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The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.
Gallo, Maura; Frangipane, Francesca; Cupidi, Chiara; De Bartolo, Matteo; Turone, Sabina; Ferrari, Camilla; Nacmias, Benedetta; Grimaldi, Giuliana; Laganà, Valentina; Colao, Rosanna; Bernardi, Livia; Anfossi, Maria; Conidi, Maria Elena; Vasso, Franca; Curcio, Sabrina Anna Maria; Mirabelli, Maria; Smirne, Nicoletta; Torchia, Giusi; Muraca, Maria Gabriella; Puccio, Gianfranco; Di Lorenzo, Raffaele; Piccininni, Maristella; Tedde, Andrea; Maletta, Raffaele Giovanni; Sorbi, Sandro; Bruni, Amalia Cecilia.
Afiliação
  • Gallo M; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • Frangipane F; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • Cupidi C; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • De Bartolo M; Neurofisiopatologia, Distretto Ionio Sud, ASP CS, Rossano (CS), Italy.
  • Turone S; Neurofisiopatologia, Distretto Ionio Sud, ASP CS, Rossano (CS), Italy.
  • Ferrari C; IRCCS Don Gnocchi, Florence, Italy; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
  • Nacmias B; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
  • Grimaldi G; Groupe de Recherche Interdisciplinaire du Mouvement, ULB, Erasme, Brussels, Belgium.
  • Laganà V; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • Colao R; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • Bernardi L; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • Anfossi M; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • Conidi ME; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • Vasso F; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • Curcio SAM; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • Mirabelli M; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • Smirne N; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • Torchia G; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • Muraca MG; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • Puccio G; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • Di Lorenzo R; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • Piccininni M; Department of Neurology, San Giovanni di Dio Hospital, USL Toscana Centro-Florence, Florence, Italy.
  • Tedde A; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
  • Maletta RG; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy.
  • Sorbi S; IRCCS Don Gnocchi, Florence, Italy; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
  • Bruni AC; Regional Neurogenetic Centre (CRN), ASP Catanzaro, Lamezia Terme, Italy. Electronic address: lab@arn.it.
Neurobiol Aging ; 56: 213.e7-213.e12, 2017 08.
Article em En | MEDLINE | ID: mdl-28532646
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cerebelo / Predisposição Genética para Doença / Paraparesia Espástica / Presenilina-1 / Estudos de Associação Genética / Função Executiva / Doença de Alzheimer / Genes Dominantes / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Neurobiol Aging Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália
Texto completo
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Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cerebelo / Predisposição Genética para Doença / Paraparesia Espástica / Presenilina-1 / Estudos de Associação Genética / Função Executiva / Doença de Alzheimer / Genes Dominantes / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Neurobiol Aging Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália