{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T15:26:43Z","timestamp":1787758003186,"version":"build-2784847793"},"reference-count":12,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>To characterize the first patient of Perry syndrome reported from India.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>A 62-year-old gentleman presented with acute encephalopathy, hypercapnia, central hypoventilation, and seizures. He required ventilatory support for persistent respiratory failure even after the resolution of the encephalopathy. History revealed symptoms of orthostatic hypotension, episodes of shallow breathing, unsteadiness of gait, anxiety and depression, and significant weight loss for the previous two years. His mother and elder brother had succumbed to a similar illness. Investigations for neuromuscular diseases, including myasthenia and Pompes disease, were negative. Genetic tests for muscular dystrophies and myopathies, investigations for infectious, autoimmune, and para-neoplastic diseases were negative. Neuroimaging and electrophysiological studies were unremarkable. During his hospital stay, he developed rigidity and bradykinesia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>In view of the prominent respiratory failure, Parkinsonism, unexplained weight loss, and family history, he was tested for Perry syndrome. A heterozygous missense variation in Exon 2 of the DCTN1 gene that results in the substitution of Proline for Alanine at codon 45 (pA45P) was detected. This variant was not detected in his clinically unaffected brother. The clinical presentation and genetic test indicate Perry syndrome, a rare autosomal dominant fatal disease, which has never been reported from India. The patient improved with Levodopa and neurorehabilitation but eventually succumbed to his illness three years later.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Perry syndrome, though rare, should be considered in the differential diagnosis of patients with a family history of Parkinsonism and central hypoventilation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/aian.aian_890_21","type":"journal-article","created":{"date-parts":[[2022,6,21]],"date-time":"2022-06-21T08:58:57Z","timestamp":1655801937000},"page":"703-706","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":4,"title":["Perry Syndrome with a Novel Mutation and a Rare Presentation"],"prefix":"10.4103","volume":"25","author":[{"given":"Pramod","family":"Krishnan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gosala R. K.","family":"Sarma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uday","family":"Murgod","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murali","family":"Srinivas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajit K.","family":"Roy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-23-20260807","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1001\/archneur.1975.00490440058009","article-title":"Hereditary mental depression and Parkinsonism with taurine deficiency","volume":"32","author":"Perry","year":"1975","journal-title":"Arch Neurol"},{"key":"R2-23-20260807","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1136\/jnnp-2017-316864","article-title":"Establishing diagnostic criteria for Perry syndrome","volume":"89","author":"Mishima","year":"2018","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"R3-23-20260807","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.parkreldis.2008.07.005","article-title":"Pallidonigral TDP-43 pathology in Perry syndrome","volume":"15","author":"Wider","year":"2009","journal-title":"Parkinsonism Relat Disord"},{"key":"R4-23-20260807","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1002\/mds.22950","article-title":"Perry syndrome due to the DCTN1 G71R mutation: A distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure","volume":"25","author":"Newsway","year":"2010","journal-title":"Mov Disord"},{"key":"R5-23-20260807","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1001\/jamaneurol.2013.5100","article-title":"DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes","volume":"71","author":"Caroppo","year":"2014","journal-title":"JAMA Neurol"},{"key":"R6-23-20260807","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1016\/j.parkreldis.2014.05.004","article-title":"Three families with Perry syndrome from distinct parts of the world","volume":"20","author":"Tacik","year":"2014","journal-title":"Parkinsonism Relat Disord"},{"key":"R7-23-20260807","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.parkreldis.2014.01.010","article-title":"Expansion of the clinicopathological and mutational spectrum of Perry syndrome","volume":"20","author":"Chung","year":"2014","journal-title":"Parkinsonism Relat Disord"},{"key":"R8-23-20260807","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1016\/j.parkreldis.2010.07.001","article-title":"Autonomic failures in Perry syndrome with DCTN1 mutation","volume":"16","author":"Ohshima","year":"2010","journal-title":"Parkinsonism Relat Disord"},{"key":"R9-23-20260807","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/ng.293","article-title":"DCTN1 mutations in Perry syndrome","volume":"41","author":"Farrer","year":"2009","journal-title":"Nat Genet"},{"key":"R10-23-20260807","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/ng1123","article-title":"Mutant dynactin in motor neuron disease","volume":"33","author":"Puls","year":"2003","journal-title":"Nat Genet"},{"key":"R11-23-20260807","doi-asserted-by":"crossref","first-page":"2024","DOI":"10.1212\/WNL.0b013e3181a92c4c","article-title":"Characterization of DCTN1 genetic variability in neurodegeneration","volume":"72","author":"Vilari\u00f1o-G\u00fcell","year":"2009","journal-title":"Neurology"},{"key":"R12-23-20260807","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1002\/mds.25833","article-title":"A novel DCTN1 mutation with late-onset Parkinsonism and frontotemporal atrophy","volume":"29","author":"Araki","year":"2014","journal-title":"Mov Disord"}],"container-title":["Annals of Indian Academy of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_890_21","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T15:01:24Z","timestamp":1787756484000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_890_21"}},"subtitle":["First Report from India"],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.4103\/aian.aian_890_21","relation":{},"ISSN":["0972-2327"],"issn-type":[{"value":"0972-2327","type":"print"}],"subject":[],"published":{"date-parts":[[2022,7]]}}}