Anna De Rosa1, Teresa Pellegrino2, Sabina Pappatà2, Maria Teresa Pellecchia3, Silvio Peluso4, Francesco Saccà4, Paolo Barone3, Alberto Cuocolo5, Giuseppe De Michele4,2. 1. Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy. anna_derosa@libero.it. 2. Institute of Biostructure and Bioimaging, National Council of Research, Naples, Italy. 3. Center for Neurodegenerative Disease, University of Salerno-CEMAND, Salerno, Italy. 4. Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy. 5. Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy.
Abstract
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.
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 PDpatients 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 HETpatients had only lower early H/M ratio, and PARK2patients 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 PARK2patients. 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.
Authors: Anna De Rosa; Giampiero Volpe; Lucia Marcantonio; Lucio Santoro; Alexis Brice; Alessandro Filla; Anna Perretti; Giuseppe De Michele Journal: J Neurol Date: 2006-03-06 Impact factor: 4.849
Authors: V Bonifati; G De Michele; C B Lücking; A Dürr; E Fabrizio; G Ambrosio; N Vanacore; M De Mari; R Marconi; L Capus; M M Breteler; T Gasser; B Oostra; N Wood; Y Agid; A Filla; G Meco; A Brice Journal: Neurol Sci Date: 2001-02 Impact factor: 3.307
Authors: Andrew West; Magali Periquet; Sarah Lincoln; Christoph B Lücking; David Nicholl; Vincenzo Bonifati; Nina Rawal; Thomas Gasser; Ebba Lohmann; Jean-François Deleuze; Demetrius Maraganore; Allan Levey; Nick Wood; Alexandra Dürr; John Hardy; Alexis Brice; Matt Farrer Journal: Am J Med Genet Date: 2002-07-08
Authors: Madeleine E Sharp; Karen S Marder; Lucien Côté; Lorraine N Clark; William C Nichols; Jean-Paul Vonsattel; Roy N Alcalay Journal: Mov Disord Date: 2013-12-27 Impact factor: 10.338
Authors: Roberta Assante; Elena Salvatore; Carmela Nappi; Silvio Peluso; Giovanni De Simini; Luigi Di Maio; Gianluigi Rosario Palmieri; Isabella Pia Ferrara; Alessandro Roca; Giuseppe De Michele; Alberto Cuocolo; Sabina Pappatà; Anna De Rosa Journal: J Nucl Cardiol Date: 2020-08-16 Impact factor: 5.952
Authors: Risa Isonaka; David S Goldstein; William Zhu; Esther Yoon; Debra Ehrlich; Alice B Schindler; Angela D Kokkinis; Marya S Sabir; Sonja W Scholz; Sara Bandres-Ciga; Cornelis Blauwendraat; Pedro Gonzalez-Alegre; Grisel Lopez; Ellen Sidransky; Derek P Narendra Journal: Mov Disord Date: 2021-06-02 Impact factor: 9.698