{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T18:17:17Z","timestamp":1755800237710,"version":"3.37.3"},"reference-count":34,"publisher":"The Korean Movement Disorder Society","issue":"4","license":[{"start":{"date-parts":[[2024,9,19]],"date-time":"2024-09-19T00:00:00Z","timestamp":1726704000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Department of Biotechnology, Government of India","award":["BT\/PR26428\/MED\/12\/783\/2017"],"award-info":[{"award-number":["BT\/PR26428\/MED\/12\/783\/2017"]}]}],"content-domain":{"domain":["e-jmd.org"],"crossmark-restriction":true},"short-container-title":["JMD"],"published-print":{"date-parts":[[2024,10,31]]},"abstract":"<jats:p>Objective  Recessive variants in the PINK1 gene are known causes of early-onset Parkinson\u2019s disease (EOPD). To describe the clinical features and genetic profiles of patients with PINK1-related Parkinson\u2019s disease (PARK-PINK1) mutations.Methods  We conducted a retrospective chart review of the demographic, clinical and genetic details of patients from our database carrying biallelic PINK1 variants.Results  A total of 7 patients whose median age at onset was 33 years (range: 20\u201349) were recruited. All had asymmetrical onset, tremors were present in 4 patients, abnormal posturing was present in 2 patients, and slowness was present in 1 patient. The parkinsonism phenotype was noted in 6 patients (with dystonia in four) and isolated dystonia in one. Among the 6 patients with parkinsonism, five had rest tremors, all had good levodopa responses, and four had motor fluctuations with choreiform dyskinesia. Exome sequencing revealed biallelic pathogenic\/likely pathogenic variants, five of which were novel.Conclusion  PARK-PINK1 presents as an EOPD with tremor-predominant phenotype, good levodopa-responsiveness, early motor fluctuation and dyskinesia. We describe five novel variants in PINK1 gene.<\/jats:p>","DOI":"10.14802\/jmd.24157","type":"journal-article","created":{"date-parts":[[2024,9,19]],"date-time":"2024-09-19T04:42:31Z","timestamp":1726720951000},"page":"436-441","update-policy":"https:\/\/doi.org\/10.14802\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson\u2019s Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature"],"prefix":"10.14802","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-7611-966X","authenticated-orcid":true,"given":"Aravind","family":"Gunasekaran","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3634-2219","authenticated-orcid":true,"given":"Vikram 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