Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation
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Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation (146 visite)

Carecchio M, Picillo M, Valletta L, Elia AE, Haack TB, Cozzolino A, Vitale A, Garavaglia B, Iuso A, Bagella CF, Pappata S, Barone P, Prokisch H, Romito L, Tiranti V

Neurogenetics (ISSN: 1364-6745, 1364-6753), 2017 Jul; 18(3): 175-178.



Tipo di articolo: Journal Article,

Impact factor: 3.09, Impact factor a 5 anni: 3.095

Url: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85021729255&doi=10.1007%2fs10048-017-0518-4&partnerID=40&md5=1923db0ee520e7887d3426ce10e788ba

Parole chiave: Dystonia, Nbia, Psen1, Parkinsonism,

Affiliazioni:

*** IBB - CNR ***
Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Via L. Temolo n. 4, 20126, Milan, Italy., Department of Child Neurology, IRCCS Foundation C. Besta Neurological Institute, Via Celoria 11, 20133, Milan, Italy., Department of Medicine and Surgery, PhD Programme in Molecular and Translational Medicine, University of Milan Bicocca, Via Cadore 48, 20900, Monza, Italy., Neurodegenerative Diseases Centre (CEMAND), Department of Medicine and Surgery, Neuroscience section, University of Salerno, Via Allende, 84131, Baronissi, SA, Italy., Department of Movement Disorders, IRCCS Foundation C. Besta Neurological Institute, Via Celoria 11, 20133, Milan, Italy., Institute of Human Genetics, Technische Universitat Munchen, Trogerstrasse 32, 81675, Munich, Germany., Institute of Human Genetics, Helmholtz Zentrum Munchen, Ingolstadter Landstrasse 1, 85764, Neuherberg, Germany., Institute of Medical Genetics and Applied Genomics, University of Tubingen, Calwerstrasse 7, 72076, Tubingen, Germany., Institute of Biostructure and Bioimaging, National Research Council, Via De Amicis 95, 80145, Naples, Italy., Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Via L. Temolo n. 4, 20126, Milan, Italy. valeria.tiranti@istituto-besta.it.,


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Mutations in PSEN1 are responsible for familial Alzheimer's disease (FAD) inherited as autosomal dominant trait, but also de novo mutations have been rarely reported in sporadic early-onset dementia cases. Parkinsonism in FAD has been mainly described in advanced disease stages. We characterized a patient presenting with early-onset dystonia-parkinsonism later complicated by dementia and myoclonus. Brain MRI showed signs of iron accumulation in the basal ganglia mimicking neurodegeneration with brain iron accumulation (NBIA) as well as fronto-temporal atrophy. Whole exome sequencing revealed a novel PSEN1 mutation and segregation within the family demonstrated the mutation arose de novo.We suggest considering PSEN1 mutations in cases of dystonia-parkinsonism with positive DAT-Scan, later complicated by progressive cognitive decline and cortical myoclonus even without a dominant family history.
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26 Records (25 escludendo Abstract e Conferenze).
Impact factor totale: 118.709 (110.406 escludendo Abstract e Conferenze).
Impact factor a 5 anni totale: 116.991 (108.616 escludendo Abstract e Conferenze).







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