Myocardial 123metaiodobenzylguanidine uptake in genetic Parkinson's disease.
Myocardial (123)Metaiodobenzylguanidine (MIBG) enables the assessment of postganglionic sympathetic cardiac innervation. MIBG uptake is decreased in nearly all patients with Parkinson's disease (PD). Our objective was to evaluate MIBG uptake in patients with genetic PD. We investigated MIBG uptake in 14 patients with PD associated with mutations in different genes (Parkin, DJ-1, PINK1, and leucine-rich repeat kinase 2 -LRRK2), in 15 patients with idiopathic PD, and 10 control subjects. The myocardial MIGB uptake was preserved in 3 of the 4 Parkin-associated Parkinsonisms, in 1 of the 2 patients with DJ-1 mutations, in 1 of the 2 brothers with PINK1 mutations, in 3 of the 6 unrelated patients with Gly2019Ser mutation in the LRRK2 gene, whereas it was impaired in all patients with idiopathic PD. MIBG was preserved in all control subjects. Our study shows that myocardial MIGB uptake was normal in 8 of 14 patients with genetic PD, suggesting that cardiac sympathetic denervation occurs less frequently in genetic PD than in idiopathic PD. Our findings also demonstrate that MIGB uptake has a heterogeneous pattern in genetic PD, because it was differently impaired in patients with different mutations in the same gene or with the same gene mutation.
Quattrone
Aldo
A
Institute of Neurology, University Magna Graecia, Catanzaro, Italy. a.quattrone@isn.cnr.it
Bagnato
Antonio
A
Annesi
Grazia
G
Novellino
Fabiana
F
Morgante
Letterio
L
Savettieri
Giovanni
G
Zappia
Mario
M
Tarantino
Patrizia
P
Candiano
Innocenza Claudia Cirò
IC
Annesi
Ferdinanda
F
Civitelli
Donatella
D
Rocca
Francesca Emanuela
FE
D'Amelio
Marco
M
Nicoletti
Giuseppe
G
Morelli
Maurizio
M
Petrone
Alfredo
A
Loizzo
Piercostanzo
P
Condino
Francesca
F
D019797:3-Iodobenzylguanidine / Q000493:pharmacokinetics*; D000328:Adult; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D005712:Galvanic Skin Response / Q000502:physiology; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000097:blood / Q000235:genetics; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000175:diagnosis / Q000453:epidemiology; D009206:Myocardium / Q000378:metabolism*; D015513:Oncogene Proteins / Q000097:blood / Q000235:genetics; D010300:Parkinson Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D011401:Promoter Regions, Genetic; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases / Q000097:blood / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000097:blood / Q000235:genetics; D019275:Radiopharmaceuticals / Q000493:pharmacokinetics*; D012720:Severity of Illness Index; D011795:Surveys and Questionnaires; D015899:Tomography, Emission-Computed, Single-Photon / Q000379:methods; D044767:Ubiquitin-Protein Ligases / Q000097:blood / Q000235:genetics; D000099202:PTEN-Induced Putative Kinase
D019797:3-Iodobenzylguanidine; D047908:Intracellular Signaling Peptides and Proteins; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D015513:Oncogene Proteins; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases; D017346:Protein Serine-Threonine Kinases; D019275:Radiopharmaceuticals; D044767:Ubiquitin-Protein Ligases; D000099202:PTEN-Induced Putative Kinase; C111567:parkin protein; C495280:LRRK2 protein, human; C105131:PARK7 protein, human