{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T06:48:42Z","timestamp":1776235722642,"version":"3.50.1"},"reference-count":47,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,8,26]],"date-time":"2021-08-26T00:00:00Z","timestamp":1629936000000},"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":["Euro J of Neurology"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Perry disease (or Perry syndrome) is an autosomal dominant neurodegenerative disorder characterized by parkinsonism, neuropsychiatric symptoms, central hypoventilation, weight loss and distinct TDP\u201043 pathology. It is caused by mutations of the <jats:italic>DCTN1<\/jats:italic>\u00a0gene encoding an essential component of axonal transport. The objectives were to provide the current state of knowledge on clinical, pathological and genetic aspects of Perry disease, as well as practical suggestions for the management of the disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Data on new patients from New Zealand, Poland and Colombia were collected, including autopsy report. Also all of the published papers since the original work by Perry in 1975 were gathered and analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Parkinsonism was symmetrical, progressed rapidly and was poorly responsive to L\u2010Dopa; nonetheless, a trial with high doses of L\u2010Dopa is warranted. Depression was severe, associated with suicidal ideations, and benefited from antidepressants and L\u2010Dopa. Respiratory symptoms were the leading cause of death, and artificial ventilation or a diaphragm pacemaker prolonged survival. Weight loss occurred in most patients and was of multifactorial etiology. Autonomic dysfunction was frequent but underdiagnosed. There was a clinical overlap with other neurodegenerative disorders. An autopsy showed distinctive pallidonigral degeneration with TDP\u201043 pathology. Genetic testing provided evidence of a common founder for two families. There was striking phenotypic variability in <jats:italic>DCTN1<\/jats:italic>\u2010related disorders. It is hypothesized that oligogenic or polygenic inheritance is at play.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Perry disease and other <jats:italic>DCTN1<\/jats:italic>\u2010related diseases are increasingly diagnosed worldwide. Relatively effective symptomatic treatments are available. Further studies are needed to pave the way toward curative\/gene therapy.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15048","type":"journal-article","created":{"date-parts":[[2021,8,3]],"date-time":"2021-08-03T07:23:25Z","timestamp":1627975405000},"page":"4010-4021","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Clinical, pathological and genetic characteristics of Perry disease\u2014new cases and literature review"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5517-9875","authenticated-orcid":false,"given":"Jaros\u0142aw","family":"Dulski","sequence":"first","affiliation":[{"name":"Division of Neurological and Psychiatric Nursing Faculty of Health Sciences Medical University of Gdansk Gdansk Poland"},{"name":"Neurology Department St Adalbert Hospital, Copernicus PL Gdansk 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