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Meta-iodobenzylguanidine myocardial scintigraphy in Perry disease.
- Source :
-
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2021 Feb; Vol. 83, pp. 49-53. Date of Electronic Publication: 2021 Jan 12. - Publication Year :
- 2021
-
Abstract
- Introduction: Perry disease (Perry syndrome), a hereditary TAR DNA-binding protein 43 (TDP-43) proteinopathy, is caused by dynactin subunit 1 (DCNT1) mutations and is characterized by rapidly progressive parkinsonism accompanied by depression, apathy, unexpected weight loss, and respiratory symptoms including central hypoventilation and central sleep apnea. Meta-iodobenzylguanidine (MIBG) myocardial scintigraphy is considered a diagnostic biomarker for Lewy body disease (LBD), as denervation of cardiac sympathetic nerves is a pathological feature in LBD. However, our previous studies have reported a decreased cardiac uptake of MIBG in patients with Perry disease. In this study, we aimed to correlate the MIBG myocardial scintigraphy findings with clinical features in Perry disease.<br />Methods: We evaluated data obtained from a multicenter survey of patients of Japanese origin with suspected Perry disease, who visited neurology departments in Japan from January 2010 to December 2018. We screened each patient's DNA for the DCTN1 mutation using Sanger sequencing and obtained the clinical details of all patients including findings from their MIBG myocardial scintigraphy.<br />Results: We identified two novel mutations, p.G71V and p.K68E, in DCTN1 in patients from two different families. The majority of patients (7/8, 87.5%) showed a decrease in cardiac uptake (heart to mediastinum ratio) in MIBG myocardial scintigraphy. These patients commonly presented with symptoms related to autonomic dysfunction: constipation, fecal incontinence, urinary disturbance, and orthostatic hypotension.<br />Conclusions: MIBG myocardial scintigraphy may be a useful biomarker of autonomic dysfunction in Perry disease.<br /> (Copyright © 2021 Elsevier Ltd. All rights reserved.)
- Subjects :
- 3-Iodobenzylguanidine pharmacokinetics
Aged
Autonomic Nervous System Diseases etiology
Biomarkers
Depression complications
Depression diagnostic imaging
Depression genetics
Dynactin Complex genetics
Female
Humans
Hypoventilation complications
Hypoventilation genetics
Japan
Magnetic Resonance Imaging
Male
Middle Aged
Parkinsonian Disorders complications
Parkinsonian Disorders genetics
Pedigree
Radiopharmaceuticals pharmacokinetics
Autonomic Nervous System Diseases diagnostic imaging
Hypoventilation diagnostic imaging
Myocardial Perfusion Imaging
Parkinsonian Disorders diagnostic imaging
Subjects
Details
- Language :
- English
- ISSN :
- 1873-5126
- Volume :
- 83
- Database :
- MEDLINE
- Journal :
- Parkinsonism & related disorders
- Publication Type :
- Academic Journal
- Accession number :
- 33476877
- Full Text :
- https://doi.org/10.1016/j.parkreldis.2020.12.017