info:eu-repo/semantics/article | en_US |
dc.description.fil | Fil: Sevlever, Gustavo Emilio. Fleni. Departamento de Neuropatología y Biología Molecular. Laboratorio de Enfermedades Neurodegenerativas (LEN); Argentina. | |
dc.description.fil | Fil: Allegri, Ricardo Francisco. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría. Centro de Memoria y Envejecimiento; Argentina. | |
dc.description.fil | Fil: Gatto, Emilia M. Sanatorio de la Trinidad Mitre. Departamento de Neurología; Argentina. | |
dc.description.fil | Fil: Rojas, Galeno J. Sanatorio de la Trinidad Mitre. Unidad de Neurociencias Cognitivas; Argentina. | |
dc.description.fil | Fil: Nemirovsky, Sergio I. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales (IQUIBICEN). Instituto de Química Biológica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. | |
dc.description.fil | Fil: Da Prat, Gustavo. Instituto de Neurociencias Buenos Aires (INEBA); Argentina. | |
dc.description.fil | Fil: Persi, Gabriel. Sanatorio de la Trinidad Mitre. Departamento de Neurología; Argentina. | |
dc.description.fil | Fil: Cesarini, Martin. Instituto de Neurociencias Buenos Aires (INEBA); Argentina. | |
dc.description.fil | Fil: Etcheverry, Jose L. Instituto de Neurociencias Buenos Aires (INEBA); Argentina. | |
dc.description.fil | Fil: Gonzalez Rojas, Natalia. Instituto de Neurociencias Buenos Aires (INEBA); Argentina. | |
dc.description.fil | Fil: Parisi, Virginia. Sanatorio de la Trinidad Mitre. Departamento de Neurología; Argentina. | |
dc.description.fil | Fil: Cordoba, Marta. SInstituto de Neurociencias Buenos Aires (INEBA); Argentina. | |
dc.description.fil | Fil: Turjanski, Adrian G. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales (IQUIBICEN). Instituto de Química Biológica; Argentina | |
dc.relation.ispartofVOLUME | 77 | |
dc.relation.ispartofPAGINATION | 21-25. | |
dc.relation.ispartofCOUNTRY | Estados Unidos | |
dc.relation.ispartofCITY | Nueva York | |
dc.relation.ispartofTITLE | Parkinsonism & related disorders | |
dc.relation.ispartofISSN | 1873-5126 | |
dc.type.snrd | info:ar-repo/semantics/artículo | es_ES |