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• W1977416062 abstract "Book Review: Juvenile Huntington’s Disease and Other Trinucleotide Repeat Disorders Edited by Oliver W. J. Quarrell, Helen M. Brewer, Ferdinando Squitieri, Roger A. Barker, Martha A. Nance, G. Bernhard Landwehrmeyer Oxford : Oxford University Press , 2009 £49.95 (Hardback) , 200 pages ISBN 9780199236121 This multi-author volume arose out of a European Huntington’s Disease Network (EHDN) meeting in November 2006 and sets out what is known and what is not known about juvenile Huntington’s disease. The title is slightly misleading as the book does not discuss all trinucleotide repeat disorders but only Huntington's disease and those associated with autosomal dominant ataxias. Within this group the focus is on those with polyglutamate expansions and, of these, very helpful descriptions are given of those associated with a young age at onset (chapter 8). The first two chapters contain accounts of the experiences of families with juveniles affected by the disease – chapter 1 contains a short account provided by a 23-year-old sufferer followed by the accounts of five parents and one older ‘sibling’ who was not at-risk herself. These relate to problems encountered in the early stages of the disease. Some families were dealing with more than one affected child and an affected parent. The accounts are extremely moving. Chapter 2 contains accounts from five parents of their experiences of the late/end stage of the disease in their child. Chapter 11 provides a scientific account of family experiences based on qualitative research in the UK with 12 carers. How is juvenile Huntington's disease defined? This is arbitrary and even the authors in this volume seem unclear. Two define it as Huntington's disease with onset before age 21 years (chapters 4 and 7) and two as onset before age 20 years (preface and chapter 3). Chapter 3 reviews the history of the descriptions in the literature of early-onset Huntington's disease and the author remarks, ‘Nobody knows when this (age) limit was introduced’! The book recognizes another arbitrary distinction which the authors term ‘infantile Huntington's disease’, indicating onset before 10 years of age. The differences in presentation between childhood-onset and adult-onset Huntington's disease are well known and emphasized throughout. There is not much support for the belief that juvenile Huntington's disease progresses more rapidly than adult-onset Huntington's disease. It may be different for those who develop it very early in life but more data are needed. In terms of monitoring disease progression, chapter 12 presents a suggested amendment to the Huntington's disease assessment tool for juvenile Huntington's disease – especially to include the rigid, hypokinetic presentation and the functional effect that is different from adults. This is being piloted by EHDN. There is a very useful guide to motor assessment for the non-specialist. A review of the neuropathology based on a series of 50 cases is given in chapter 5 followed by a detailed update in chapters 6 and 7 of the molecular genetics and our current knowledge of molecular pathology from the study of rodent models. The problems of early diagnosis and the clinical dilemma of interpreting non-specific symptoms in the young child are discussed. If a molecular test is performed in these circumstances, the real difficulties in interpreting the test result are explained. Once a diagnosis has been achieved, advice on management is given stressing the need for a multidisciplinary approach. This very useful volume achieves what it sets out to – a starting point for those caring for patients with juvenile Huntington's disease and their families and for researchers in the field." @default.
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• W1977416062 title "Book Review: Juvenile Huntington’s Disease and Other Trinucleotide Repeat Disorders" @default.
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