Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation. (Articolo in rivista)

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  • Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation. (Articolo in rivista) (literal)
Anno
  • 2010-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1212/WNL.0b013e3181d52785 (literal)
Alternative label
  • Bruni AC;Bernardi L;Colao R;Rubino E;Smirne N;Frangipane F;Terni B;Curcio SA;Mirabelli M;Clodomiro A;Di Lorenzo R;Maletta R;Anfossi M;Gallo M;Geracitano S;Tomaino C;Muraca MG;Leotta A;Lio SG;Pinessi L;Rainero I;Sorbi S;Nee L;Milan G;Pappatà S;Postiglione A;Abbamondi N;Forloni G;St George Hyslop P;Rogaeva E;Bugiani O;Giaccone G;Foncin JF;Spillantini MG;Puccio G. (2010)
    Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation.
    in Neurology; Lippincott Williams & Wilkins, Philadelphia (Stati Uniti d'America)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Bruni AC;Bernardi L;Colao R;Rubino E;Smirne N;Frangipane F;Terni B;Curcio SA;Mirabelli M;Clodomiro A;Di Lorenzo R;Maletta R;Anfossi M;Gallo M;Geracitano S;Tomaino C;Muraca MG;Leotta A;Lio SG;Pinessi L;Rainero I;Sorbi S;Nee L;Milan G;Pappatà S;Postiglione A;Abbamondi N;Forloni G;St George Hyslop P;Rogaeva E;Bugiani O;Giaccone G;Foncin JF;Spillantini MG;Puccio G. (literal)
Pagina inizio
  • 798 (literal)
Pagina fine
  • 806 (literal)
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  • 74 (literal)
Rivista
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  • 9 (literal)
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  • 10 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • The Regional Neurogenetic Centre and Pathology Department (A.L., S.G.L.), ASP Catanzaro, Lamezia Terme (CZ); Neurology II-Department of Neuroscience (E.R., L.P., I.R.), University of Turin, Italy; Brain Repair Centre (B.T., M.G.S.), Cambridge, UK; Department of Neurological Science (S.S.), University of Florence, Italy; National Institutes of Health (L.N.), Bethesda, MD; Dementia Study Center (G.M., A.P.), Department of Clinical and Experimental Disease, University \"Federico II\" & ASL-Napoli 1, Naples; Institute of Biomaging and Biostructures (S.P.), CNR, Naples; ASL-Napoli 1 (N.A.), Naples; Department of Neurosciences (G.F.), Mario Negri Institute, Milan, Italy; Centre for Research in Neurodegenerative Diseases (P.S.G.H., E.R.), Department of Medicine, University of Toronto, Toronto, Canada; Department of Neuropathology (O.B., G.G.), Neurological Institute \"Carlo Besta,\" Milan, Italy; Laboratoire de Neurohistologie EPHE (J.F.F.), Brie Comte Robert, France. (literal)
Titolo
  • Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation. (literal)
Abstract
  • Objective: Large kindreds segregating familial Alzheimer disease (FAD) offer the opportunity of studying clinical variability as observed for presenilin 1 (PSEN1) mutations. Two early-onset FAD (EOFAD) Calabrian families with PSEN1 Met146Leu (ATG/CTG) mutation constitute a unique population descending from a remote common ancestor. Recently, several other EOFAD families with the same mutation have been described worldwide. Methods: We searched for a common founder of the PSEN1 Met146Leu mutation in families with different geographic origins by genealogic and molecular analyses. We also investigated the phenotypic variability at onset in a group of 50 patients (mean age at onset 40.0 ? 4.8 years) by clinical, neuropsychological, and molecular methodologies. Results: EOFAD Met146Leu families from around the world resulted to be related and constitute a single kindred originating from Southern Italy before the 17th century. Phenotypic variability at onset is broad: 4 different clinical presentations may be recognized, 2 classic for AD (memory deficits and spatial and temporal disorientation), whereas the others are expressions of frontal impairment. The apathetic and dysexecutive subgroups could be related to orbital-medial prefrontal cortex and dorsolateral prefrontal cortex dysfunction. Conclusions: Genealogic and molecular findings provided evidence that the PSEN1 Met146Leu families from around the world analyzed in this study are related and represent a single kindred originating from Southern Italy. The marked phenotypic variability might reflect early involvement by the pathologic process of different cortical areas. Although the clinical phenotype is quite variable, the neuropathologic and biochemical characteristics of the lesions account for neurodegenerative processes unmistakably of Alzheimer nature (literal)
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