{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T12:29:37Z","timestamp":1786969777163,"version":"build-2736575974"},"reference-count":11,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,8,3]]},"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:p>A woman in her late 40s presented with a 1\u2009year history of progressive symmetrical rest tremor, bradykinesia, rigidity, hypophonia and postural instability (Movement Disorder Society-sponsored Revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) III 41) without musculoskeletal symptoms or family history. Routine investigations were unremarkable except low-normal serum alkaline phosphatase (41\u2009U\/L, range 35\u2013104), mild anaemia and vitamin D insufficiency; brain MRI showed blooming in bilateral globus pallidi. Minimal to no improvement observed at 1\u2009month on modest dopaminergic dosing (MDS-UPDRS III 38). Whole-exome sequencing identified a heterozygous pathogenic frameshift variant c.388del (p.Val130Cysfs*1) in ALPL (alkaline phosphatase, liver\/bone\/kidney) gene. In the absence of classical skeletal features and without substrate testing, this finding is suggestive of a possible mild adult hypophosphatasia phenotype. This case highlights a potential association between ALPL variants and parkinsonism and underscores the role of genetic testing in atypical presentations.<\/jats:p>","DOI":"10.1136\/bcr-2025-271629","type":"journal-article","created":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T12:20:18Z","timestamp":1786969218000},"page":"e271629","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Possible adult-onset hypophosphatasia variant presenting as young-onset parkinsonism with limited levodopa responsiveness"],"prefix":"10.1136","volume":"19","author":[{"given":"Biswamohan","family":"Mishra","sequence":"first","affiliation":[{"name":"Neurology, Kalinga Institute of Medical Sciences, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunil Kumar","family":"Jena","sequence":"additional","affiliation":[{"name":"Critical Care Medicine, Kalinga Institute of Medical Sciences, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikhilesh","family":"Pradhan","sequence":"additional","affiliation":[{"name":"Kalinga Institute of Medical Sciences, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1146-2302","authenticated-orcid":false,"given":"Manoj Kumar","family":"Nayak","sequence":"additional","affiliation":[{"name":"Radiodiagnosis, All India Institute of Medical Sciences\u2014Bhubaneswar, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,8,17]]},"reference":[{"key":"2026081705200949000_19.8.e271629.1","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.metabol.2017.08.013","article-title":"Hypophosphatasia","volume":"82","author":"Mornet","year":"2018","journal-title":"Metabolism"},{"key":"2026081705200949000_19.8.e271629.2","first-page":"380","article-title":"Hypophosphatasia","volume":"10","author":"Rockman-Greenberg","year":"2013","journal-title":"Pediatr Endocrinol Rev"},{"key":"2026081705200949000_19.8.e271629.3","doi-asserted-by":"crossref","first-page":"230","DOI":"10.11138\/ccmbm\/2017.14.1.230","article-title":"Hypophosphatasia: clinical manifestation and burden of disease in adult patients","volume":"14","author":"Conti","year":"2017","journal-title":"Clin Cases Miner Bone Metab"},{"key":"2026081705200949000_19.8.e271629.4","unstructured":"Hypophosphatasia presenting as parkinsonism with compound heterozygous mutations in ALPL gene. MDS Abstr. Available: https:\/\/www.mdsabstracts.org\/abstract\/hypophosphatasia-presenting-as-parkinsonism-with-compound-heterozygous-mutations-in-alpl-gene\/ [Accessed 20 Nov 2025]."},{"key":"2026081705200949000_19.8.e271629.5","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1016\/j.parkreldis.2020.07.027","article-title":"A compound heterozygous ALPL variant in a patient with dystonia-parkinsonism and hypointensity in basal ganglia: A case report","volume":"78","author":"Li","year":"2020","journal-title":"Parkinsonism Relat Disord"},{"key":"2026081705200949000_19.8.e271629.6","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27372"},{"key":"2026081705200949000_19.8.e271629.7","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1602422"},{"key":"2026081705200949000_19.8.e271629.8","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-023-06844-1"},{"key":"2026081705200949000_19.8.e271629.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejim.2015.12.019"},{"key":"2026081705200949000_19.8.e271629.10","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-018-4714-3"},{"key":"2026081705200949000_19.8.e271629.11","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.10"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-271629","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T12:20:19Z","timestamp":1786969219000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-271629"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":11,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2026,8,17]]},"published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1136\/bcr-2025-271629"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-271629","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8]]}}}