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Skeletal muscle pathology, 2nd edn.
Book Reviews that Neil Gordon is given a prominent position. He was the first paediatric neurologist in Britain outside London. According to Peter Tizard, Gordon's set-up in Manchester " . . . must be regarded as the best staffed and organized hospital and community-based child neurology service of any health region in the country". Having worked closely with Neil in the 1960s and early 70s, I can vouch for this myself. This is altogether a delightfully informative book which I am sure many will enjoy reading as much as I did. ALAN E. H. EMERY Medical School University of Edinburgh Fundamentals of Genetic Epidemiology. MUIN J. KHOURY, TERRI H. BEATY and BERNICE H. COHEN. Published 1993 by Oxford University Press, New York. ISBN 0-19-505288-9, 383 pp. Price £35. Readers of Neuromuscular Disorders will be only too well aware of the technological revolution which has taken place in molecular genetics during the last 10-15 yr. Specific molecular defects have now been identified in over 300 single-gene disorders; well-defined linkage maps are available for every chromosome; and sequencing of the human genome has moved from the realms of science fiction to become a practical proposition by the turn of the century. This explosion in technology and knowledge has generated an ever-increasing interest in genetics and its role in disease susceptibility to the extent that this interaction of genetic factors with environment in the causation of "common" disorders such as asthma, diabetes and hypertension is now an area of intense research activity. It is this study of the genetic-environmental interface (nature vs nurture) that has spawned the science of genetic epidemiology, which can be defined as being concerned with "the aetiology, distribution and control of disease in groups of relatives and with inherited causes of disease in populations". For those who have struggled to come to terms with the complex mathematical challenges of planning research strategies and analysing results, help is now at hand. Dr Khoury and colleagues have provided us with a detailed and thorough account of this complicated and very important area. Essentially their book consists of three main sections. In the first, entitled "Background and fundamentals", the reader is presented with a
291
reasonably gentle, well-constructed introduction to basic mathematical genetics and epidemiological methodologies. So far, so good. The second section on population studies moves into more complicated territory to consider how a marriage between epidemiology and genetics can tackle the estimation of mutation rates, explore possible disease associations, exclude confounding variables and identify disease-susceptibility genes. This is heady stuff and well worth length scrutiny. In the third section on epidemiological and genetic approaches to familial aggregation the authors bravely grasp the nettles of extremely complex issues such as segregation analysis, heritability and linkage analysis. It is this latter methodology in particular which has underpinned positional cloning strategies over the last decade, leading to isolation of the genes causing many of the disorders which feature prominently in the pages of this journal. This is a scholarly text which helps shed much needed light on a complex subject. As such it will be of considerable value to everyone embarking upon a career in gene cracking and at £35 the price does not seem too excessive. It is a title unfortunate that more attention could not have been paid to the difficulties and controversy surrounding linkage analysis in multifactorial disorders, and a slightly more user-friendly style with less assumption of expert knowledge would also have been helpful. These minor criticisms apart, this will be a very worthwhile addition to the library in every research unit with an interest in genetic disease. IAN D. YOUNG Department of Clinical Genetics City Hospital Nottingham Skeletal Muscle Pathology, 2nd Edn. Edited by FRANK L. MASTAGLIA and LORD WALTON of DETACHANT. Published 1992 by Churchill Livingstone, Edinburgh. ISBN 0 443 04241 1, 800 pp. Price £150. Iris exactly 10 yr since the first edition of Skeletal Muscle Pathology was published, and this new edition will be welcomed by all those who have an interest in neuromuscular disease. It is a multi-author text and contains the experience of a highly respected international group of specialists, which is reflected in the detailed and scholarly presentation of material. The book has grown by 25% in the last decade.
292
Book Reviews
There is a new chapter on muscle biopsy, and 9 new contributors appear, but the remaining 20 chapters have been revised by the original authors. Far from being just the account of muscle pathology that the title suggests, this book devotes considerable attention to fundamental aspects of development, anatomy, biochemistry, immunology and physiology of muscle in health and disease. It thus widens its appeal beyond the neuropathologist or clinician with a specific interest in muscle disease, and is an essential reference text for research scientists, students and general physicians or pathologists who seek an understanding of the mechanisms underlying muscle disease. The first chapter, David Landon's account of normal morphology, development and innervation, is clearly written, detailed and very well referenced. There are some excellent line diagrams, but the electron micrographs are second to none. Every one is crystal clear, sharply focussed and a joy to look at. We have a second chance to enjoy his brilliant electron micrographs in the chapter on mitochondrial disease by John Morgan-Hughes. Unfortunately, the high standard of illustration is not consistent throughout, and some rather poor quality pictures have been allocated whole pages in later chapters. The new chapter describing the technique of muscle biopsy is extremely helpful to the many clinicians and pathologists who perform this task themselves. I wondered if the photograph allowance here was slightly over-generous with no less than five half-plate pictures of the needle biopsy procedure and a further four pictures of the instruments involved! The mitochondrial diseases are dealt with in great depth, and amply and recently referenced. The chapter on immunopathology gives an account of the mechanisms of immunopathology and their relevance to inflammatory myopathies and diseases of the neuromuscular junction. I was disappointed by the coverage given in the Chapter on muscular dystropies to Xp21 dystrophies, where knowledge has advanced so far in the last decade. Dystrophin is mentioned only as part of a final section on pathogenesis of Duchenne and Becker dystrophy, and the discussion of differentiation of muscular dystrophies on purely histopathological grounds has become somewhat redundant since the introduction of immunocytochemical methods for the detection of dystrophin. It is a shame that many of the light micrographs in this chapter are badly
scratched. Dystrophin receives more attention in the comprehensive account of pathological reactions of muscle by Cullen et al., again a beautifully illustrated contribution. Occasional spelling errors and minor omissions have slipped through, but these are not serious complaints. Things are moving fast in molecular biology and myology and it is inevitable that parts of a textbook of this nature are out of date by the time it reaches the bookshops. I do not think this seriously detracts from its value as a worthy companion to any student of skeletal muscle and its disorders who seeks well-referenced and expert fundamental information in the broader aspects of the field. M. V. SQUIER Dept of Neuropathology Radcliffe Infirmary Oxford
Diagnostic Criteria for Neuromuscular Disorders. Edited by ALAN E. H. EMERY. Published 1994, European Neuromuscular Centre, Baarn, The Netherlands. ISBN 90 261 0719 6, 72 pp. Over the last three years or so the European Neuromuscular Centre (ENMC) has organized some 30 Workshops under the direction of Prof. A. E. H. Emery, the Research Director. These Workshops have been attended by over 600 medical scientists from 26 countries. The specific aim has been to encourage collaborative research between expert groups. Each Workshop has established an on-going Consortium composed of the participants under the guidance of a Chairperson(s). Special attention has focused on locating, isolating and characterizing genes for specific neuromuscular disorders. However, such work depends first of all on having agreed and accurate diagnostic criteria for each disease. One of the important tasks of each Consortium has, therefore, been to draw up diagnostic criteria for each disorder based on both clinical and laboratory studies. When a consensus has been reached these criteria have then been submitted for publication in Neuromuscular Disorders. With some editing and updating, these criteria are now reproduced in this booklet, produced by ENMC. For the sake of completeness the current
291
reasonably gentle, well-constructed introduction to basic mathematical genetics and epidemiological methodologies. So far, so good. The second section on population studies moves into more complicated territory to consider how a marriage between epidemiology and genetics can tackle the estimation of mutation rates, explore possible disease associations, exclude confounding variables and identify disease-susceptibility genes. This is heady stuff and well worth length scrutiny. In the third section on epidemiological and genetic approaches to familial aggregation the authors bravely grasp the nettles of extremely complex issues such as segregation analysis, heritability and linkage analysis. It is this latter methodology in particular which has underpinned positional cloning strategies over the last decade, leading to isolation of the genes causing many of the disorders which feature prominently in the pages of this journal. This is a scholarly text which helps shed much needed light on a complex subject. As such it will be of considerable value to everyone embarking upon a career in gene cracking and at £35 the price does not seem too excessive. It is a title unfortunate that more attention could not have been paid to the difficulties and controversy surrounding linkage analysis in multifactorial disorders, and a slightly more user-friendly style with less assumption of expert knowledge would also have been helpful. These minor criticisms apart, this will be a very worthwhile addition to the library in every research unit with an interest in genetic disease. IAN D. YOUNG Department of Clinical Genetics City Hospital Nottingham Skeletal Muscle Pathology, 2nd Edn. Edited by FRANK L. MASTAGLIA and LORD WALTON of DETACHANT. Published 1992 by Churchill Livingstone, Edinburgh. ISBN 0 443 04241 1, 800 pp. Price £150. Iris exactly 10 yr since the first edition of Skeletal Muscle Pathology was published, and this new edition will be welcomed by all those who have an interest in neuromuscular disease. It is a multi-author text and contains the experience of a highly respected international group of specialists, which is reflected in the detailed and scholarly presentation of material. The book has grown by 25% in the last decade.
292
Book Reviews
There is a new chapter on muscle biopsy, and 9 new contributors appear, but the remaining 20 chapters have been revised by the original authors. Far from being just the account of muscle pathology that the title suggests, this book devotes considerable attention to fundamental aspects of development, anatomy, biochemistry, immunology and physiology of muscle in health and disease. It thus widens its appeal beyond the neuropathologist or clinician with a specific interest in muscle disease, and is an essential reference text for research scientists, students and general physicians or pathologists who seek an understanding of the mechanisms underlying muscle disease. The first chapter, David Landon's account of normal morphology, development and innervation, is clearly written, detailed and very well referenced. There are some excellent line diagrams, but the electron micrographs are second to none. Every one is crystal clear, sharply focussed and a joy to look at. We have a second chance to enjoy his brilliant electron micrographs in the chapter on mitochondrial disease by John Morgan-Hughes. Unfortunately, the high standard of illustration is not consistent throughout, and some rather poor quality pictures have been allocated whole pages in later chapters. The new chapter describing the technique of muscle biopsy is extremely helpful to the many clinicians and pathologists who perform this task themselves. I wondered if the photograph allowance here was slightly over-generous with no less than five half-plate pictures of the needle biopsy procedure and a further four pictures of the instruments involved! The mitochondrial diseases are dealt with in great depth, and amply and recently referenced. The chapter on immunopathology gives an account of the mechanisms of immunopathology and their relevance to inflammatory myopathies and diseases of the neuromuscular junction. I was disappointed by the coverage given in the Chapter on muscular dystropies to Xp21 dystrophies, where knowledge has advanced so far in the last decade. Dystrophin is mentioned only as part of a final section on pathogenesis of Duchenne and Becker dystrophy, and the discussion of differentiation of muscular dystrophies on purely histopathological grounds has become somewhat redundant since the introduction of immunocytochemical methods for the detection of dystrophin. It is a shame that many of the light micrographs in this chapter are badly
scratched. Dystrophin receives more attention in the comprehensive account of pathological reactions of muscle by Cullen et al., again a beautifully illustrated contribution. Occasional spelling errors and minor omissions have slipped through, but these are not serious complaints. Things are moving fast in molecular biology and myology and it is inevitable that parts of a textbook of this nature are out of date by the time it reaches the bookshops. I do not think this seriously detracts from its value as a worthy companion to any student of skeletal muscle and its disorders who seeks well-referenced and expert fundamental information in the broader aspects of the field. M. V. SQUIER Dept of Neuropathology Radcliffe Infirmary Oxford
Diagnostic Criteria for Neuromuscular Disorders. Edited by ALAN E. H. EMERY. Published 1994, European Neuromuscular Centre, Baarn, The Netherlands. ISBN 90 261 0719 6, 72 pp. Over the last three years or so the European Neuromuscular Centre (ENMC) has organized some 30 Workshops under the direction of Prof. A. E. H. Emery, the Research Director. These Workshops have been attended by over 600 medical scientists from 26 countries. The specific aim has been to encourage collaborative research between expert groups. Each Workshop has established an on-going Consortium composed of the participants under the guidance of a Chairperson(s). Special attention has focused on locating, isolating and characterizing genes for specific neuromuscular disorders. However, such work depends first of all on having agreed and accurate diagnostic criteria for each disease. One of the important tasks of each Consortium has, therefore, been to draw up diagnostic criteria for each disorder based on both clinical and laboratory studies. When a consensus has been reached these criteria have then been submitted for publication in Neuromuscular Disorders. With some editing and updating, these criteria are now reproduced in this booklet, produced by ENMC. For the sake of completeness the current