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The natural history of Niemann–Pick disease type C in the UK
Author(s) -
Imrie J.,
Dasgupta S.,
Besley G. T. N.,
Harris C.,
Heptinstall L.,
Knight S.,
Vanier M. T.,
Fensom A. H.,
Ward C.,
Jacklin E.,
Whitehouse C.,
Wraith J. E.
Publication year - 2007
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-006-0384-7
Subject(s) - medicine , niemann–pick disease, type c , niemann–pick disease , pediatrics , disease , neurology , natural history , leukodystrophy , lysosomal storage disease , tyrosinemia , age of onset , newborn screening , clinical phenotype , phenotype , psychiatry , genetics , biology , gene , biochemistry , tyrosine
Summary Niemann–Pick disease type C (NPC) is an autosomal recessive, neurovisceral lipid storage disorder. Mutations in two genes ( NPC1 and NPC2 ) 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‐onset 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‐up 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‐neuronopathic 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.