Myocardial 123I-metaiodobenzylguanidine scintigraphy in patients with homozygous and heterozygous parkin mutations(217 views visite) De Rosa A, Pellegrino T, Pappata S, Pellecchia MT, Peluso S, Sacca F, Barone P, Cuocolo A, De Michele G
Keywords Parole chiave: 123i-Metaiodobenzylguanidine Myocardial Scintigraphy, Parkinson, S Disease, Parkin Gene,
Affiliations Affiliazioni: *** IBB - CNR ***
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy. anna_derosa@libero.it., Institute of Biostructure and Bioimaging, National Council of Research, Naples, Italy., Center for Neurodegenerative Disease, University of Salerno-CEMAND, Salerno, Italy., Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy.,
References Riferimenti: Not available. Non disponibili.
Myocardial 123I-metaiodobenzylguanidine scintigraphy in patients with homozygous and heterozygous parkin mutations
BACKGROUND: PARK2 is an autosomal recessive parkinsonism caused by parkin gene mutations. Several Parkinson's Disease (PD) cases harbor single parkin mutations, raising a debate about the pathogenic meaning of heterozygous mutations. Here, we evaluate cardiac autonomic innervation in patients with either two or one parkin mutations compared to patients with idiopathic PD (IPD). PATIENTS AND METHODS: Myocardial 123I-metaiodobenzylguanidine (MIBG) scintigraphy was performed in six PD patients with single parkin mutations (HET), four with two mutations (PARK2), and eight with IPD. RESULTS: In comparison to control group, IPD patients showed lower early and late heart-to-mediastinum (H/M) ratios and higher washout rates, whereas HET patients had only lower early H/M ratio, and PARK2 patients were not different for any parameter. At individual level, MIBG findings were abnormal in 7/8 IPD, in 4/6 HET and in 1/4 PARK2 patients. CONCLUSIONS: Preserved cardiac 123I-MIBG uptake confirms that PARK2 pathogenic mechanism, at least partially, differs from that responsible for IPD. HET subjects show intermediate findings, suggesting possible heterogeneity.
Myocardial 123I-metaiodobenzylguanidine scintigraphy in patients with homozygous and heterozygous parkin mutations
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 DettagliEsporta in BibTeXEsporta in EndNote
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Last modified by Ultima modifica di Gennaro Angrisano on in data Sunday 12 July 2020, 13:14:45 217 views visite. Last view on Ultima visita in data Wednesday 03 February 2021, 23:42:27