{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T21:03:04Z","timestamp":1762376584087,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","issue":"5","funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2019,4,8]]},"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:p>Niemann-Pick type C is an uncommon neurodegenerative lysosomal storage disorder that can cause a progressive neuropsychiatric syndrome associated with supranuclear vertical gaze palsy and a movement disorder. There have been recent developments in testing that make diagnosis easier and new therapies that aim to stabilise the disease process. A new biochemical test to measure serum cholesterol metabolites supersedes the skin biopsy and is practical and robust. It is treatable with miglustat, a drug that inhibits glycosphingolipid synthesis. We describe a patient, aged 22 years, with juvenile-onset Niemann-Pick type C who presented with seizures and a label of \u2018cerebral palsy\u2019. We describe the approach to this syndrome in general, and highlight the classical features and red flags that should alert a neurologist to this treatable condition.<\/jats:p>","DOI":"10.1136\/practneurol-2019-002236","type":"journal-article","created":{"date-parts":[[2019,6,26]],"date-time":"2019-06-26T17:16:06Z","timestamp":1561569366000},"page":"420-423","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":9,"title":["Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7058-7474","authenticated-orcid":false,"given":"Meher","family":"Lad","sequence":"first","affiliation":[{"name":"Department of Clinical Neurosciences, Royal Victoria Infirmary, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rhys H","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Royal Victoria Infirmary, Newcastle upon Tyne, UK"},{"name":"Institute of Neuroscience, Newcastle University Medical School, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirstie","family":"Anderson","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience, Newcastle University Medical School, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy D","family":"Griffiths","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Royal Victoria Infirmary, Newcastle upon Tyne, UK"},{"name":"Institute of Neuroscience, Newcastle University Medical School, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,6,26]]},"reference":[{"doi-asserted-by":"publisher","key":"2025090411315352000_19.5.420.1","DOI":"10.1136\/practneurol-2011-000108"},{"doi-asserted-by":"publisher","key":"2025090411315352000_19.5.420.2","DOI":"10.1038\/gim.2015.25"},{"doi-asserted-by":"crossref","unstructured":"Jahnova H , Dvorakova L , Vlaskova H , et al . 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