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Wilson’s Disease. Major Problems in Neurology.
  1. M STEPHEN MURPHY, Consultant paediatric gastroenterologist and senior lecturer in paediatrics and child health

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    Wilson’s Disease. Major Problems in Neurology. By Tjaard Hoogenraad. (Pp 210; £45 hardback.) W B Saunders, 1996. ISBN 0-7020-1842-2 .

    Wilson’s disease, although known to every undergraduate, is rarely seen in clinical practice. The modes of clinical presentation are varied, and initial manifestations may be subtle. Highly effective medical treatment is available, which must start early in the course of the disease to prevent irreversible pathological changes, and delayed diagnosis may be disastrous. Patients with unrecognised Wilson’s disease are therefore in great peril. For those willing to commit a few hours to learning more about this fascinating condition, this is the book to read.

    In approximately 200 pages every facet of the disease is covered, from the history of its early recognition, to the cloning of the gene in 1993. Shortly before this discovery, the gene for Menkes’ disease had been cloned, and proved to encode a copper transporting ATPase. In Menkes’ disease, copper export from cells is defective in many tissues, including enterocytes, so copper absorption is impaired. In Wilson’s disease copper absorption is normal, but patients fail to excrete copper in the bile. It therefore seemed reasonable to suspect that the defective gene in Wilson’s disease might also encode a copper transporting protein, and this indeed proved to be the case. The Wilson’s gene was cloned by using a probe from the copper binding region of the Menkes’ disease gene. As is so often the case, identification of the gene and its product leaves many questions unanswered regarding the pathophysiology of the disorder. A number of mutations have been identified, and the relationship between phenotype and mutation is now being explored. One common mutation, for example, is associated with a relatively late disease onset.

    There is an excellent balance between the discussion of fundamental biological issues and clinical aspects. The author expresses a preference for the use of zinc sulphate in treatment, but the alternative approaches to treatment are also discussed. Although this volume is from the Major Problems in Neurology series, the non-neurological aspects of the disorder are well covered. The writing is lucid, and the photographic illustrations are strikingly clear. If you have ever wondered what a Kayser-Fleischer ring looks like, consult this excellent monograph.