The book reviewed here is ‘Huntington’s Disease (2nd Edition)’ edited by Peter Harper. There are 10 authors including Harper who have worked on this book which is impressive in both the breadth and depth of content and despite being dated 1996 in my opinion provides an indispensable starting point and reference work for reading on Huntington’s Disease. Harper introduces the reader to Huntington’s Disease in the first chapter and we see one of the most famous cases in medical history. In a sense, Huntington could almost be considered a child prodigy in medicine since he first saw a family with Huntington’s Disease (HD) as a child and this made a deep impression on him. Indeed such an impression did this make that he succinctly wrote up his clinical experience as well as that of his father and grandfather (both doctors) at the age of 22. This write up was his single contribution to the literature but one that no doubt influenced and continues to influence many lives through the subsequent developments as he was able to bring all of the features of the disease together in his description:
‘It begins as an ordinary chorea might begin, but the irregular and spasmodic action of certain muscles, as of the face, arms etc. These movements gradually increase, when muscles hitherto unaffected take on the spasmodic action, until every muscle in the body becomes affected (excepting the involuntary ones)‘
The early occurrences in East England and spread to New England are discussed as well as some interesting historical insights. There is a look at the naturalistic course of the illness, social and psychological aspects of HD as well as management and therapy including a discussion of the relevant application of UK Mental Health Act (1983) where necessary. The pedigree of the community of afflicted people at Lake Maracaibo, Venezuela was sufficiently large to need to be displayed on several walls (presumably before computers were more widely available). In another chapter there is a look at the epidemiology in different countries and as many of the authors have been successfully involved in research into HD including epidemiological findings in Wales the following interesting suggestion is included-
‘We hope that this account will encourage others by showing what a relatively small and modestly funded group can do by basing its research on the population that it is trying to serve‘
There is a closer look at the genetics of HD followed by an examination of the possible molecular pathophysiology. A chapter on the neurobiology of HD looks at the anatomy followed by models of how HD might manifest through alterations in the function of the Basal Ganglia followed by a look at possible actions at the cellular level. There is then an overview of genetic counselling, with some of the underlying principles and practical aspects of this field and this is followed by a chapter on predictive testing. The authors have also made use of the centennial bibliography on Huntington’s Disease a comprehensive collection of literature to mark the 100th anniversary of the publication Huntington’s paper. I was also interested to read that a small percentage of cases had previously been diagnosed with schizophrenia and the authors comment thus:-
‘It can be concluded that the occurrence of schizophrenic symptoms in patients with organic disease, including HD, could lead to greater understanding of ‘idiopathic’ schizophrenia and is evidence of a syndromal rather than single disease entity concept of schizophrenia‘
This is a comprehensive work on Huntington’s Disease which is an essential reference text for those with an interest in this area.
Huntington’s Disease. Second Edition. Edited by Peter S Harper. Saunders. 1996.
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