{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T00:56:04Z","timestamp":1780707364177,"version":"3.54.1"},"reference-count":0,"publisher":"Cambridge University Press (CUP)","issue":"5","license":[{"start":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T00:00:00Z","timestamp":1736985600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT:<\/jats:title><jats:sec id=\"S0317167124003664_as1\"><jats:title>Background:<\/jats:title><jats:p><jats:italic>PRKN<\/jats:italic>-related parkinsonism represents one of the most common types of genetically determined Parkinson\u2019s disease (PD). However, the literature among the Asian ethnicity, particularly in the Indian context, is limited.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167124003664_as2\"><jats:title>Objective:<\/jats:title><jats:p>To study the clinico-genetic profile of patients with <jats:italic>PRKN<\/jats:italic>-related parkinsonism and to review the previously reported cases of <jats:italic>PRKN<\/jats:italic>-related parkinsonism from Asia.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167124003664_as3\"><jats:title>Methods:<\/jats:title><jats:p>A retrospective chart review from a tertiary neurology centre of patients with genetically confirmed <jats:italic>PRKN<\/jats:italic>-related parkinsonism. Additionally, we consolidated the Asian cohort from a detailed systematic review of the literature. We utilised the Movement Disorders Society gene cohort for comparison with the world literature.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167124003664_as4\"><jats:title>Results:<\/jats:title><jats:p>We recruited 16 cases (males = 10, Early onset Parkinson disease (21 to &lt;50 years age at onset)) of <jats:italic>PRKN<\/jats:italic>-related parkinsonism with a median age at onset of 28.5 years (range 14\u201346). Symptoms included parkinsonism (<jats:italic>n<\/jats:italic> = 15), dystonia (<jats:italic>n<\/jats:italic> = 10), postural instability (<jats:italic>n<\/jats:italic> = 7), freezing of gait (<jats:italic>n<\/jats:italic> = 5) and non-motor symptoms (NMS) (<jats:italic>n<\/jats:italic> = 10). The commonest symptom at onset was tremors (<jats:italic>n<\/jats:italic> = 10). Levodopa responsiveness was observed in all cases with drug-induced dyskinesia in eight (50%). Thirteen cases were homozygous, while three were compound heterozygotes, resulting in 19 variants (novel = 5). Exon deletion was the most common (<jats:italic>n<\/jats:italic> = 12). The extended Asian cohort comprising 294 cases had a high prevalence of EOPD (<jats:italic>n<\/jats:italic> = 186\/257, 72.4%) and familial cases (<jats:italic>n<\/jats:italic> = 166\/252, 65.9%). Deletion\/duplication was the common mutation detected (<jats:italic>n<\/jats:italic> = 215, 73.1%). The presumed familial cases had a significantly higher frequency of rest tremors, bradykinesia, postural instability, NMS, dyskinesia and sleep disorders.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167124003664_as5\"><jats:title>Conclusion:<\/jats:title><jats:p>This largest single-centre study from India adds 16 new cases and five novel variants to <jats:italic>PRKN<\/jats:italic> literature. In addition, it consolidates the Asian cohort of <jats:italic>PRKN<\/jats:italic> elucidating its unique attributes.<\/jats:p><\/jats:sec>","DOI":"10.1017\/cjn.2024.366","type":"journal-article","created":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T05:59:38Z","timestamp":1737007178000},"page":"829-840","source":"Crossref","is-referenced-by-count":3,"title":["<i>PRKN<\/i>-Gene-Related Parkinsonism: An Experience from a Tertiary Centre and Literature Review of Asian Cohort"],"prefix":"10.1017","volume":"52","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3634-2219","authenticated-orcid":false,"given":"Vikram V.","family":"Holla","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4835-4698","authenticated-orcid":false,"given":"Debjyoti","family":"Dhar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0982-8192","authenticated-orcid":false,"given":"Prashant","family":"Phulpagar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3367-1455","authenticated-orcid":false,"given":"M.M.","family":"Samim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7769-3330","authenticated-orcid":false,"given":"Sneha D.","family":"Kamath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7933-8826","authenticated-orcid":false,"given":"Nitish","family":"Kamble","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2257-3630","authenticated-orcid":false,"given":"Babylakshmi","family":"Muthusamy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8016-9089","authenticated-orcid":false,"given":"Ravi","family":"Yadav","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4085-2377","authenticated-orcid":false,"given":"Pramod Kumar","family":"Pal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2025,1,16]]},"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167124003664","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T12:37:57Z","timestamp":1754051877000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167124003664\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,16]]},"references-count":0,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["S0317167124003664"],"URL":"https:\/\/doi.org\/10.1017\/cjn.2024.366","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,16]]}}}