{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T11:53:27Z","timestamp":1771847607178,"version":"3.50.1"},"reference-count":37,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,6,13]],"date-time":"2021-06-13T00:00:00Z","timestamp":1623542400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:p>Lewy bodies (LBs) are usually detected in patients with idiopathic Parkinson's disease (PD), but there have been few reports of LBs in a familial form of early\u2010onset PD associated with several mutations in <jats:italic>parkin<\/jats:italic>, a gene that encodes a ubiquitin E3 ligase involved in mitochondrial homeostasis, being also known as <jats:italic>PARK2<\/jats:italic>. Here, we report a case of PD with a <jats:italic>PARK2<\/jats:italic> mutation characterized by a homozygous deletion of exon 2 and incidental LB pathology. A 60\u2010year\u2010old man developed tremor in the upper limbs. Although levodopa was initially effective, his symptoms slowly progressed. His cardiac uptake of <jats:sup>123<\/jats:sup>I\u2010metaiodobenzylguanidine, as assessed by myocardial scintigraphy, decreased from an early stage after the onset. At the age of 81\u2009years, he developed <jats:italic>Legionella<\/jats:italic> pneumonia and died of respiratory failure. Histopathological examination revealed a moderate loss of pigmented neurons, as well as gliosis in the substantia nigra and the locus coeruleus. Little LB\u2010related pathology was found in the locus coeruleus, dorsal nucleus of vagal nerve, and basal nucleus of Meynert. The cardiac sympathetic nerve in the epicardium showed a reduction in the numbers of fibers immunoreactive for tyrosine hydroxylase and phosphorylated neurofilament protein. Genetic analysis of frozen brain materials revealed a homozygous deletion of exon 2 of <jats:italic>parkin<\/jats:italic>. To our knowledge, this is the first autopsy case with a homozygous deletion of exon 2 of <jats:italic>parkin<\/jats:italic>. The number of LBs was small, the age of disease onset was later than that in typical <jats:italic>PARK2<\/jats:italic>\u2010associated PD patients, and cardiac sympathetic denervation was also present. Thus, we considered the LBs in our case as incidental and preclinical \u03b1\u2010synucleinopathy.<\/jats:p>","DOI":"10.1111\/neup.12735","type":"journal-article","created":{"date-parts":[[2021,6,14]],"date-time":"2021-06-14T01:09:45Z","timestamp":1623632985000},"page":"293-300","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["An autopsy case of PARK2 due to a homozygous exon 2 deletion of <i>parkin<\/i> and associated with \u03b1\u2010synucleinopathy"],"prefix":"10.1111","volume":"41","author":[{"given":"Mayuko","family":"Sakuwa","sequence":"first","affiliation":[{"name":"Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine Tottori University  Yonago Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4919-2325","authenticated-orcid":false,"given":"Tadashi","family":"Adachi","sequence":"additional","affiliation":[{"name":"Division of 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