Journal of Inherited Metabolic Disease

, Volume 30, Issue 1, pp 51–59

The natural history of Niemann–Pick disease type C in the UK

  • J. Imrie
  • S. Dasgupta
  • G. T. N. Besley
  • C. Harris
  • L. Heptinstall
  • S. Knight
  • M. T. Vanier
  • A. H. Fensom
  • C. Ward
  • E. Jacklin
  • C. Whitehouse
  • J. E. Wraith
Original Article
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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.

Abbreviations

NPC

Niemann–Pick disease type C

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Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  • J. Imrie
    • 1
  • S. Dasgupta
    • 1
  • G. T. N. Besley
    • 1
  • C. Harris
    • 1
  • L. Heptinstall
    • 1
  • S. Knight
    • 1
  • M. T. Vanier
    • 2
    • 3
  • A. H. Fensom
    • 4
  • C. Ward
    • 4
  • E. Jacklin
    • 1
  • C. Whitehouse
    • 1
  • J. E. Wraith
    • 1
  1. 1.Willink Biochemical Genetics UnitRoyal Manchester Children’s HospitalManchesterUK
  2. 2.Inserm U189, Faculté de Médecine Lyon-SudOullins Cedex
  3. 3.Laboratoire Fondation Gillet-MérieuxCentre Hospitalier Lyon-SudPierre-BéniteFrance
  4. 4.Genetics CentreGuys HospitalLondonUK

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