{"id":2202,"date":"2018-04-25T20:21:30","date_gmt":"2018-04-25T20:21:30","guid":{"rendered":"https:\/\/medicalcriteria.com\/web\/?p=1052"},"modified":"2026-02-12T19:12:23","modified_gmt":"2026-02-12T19:12:23","slug":"perry-syndrome","status":"publish","type":"post","link":"https:\/\/medicalcriteria.com\/web\/perry-syndrome\/","title":{"rendered":"Diagnostic Criteria for Perry Syndrome"},"content":{"rendered":"<div class=\"99c380e4b4a7b96c35d7ddf7dcb434e8\" data-index=\"1\" style=\"float: none; margin:0px 0 0px 0; text-align:center;\">\n<script async src=\"https:\/\/pagead2.googlesyndication.com\/pagead\/js\/adsbygoogle.js\"><\/script>\r\n<!-- MC 2019- Horizontal -->\r\n<ins class=\"adsbygoogle\"\r\n     style=\"display:block\"\r\n     data-ad-client=\"ca-pub-0127150553352455\"\r\n     data-ad-slot=\"3806776041\"\r\n     data-ad-format=\"auto\"\r\n     data-full-width-responsive=\"true\"><\/ins>\r\n<script>\r\n     (adsbygoogle = window.adsbygoogle || []).push({});\r\n<\/script>\n<\/div>\n<p>Perry syndrome is characterised by rapidly progressive parkinsonism often accompanied by depression\/apathy, weight loss and central hypoventilation.<!--more--><br \/>\n<strong>Diagnostic Criteria for Perry Syndrome<\/strong><\/p>\n<table style=\"border-collapse: collapse; width: 100%;\" border=\"1\">\n<tbody>\n<tr>\n<td colspan=\"2\"><strong>\u00a0Clinical features<\/strong><\/td>\n<td><strong>Laboratory features\u00a0<\/strong><\/td>\n<\/tr>\n<tr>\n<td>\u00a0Cardinal<\/td>\n<td>Supportive<\/td>\n<td>\u00a0Cardinal<\/td>\n<\/tr>\n<tr>\n<td>\u00a0(A) Parkinsonism<\/td>\n<td>\u00a0(a) Rapid disease progression within 5\u2009years of onset<\/td>\n<td>\u00a0(1) Genetic test: mutation in the DCTN1 gene<\/td>\n<\/tr>\n<tr>\n<td>\u00a0(B) Apathy or depression<\/td>\n<td>\u00a0(b) Onset younger than 50\u2009years<\/td>\n<td>\u00a0(2) Pathology: nigral neuronal loss and TDP-43 pathology in the brainstem and basal ganglia<\/td>\n<\/tr>\n<tr>\n<td>\u00a0(C) Respiratory symptoms<\/td>\n<td><\/td>\n<td><\/td>\n<\/tr>\n<tr>\n<td>\u00a0(D) Unexpected weight loss<\/td>\n<td><\/td>\n<td><\/td>\n<\/tr>\n<tr>\n<td>\u00a0(E) Positive family history of parkinsonism or respiratory symptoms<\/td>\n<td><\/td>\n<td><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p><strong>Definite:<\/strong> presence of (A) and (E) plus cardinal laboratory features of positive genetic test (1) or presence of (A), (B), (C) and (D) plus cardinal laboratory features of positive genetic test (1) or presence of (A)\u2013(D) plus cardinal laboratory features of TDP-43 pathology (2). If an evidence of other mutations or neurodegenerative disease pathology is present, there must also be both cardinal laboratory features.<br \/>\n<strong><br \/>\nProbable:<\/strong> presence of (A)\u2013(E).<br \/>\n<strong><br \/>\nPossible:<\/strong> presence of (A) and (E) plus supportive clinical features of (a) or (b).<br \/>\n(A) Parkinsonism requires two or more among rigidity, tremor (with postural tremor acceptable), bradykinesia and postural instability. (C) Respiratory symptoms require exclusion of cardiac and pulmonary diseases.<br \/>\nTDP-43, TAR DNA-binding protein 43.<\/p>\n<p>&nbsp;<\/p>\n<p><strong>References:<\/strong><\/p>\n<ol>\n<li>Mishima T, Fujioka S, Tomiyama H, Yabe I, Kurisaki R, Fujii N, Neshige R, Ross OA, Farrer MJ, Dickson DW, Wszolek ZK, Hattori N, Tsuboi Y. Establishing diagnostic criteria for Perry syndrome.\u00a0J Neurol Neurosurg Psychiatry. 2018 May;89(5):482-487. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/29089398\/\" target=\"_blank\" rel=\"noopener noreferrer\">[Medline]<\/a><\/li>\n<li>Konno T, Ross OA, Teive HAG, S\u0142awek J, Dickson DW, Wszolek ZK. DCTN1-related neurodegeneration: Perry syndrome and beyond.\u00a0Parkinsonism Relat Disord. 2017 Aug;41:14-24.\u00a0<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/28625595\/\" target=\"_blank\" rel=\"noopener noreferrer\">[Medline]<\/a><\/li>\n<li>Gajda Z, Hawrylak M, Handzlik J, Kuder KJ. Perry Disease: Current Outlook and Advances in Drug Discovery Approach to Symptomatic Treatment. Int J Mol Sci. 2024 Oct 3;25(19):10652. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39408987\/\" target=\"_blank\" rel=\"noopener\">[Medline]<\/a><\/li>\n<\/ol>\n<p>&nbsp;<\/p>\n<p>Created Apr 18, 2018.<br \/>\nUp-date Feb 12, 2026.<\/p>\n\n<div style=\"font-size: 0px; height: 0px; line-height: 0px; margin: 0; padding: 0; clear: both;\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Sorry, this entry is only available in Espa\u00f1ol.<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_lmt_disableupdate":"no","_lmt_disable":"no","_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[2],"tags":[16,15,14,13,468,5,4],"class_list":["post-2202","post","type-post","status-publish","format-standard","hentry","category-neurology","tag-criteria","tag-criterios","tag-diagnostic","tag-diagnostico","tag-perry","tag-sindrome","tag-syndrome"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - 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