{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T15:39:07Z","timestamp":1762875547947,"version":"3.44.0"},"reference-count":14,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:p>Niemann\u2013Pick disease refers to a group of autosomal recessive lipid storage disorders associated with a variable degree of neurological manifestations in addition to other organ involvement. Niemann\u2013Pick disease is divided into types A\u2013C. Of interest to neurologists is Niemann\u2013Pick type C because of the association with neurological manifestations that are not confined to childhood. The clinical presentation of Niemann\u2013Pick type C is variable, depending on age at onset. Neurological symptoms vary with age: hypotonia, delay in developmental motor milestones, falls, seizures, learning difficulties, ataxia with cognitive deficits and psychosis. The definitive diagnosis of Niemann\u2013Pick type C requires demonstration of abnormal intracellular cholesterol trafficking using the \ufb01lipin test. Therapeutic interventions are few but one that is of interest is miglustat, which has been approved for specific treatment of the neurological manifestations. It showed improvement in horizontal saccadic eye movement and a trend towards improvement or stabilisation in swallowing, hearing and walking. Niemann\u2013Pick type C should be considered in patients with early-onset ataxia associated with progressive learning\/cognitive difficulties even in the absence of vertical gaze palsy.<\/jats:p>","DOI":"10.1136\/practneurol-2013-000525","type":"journal-article","created":{"date-parts":[[2013,8,2]],"date-time":"2013-08-02T01:07:03Z","timestamp":1375405623000},"page":"382-385","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":10,"title":["Niemann\u2013Pick type C: a potentially treatable disorder?"],"prefix":"10.1136","volume":"13","author":[{"given":"Ammar","family":"Kheder","sequence":"first","affiliation":[{"name":"Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camilla","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry, Sheffield Children's Hospital, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon","family":"Olpin","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry, Sheffield Children's Hospital, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marios","family":"Hadjivassiliou","sequence":"additional","affiliation":[{"name":"Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,8,1]]},"reference":[{"key":"2025090410274733000_13.6.382.1","first-page":"1","article-title":"Ein unbekanntes Krankheitsbild. 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Niemann-Pick disease type C; a lipid trafficking disorder. In: Scriver CR Beaudet AL Sly WS . eds. The metabolic and molecular bases of inherited disease. 8th edn. 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Miglustat in patients with Niemann-Pick Type C disease (NP-C): a multicentre retrospective survey. 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