Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation (218 views visite)
Neurogenetics (ISSN: 1364-6745, 1364-6753), 2017 Jul; 18(3): 175-178.
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Paper type Tipo di articolo: Journal Article,
Impact factor: 3.09, 5-year impact factor 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
Keywords Parole chiave: Dystonia, Nbia, Psen1, Parkinsonism,
Affiliations 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.,
References Riferimenti:
Not available. Non disponibili.
Neurogenetics (ISSN: 1364-6745, 1364-6753), 2017 Jul; 18(3): 175-178.
Export to Esporta in BibTeX Export to Esporta in EndNote
Paper type Tipo di articolo: Journal Article,
Impact factor: 3.09, 5-year impact factor 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
Keywords Parole chiave: Dystonia, Nbia, Psen1, Parkinsonism,
Affiliations 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.,
References Riferimenti:
Not available. Non disponibili.
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation
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.
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.
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation
No results. Nessun risultato. |
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation
Peluso S, Bilo L, Esposito M, Antenora A, De Rosa A, Pappata S, De Michele G
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* Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism (219 visite)
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* Efficacy of dopamine agonist treatment in delayed-onset parkinsonism due to midbrain hemorrhage (212 visite)
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Erro R, Pappata S, Barone P, Pellecchia MT
* Comment on di Giuda et al.: Dopaminergic dysfunction and psychiatric symptoms in movement disorders: A 123I-FP-CIT SPECT study (243 visite)
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Erro R, Pappata S, Picillo M, Rocco M, Santangelo G, Barone P, Vitale C
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Antonini A, Vitale C, Barone P, Cilia R, Righini A, Bonuccelli U, Abbruzzese G, Ramat S, Petrone A, Quatrale R, Marconi R, Ceravolo R, Stefani A, Lopiano L, Zappia M, Capus L, Morgante L, Tamma F, Tinazzi M, Colosimo C, Guerra UP, Valzania F, Fagioli G, Distefano A, Bagnato A, Feggi L, Anna S, Maria Teresa Rosaria De Cr, Nobili F, Mazzuca N, Baldari S, Eleopra R, Bestetti A, Benti R, Varrone A, Volterrani D, Massa R, Stocchi F, Schillaci O, Dore F, Zibetti M, Castellano G, Battista SG, Giorgetti G
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Darcourt J, Booij J, Tatsch K, Varrone A, Borght TV, Kapucu OL, Nagren K, Nobili F, Walker Z, Van Laere K
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Varrone A, Asenbaum S, Vander Borght T, Booij J, Nobili F, Nagren K, Darcourt J, Kapucu OL, Tatsch K, Bartenstein P, Van Laere K
* EANM procedure guidelines for PET brain imaging using [18F]FDG, version (497 visite)
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Peluso S, Bilo L, Esposito M, Antenora A, De Rosa A, Pappata S, De Michele G
* Chorea-acanthocytosis without chorea: Expanding the clinical phenotype (187 visite)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2017 May 17; 41: 124-126.
Impact Factor: 4.721
Dettagli Esporta in BibTeX Esporta in EndNote
De Rosa A, Pappata S, Peluso S, Sacca F, Lieto M, Filla A, De Michele G
* Pathological laughter as onset symptom in atypical parkinsonisms (194 visite)
J Neurol (ISSN: 0340-5354, 1432-1459, 0340-5354print), 2017 Jan; 264(1): 182-184.
Impact Factor: 3.783
Dettagli Esporta in BibTeX Esporta in EndNote
Bilo L, Peluso S, Antenora A, De Rosa A, Esposito M, Barbato S, Pappata S, De Michele G
* Parkinsonism in adult-onset Rasmussens's encephalitis: a clinical picture presenting as corticobasal syndrome (233 visite)
Int J Neurosci (ISSN: 0020-7454), 2016 Mar; N/D: 1-3.
Impact Factor: 1.75
Dettagli Esporta in BibTeX Esporta in EndNote
De Rosa A, Pellegrino T, Pappata S, Lieto M, Bonifati V, Palma V, Topa A, Santoro L, Bilo L, Cuocolo A, De Michele G
* Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism (219 visite)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2016 Feb; 23: 102-105.
Impact Factor: 4.484
Dettagli Esporta in BibTeX Esporta in EndNote
Peluso S, De Rosa A, Antenora A, Lieto M, Criscuolo C, Barbieri F, Pappata S, De Michele G
* Efficacy of dopamine agonist treatment in delayed-onset parkinsonism due to midbrain hemorrhage (212 visite)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2015 Feb; 21(2): 156-158.
Impact Factor: 3.794
Dettagli Esporta in BibTeX Esporta in EndNote
DeRosa A, Carducci C, Carducci C, Peluso S, Lieto M, Mazzella A, Saccà F, Brescia Morra V, Pappata S, Leuzzi V, De Michele G
* Screening for dopa-responsive dystonia in patients with scans without evidence of dopaminergic deficiency (SWEDD) (371 visite)
J Neurol (ISSN: 0340-5354, 1432-1459, 0340-5354print), 2014 Nov; 261(11): 2204-2208.
Impact Factor: 3.377
Dettagli Esporta in BibTeX Esporta in EndNote
Moccia M, Erro R, Montella S, Carotenuto A, Pappata S, Orefice G
* Diagnostic challenges of Parkinsonism occurring in multiple sclerosis (217 visite)
Acta Neurol Belg (ISSN: 0300-9009), 2014 Oct 12; 115(3): 513-515.
Impact Factor: 0.894
Dettagli Esporta in BibTeX Esporta in EndNote
Olgiati S, De Rosa A, Quadri M, Criscuolo C, Breedveld GJ, Picillo M, Pappata S, Quarantelli M, Barone P, De Michele G, Bonifati V
* Park20 Caused By Synj1 Homozygous Arg258gln Mutation In A New Italian Family (416 visite)
Neurogenetics (ISSN: 1364-6745, 1364-6753), 2014 Aug; 15(3): 183-188.
Impact Factor: 2.884
Dettagli Esporta in BibTeX Esporta in EndNote
Bilo L, Peluso S, Antenora A, De Rosa A, Auletta G, Pappata S, De Michele G
* Parkinsonism may be part of the symptom complex of DOOR syndrome (211 visite)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2014 Apr; 20(4): 463-465.
Impact Factor: 3.972
Dettagli Esporta in BibTeX Esporta in EndNote
Quadri M, Fang M, Picillo M, Olgiati S, Breedveld Gj Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappata S, Quarantelli M, Annesi G, Quattrone A, Chien Hf Barbosa ER, International Parkinsonism Genetics Network Oostra Ba Barone P, Wang J, Bonifati V
* Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism (332 visite)
Hum Mutat (ISSN: 1059-7794, 1098-1004, 1098-1004electronic), 2013 Sep; 34(9): 1208-1215.
Impact Factor: 5.122
Dettagli Esporta in BibTeX Esporta in EndNote
Erro R, Pappata S, Barone P, Pellecchia MT
* Comment on di Giuda et al.: Dopaminergic dysfunction and psychiatric symptoms in movement disorders: A 123I-FP-CIT SPECT study (243 visite)
Eur J Nucl Med (ISSN: 1619-7070, 1619-7089, 0340-6997), 2013 Apr; 40(4): 636-637.
Impact Factor: 5.217
Dettagli Esporta in BibTeX Esporta in EndNote
Erro R, Pappata S, Picillo M, Rocco M, Santangelo G, Barone P, Vitale C
* Teaching NeuroImages: Pseudo-abnormal DaTscan findings in meningioma-induced parkinsonism (242 visite)
Neurology (ISSN: 0028-3878, 1526-632x, 1526-632xelectronic), 2013 Mar 26; 80(13): e147-e147.
Impact Factor: 8.303
Dettagli Esporta in BibTeX Esporta in EndNote
Antonini A, Vitale C, Barone P, Cilia R, Righini A, Bonuccelli U, Abbruzzese G, Ramat S, Petrone A, Quatrale R, Marconi R, Ceravolo R, Stefani A, Lopiano L, Zappia M, Capus L, Morgante L, Tamma F, Tinazzi M, Colosimo C, Guerra UP, Valzania F, Fagioli G, Distefano A, Bagnato A, Feggi L, Anna S, Maria Teresa Rosaria De Cr, Nobili F, Mazzuca N, Baldari S, Eleopra R, Bestetti A, Benti R, Varrone A, Volterrani D, Massa R, Stocchi F, Schillaci O, Dore F, Zibetti M, Castellano G, Battista SG, Giorgetti G
* The relationship between cerebral vascular disease and parkinsonism: The VADO study (422 visite)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1873-5126electronic), 2012; 18(6): 775-780.
Impact Factor: 3.274
Dettagli Esporta in BibTeX Esporta in EndNote
De Rosa A, Rinaldi C, Tucci T, Pappata S, Rossi F, Morra VB, Faggiano A, Colao A, De Michele G
* Co-existence of primary hyperparathyroidism and Parkinson's disease in three patients: An incidental finding? (322 visite)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1873-5126electronic), 2011 Dec; 17(10): 771-773.
Impact Factor: 3.795
Dettagli Esporta in BibTeX Esporta in EndNote
Striano P, Caranci F, Pappata S, Zara F, Striano S
* Hemidystonia in uncontrolled type 2 diabetes mellitus (232 visite)
Arch Neurol (ISSN: 1538-3687electronic, 0003-9942linking), 2011 May; 68(5): 674-675.
Impact Factor: 7.584
Dettagli Esporta in BibTeX Esporta in EndNote
Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappata S, Di Fonzo A, Oostra BA, Bonifati V
* Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability (287 visite)
Neurogenetics (ISSN: 1364-6745, 1364-6753, 1364-6753electronic), 2011 Feb; 12(1): 33-39.
Impact Factor: 3.354
Dettagli Esporta in BibTeX Esporta in EndNote
Varrone A, Halldin C
Molecular imaging of the dopamine transporter (472 visite)
J Nucl Med (ISSN: 0161-5505, 1535-5667, 1535-5667electronic), 2010 Sep 1; 51(9): 1331-1334.
Impact Factor: 7.022
Dettagli Esporta in BibTeX Esporta in EndNote
Darcourt J, Booij J, Tatsch K, Varrone A, Borght TV, Kapucu OL, Nagren K, Nobili F, Walker Z, Van Laere K
* EANM procedure guidelines for brain neurotransmission SPECT using 123I-labelled dopamine transporter ligands, version (535 visite)
Eur J Nucl Med (ISSN: 1619-7070, 1619-7089, 0340-6997), 2010 Feb; 37(2): 443-450.
Impact Factor: 5.036
Dettagli Esporta in BibTeX Esporta in EndNote
Varrone A, Asenbaum S, Vander Borght T, Booij J, Nobili F, Nagren K, Darcourt J, Kapucu OL, Tatsch K, Bartenstein P, Van Laere K
* EANM procedure guidelines for PET brain imaging using [18F]FDG, version (497 visite)
Eur J Nucl Med (ISSN: 1619-7070, 1619-7089, 0340-6997), 2009 Dec; 36(12): 2103-2110.
Impact Factor: 4.531
Dettagli Esporta in BibTeX Esporta in EndNote
Pellecchia MT, Barone PB, Mollica C, Salvatore E, Ianniciello M, Longo K, Varrone A, Vicidomini C, Picillo M, De Michele G, Filla A, Salvatore M, Pappata S
* Diffusion-weighted imaging in multiple system atrophy: a comparison between clinical subtypes (362 visite)
Mov Disord (ISSN: 1531-8257, 0885-3185), 2009 Apr 15; 24(5): 689-696.
Impact Factor: 4.014
Dettagli Esporta in BibTeX Esporta in EndNote
De Rosa A, Carducci C, Antonozzi I, Giovanniello T, Xhoxhi E, Criscuolo C, Menchise V, Striano S, Filla A, De Michele G
* A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia [9] (275 visite)
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 2007 Sep; 254(8): 1133-1134.
Impact Factor: 2.477
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Pellecchia MT, Varrone A, Annesi G, Amboni M, Cicarelli G, Sansone V, Annesi F, Rocca FE, Vitale C, Pappata S, Quattrone A, Barone P
* Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: An FP-CIT SPECT study (241 visite)
Mov Disord (ISSN: 0885-3185, 1531-8257), 2007 Mar 15; 22(4): 559-563.
Impact Factor: 3.207
Dettagli Esporta in BibTeX Esporta in EndNote
Salvatore E, Varrone A, Sansone V, Nolano M, Bruni AC, De Rosa A, Santoro L, Pappata S, Filla A, De Michele G
* Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17 (253 visite)
Mov Disord (ISSN: 0885-3185, 1531-8257), 2006 Jun; 21(6): 872-875.
Impact Factor: 3.323
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Covelli EM, Brunetti A, Di Lauro A, Sullo P, Mazzarella G, Tedeschi E, Belfiore G
* Clinical impact of correlative [123I]-FP-CIT brain imaging and neurological findings in suspect Parkinson's disease (295 visite)
Radiol Med (ISSN: 0033-8362, 1826-6983, 1826-6983electronic), 2004 Oct; 108(4): 417-425.
Impact Factor: 1.368
Dettagli Esporta in BibTeX Esporta in EndNote
Varrone A, Salvatore E, De Michele G, Barone P, Sansone V, Pellecchia MT, Castaldo I, Coppola G, Brunetti A, Salvatore M, Pappata S, Filla A
* Reduced Striatal [123I]FP-CIT Binding in SCA2 Patients without Parkinsonism (342 visite)
Annals Of Neurology, 2004 Mar; 55(3): 426-430.
Impact Factor: 11.91
Dettagli Esporta in BibTeX Esporta in EndNote
Miletich RS, Bankiewicz KS, Quarantelli M, Plunkett RJ, Frank J, Kopin IJ, Di Chiro G
MRI detects acute degeneration of the nigrostriatal dopamine system after MPTP exposure in hemiparkinsonian monkeys (284 visite)
Ann Neurol (ISSN: 0364-5134), 1994 Jun; 35(6): 689-697.
Impact Factor: 9.513
Dettagli Esporta in BibTeX Esporta in EndNote
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).
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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