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01-02-2017 | Brief Report

Myocardial ¹²³I-metaiodobenzylguanidine scintigraphy in patients with homozygous and heterozygous parkin mutations

Authors: Anna De Rosa, MD, PhD, Teresa Pellegrino, MD, PhD, Sabina Pappatà, MD, Maria Teresa Pellecchia, MD, PhD, Silvio Peluso, MD, Francesco Saccà, MD, Paolo Barone, MD, PhD, Alberto Cuocolo, MD, Giuseppe De Michele, MD

Published in: Journal of Nuclear Cardiology | Issue 1/2017

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.

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Title: Myocardial 123I-metaiodobenzylguanidine scintigraphy in patients with homozygous and heterozygous parkin mutations
Authors: Anna De Rosa, MD, PhD
Teresa Pellegrino, MD, PhD
Sabina Pappatà, MD
Maria Teresa Pellecchia, MD, PhD
Silvio Peluso, MD
Francesco Saccà, MD
Paolo Barone, MD, PhD
Alberto Cuocolo, MD
Giuseppe De Michele, MD
Publication date: 01-02-2017
Publisher: Springer US
Published in: Journal of Nuclear Cardiology / Issue 1/2017
Print ISSN: 1071-3581
Electronic ISSN: 1532-6551
DOI: https://doi.org/10.1007/s12350-015-0332-z

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Myocardial ¹²³I-metaiodobenzylguanidine scintigraphy in patients with homozygous and heterozygous parkin mutations

Abstract

Background

Patients and Methods

Results

Conclusions

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Abstract

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Conclusions

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