title: Myocardial123I-metaiodobenzylguanidine scintigraphy in patients with homozygous and heterozygous parkin mutations.
abstract: 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).
  
  
  
  Myocardial123I-metaiodobenzylguanidine (MIBG) scintigraphy was performed in six PD patients with single parkin mutations (HET), four with two mutations (PARK2), and eight with IPD.
  
  
  
  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.
  
  
  
  Preserved cardiac123I-MIBG uptake confirms that PARK2 pathogenic mechanism, at least partially, differs from that responsible for IPD. HET subjects show intermediate findings, suggesting possible heterogeneity.
authors.affiliation: Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy. anna_derosa@libero.it.
authors.forename: Anna
authors.initials: A
authors.lastname: De Rosa
authors.affiliation: Institute of Biostructure and Bioimaging, National Council of Research, Naples, Italy.
authors.forename: Teresa
authors.initials: T
authors.lastname: Pellegrino
authors.affiliation: Institute of Biostructure and Bioimaging, National Council of Research, Naples, Italy.
authors.forename: Sabina
authors.initials: S
authors.lastname: Pappatà
authors.affiliation: Center for Neurodegenerative Disease, University of Salerno-CEMAND, Salerno, Italy.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Pellecchia
authors.affiliation: Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy.
authors.forename: Silvio
authors.initials: S
authors.lastname: Peluso
authors.affiliation: Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Saccà
authors.affiliation: Center for Neurodegenerative Disease, University of Salerno-CEMAND, Salerno, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Barone
authors.affiliation: Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Cuocolo
authors.affiliation: Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy.|Institute of Biostructure and Bioimaging, National Council of Research, Naples, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: De Michele
mesh_terms: D019797:3-Iodobenzylguanidine; D000328:Adult; D000368:Aged; D001342:Autonomic Nervous System Diseases / Q000000981:diagnostic imaging / Q000503:physiopathology*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006321:Heart / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010300:Parkinson Disease / Q000000981:diagnostic imaging / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011877:Radionuclide Imaging / Q000379:methods; D019275:Radiopharmaceuticals; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D019275:Radiopharmaceuticals; D019797:3-Iodobenzylguanidine; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein
keywords: 123I-metaiodobenzylguanidine myocardial scintigraphy; Parkinson’s Disease; parkin gene