{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T10:49:01Z","timestamp":1792838941489,"version":"4.5.0"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,12,11]],"date-time":"2006-12-11T00:00:00Z","timestamp":1165795200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Niemann\u2013Pick disease type C (NPC) is an autosomal recessive, neurovisceral lipid storage disorder. Mutations in two genes (<jats:italic>NPC1<\/jats:italic> and <jats:italic>NPC2<\/jats:italic>) produce indistinguishable clinical phenotypes by biochemical mechanisms that have not yet been entirely clarified. The wide spectrum of clinical presentations of NPC includes hepatic and pulmonary disease as well as a range of neuropsychiatric disorders. Late\u2010onset disease has been increasingly recognized as the biochemical diagnosis of NPC has been more widely applied in adult neurology clinics. The clinical presentation and follow\u2010up of 94 patients with NPC is described, 58 of whom were still alive at the time this report was prepared. The age at diagnosis ranged from the prenatal period (with hydrops fetalis) up to 51 years. This review of NPC patients in the UK confirms the phenotypic variability of this inherited lipid storage disorder reported elsewhere. Although a non\u2010neuronopathic variant has been described, most patients in this series who survived childhood inevitably suffered neurological and in some cases neuropsychiatric deterioration. While symptomatic treatment, such as anticholinergic and antiepileptic drugs, can alleviate some aspects of the disease, there is a clear need to develop a specific treatment for this progressively debilitating neurodegenerative disorder.<\/jats:p>","DOI":"10.1007\/s10545-006-0384-7","type":"journal-article","created":{"date-parts":[[2006,12,11]],"date-time":"2006-12-11T08:53:06Z","timestamp":1165827186000},"page":"51-59","source":"Crossref","is-referenced-by-count":116,"title":["The natural history of Niemann\u2013Pick disease type C in the UK"],"prefix":"10.1002","volume":"30","author":[{"given":"J.","family":"Imrie","sequence":"first","affiliation":[{"name":"Willink Biochemical Genetics Unit Royal Manchester Children's Hospital Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Dasgupta","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit Royal Manchester Children's Hospital Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. 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