- Email: [email protected]
Neurocutaneous disorders
In Context
Books Proteomics of the nervous system
Proteomics of the Nervous System edited by Hans Gerd Nothwang and Steven E Pfeiffer Wiley, 2008. Pp 332. £90. ISBN 978-3-527-31716-5
Proteomics is a novel research field that has received a boost in the post-genomic arena. Proteomics provides opportunities to understand the gap between the apparently small differences in the genetic backgrounds of the nervous systems of different mammals and the large differences in phenotypes. In addition, proteomics is useful for detecting novel, unanticipated mechanisms of nervous system function and neurodegenerative diseases. The field of biomarker research in neurodegenerative diseases will also benefit from proteomic comparisons of patients who have a disease and healthy controls or experimental models. Proteomics of the Nervous System provides a good introduction into this promising field, and is suitable for anyone who wishes to understand better the various aspects of this subject. The book is divided into three parts: an introduction to proteomics; its application in basic neuroscience; and its application for neurodegenerative diseases. The first part provides a comprehensive introduction to basic proteomics technologies. For example, chapter 2 lists the pros and cons of techniques such as 2D gel electrophoresis, electrospray ionisation, and matrix-assisted laser desorption ionisation (MALDI) mass spectrometry. In the second part of the book, the application of proteomics technologies to neuroscience is discussed. The section starts with a chapter on the cellular complexity of the nervous system, which might be superfluous for a neuroscience audience, and the chapters that follow describe the application of proteomics to our understanding of plasma membranes, synaptic vesicles, post-synaptic and synaptic
structures, peptidomics of the CNS, and analysis of posttranslational modifications. These chapters generally provide a good overview of the progression of proteomics studies in these specific areas. Generally, clear examples of the studies and frequently used protocols are given, which give practical guidelines for readers and scientists to initiate experiments. The third part of the book describes the applications of proteomics for research into neurodegenerative disorders and biomarkers. However, these chapters are misfocused on the progression of proteomics, and the reader should rather look to more recent reviews and methodological papers, which are consequently not discussed in the book. For example, although the field of CSF proteomics has undergone rapid development in the past 2 years, the most recent publications cited in the book are from 2006. Some chapters are stronger than others: a couple of times only one or a few examples of neuroproteomics studies are given in a whole chapter. The book would have benefited from a more extensive discussion of the caveats, the frequently occurring technical problems, and what good quality results should look like. However, on the whole, the book gives a good introduction and overview of the field, and how proteomics can be applied to answer questions in basic and applied neuroscience. Therefore, I would recommend it to researchers who wish to start with, but who only just understand, the basics of neuroproteomics studies.
Charlotte E Teunissen [email protected]
Neurocutaneous disorders Neurocutaneous disorders are among the most intriguing in medicine because of their striking clinical morphology and the clinical and therapeutic challenges they frequently pose. This extraordinary book contains 72 chapters, three of which provide in-depth coverage of embryology, skin as a clue to inherited metabolic diseases, and cutaneous markers of neuromuscular disorders. Attractively compiled into just over 1000 pages, this monumental effort is edited and authored by internationally recognised acclaimed specialists. Pivotal chapters include tuberous sclerosis complex, neurocutaneous melanosis, Haberland syndrome, and Leopard syndrome by Sergiusz Jóźwiak; xeroderma pigmentosum by Kenneth Kraemer; phacomatosis pigmentokeratotica by Rudolf Happle; congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome, keratitis-ichthyosis deafness syndrome, 314
Darier’s disease, Papillon-Lefèvre syndrome, RichnerHanhart syndrome, lipofibromatous hamartoma of nerves with macrodactyly, and dyskeratosis congenita by Ramòn Ruiz-Maldonado; and a chapter by the late Robert J Gorlin on the syndrome that bears his name. This work will greatly assist clinicians in understanding and caring for patients with these many disorders. The three original phakomatomes were neurofibromatosis-1, tuberous sclerosis complex and von Hippel-Landau disease. Each of these topics is presented in a concisely written and illustrated chapter with elegantly prepared tables, fundoscopic photos, graphs, clinical photographs, and magnetic resonance, radiographical, and ultrasonographical images. The tuberous sclerosis complex chapter by Jóźwiak and co-workers is exemplary, and the neurofibromatosis-1 chapter by Martino Ruggieri and www.thelancet.com/neurology Vol 8 April 2009
In Context
colleagues is also magnificently prepared. Controversial classification schemes are adroitly handled, and the “Elephant Man syndrome” suitably unmasked. Subtle details are not omitted, including the twin spotting of hypopigmented macules seen in close proximity to caféau-lait spots. Disorders covered range from common and newly recognised syndromes to examples that are particularly salient because early diagnosis can potentially save an individual from lifelong devastating effects of disease progression. A good example of the importance of early identification is the first-rate, well-illustrated chapter by Ignacio Castroviejo and Ruggieri on cerebrotendinous xanthomatosis, a rare treatable autosomal recessive lipid storage disease caused by a deficiency of sterol 27-hydroxylase, a hallmark of which can cause neurological dysfunction. Newly identified neurocutaneous disorders include the speckled lentiginous nevus syndrome and phacomatosis pigmentokeratotica, both originally delineated by Happle, and skillfully reviewed in concisely written and well-illustrated chapters by Ruggieri and by Boente and Happle, respectively. This book will help readers to identify speckled lentiginous nevus syndrome, a disorder with which many are not familiar, by linking papular
speckled lentiginous nevus with ipsilateral neurological findings such as hyperhidrosis, muscular weakness, and dysaesthesia. Another potentially perplexing disorder is the CHILD syndrome, which is detailed meticulously by Ruiz-Maldonado and co-workers in an outstanding chapter with splendid colour illustrations. This book is a superb international accomplishment, and a significant asset for clinicians worldwide. Practically everything of value for each neurocutaneous disorder is included, with epidemiological, cutaneous, neurological, genetic, pathological, radiographical, biochemical, pathogenetic, and diagnostic features, differential diagnoses, and management options all adroitly integrated. The historical aspects divulged for these disorders are also noteworthy. The clinical, radiographical, and other illustrations are of high quality with appropriate choices in colour, although this work would benefit by having all of the clinical cutaneous patient photographs in colour. With this encyclopaedic text in hand, one feels a refreshing sense of confidence in assessing patients with neurocutaneous disorders.
Neurocutaneous Disorders: Phakomatoses and Hamartoneoplastic Syndromes edited by Martino Ruggieri, Ignacio Pascual Castroviejo, Concezio Di Rocco Springer, 2008. Pp 1070. £228·50. ISBN 978-3-21121396-4
Robert Schwartz [email protected]
In early 1896, Babinski outlined the finding that became known as the Babinski sign. With Joseph Babinski, Philippon and Poiriet aim to provide the first significant and authoritative biography of one of the most important pioneers in neurology. Both authors are former heads of department—neurosurgery and histology, respectively—at the Pitié-Salpêtrière Hospital in Paris, where Babinski himself served as head of internal medicine from 1895 to 1922. The book contains several fascinating details: there is a report of the novelist Marcel Proust’s consultation with Babinski, and an account of Babinski’s method of examination—like his mentor, Jean-Martin Charcot, Babinski required patients to present themselves naked. The back cover declares that “the book is written with an easy style which will appeal to readers of biographies of famous men”; presumably, these readers can decipher descriptions such as ”Babinski–Nageotte syndrome is caused by unilateral ischaemic lesions of the medulla oblongata from syphilitic origin, clinically marked by hemiplegia with hemianaesthesia on the opposite side and hemiasynergy with lateropulsion and myosis on the homolateral side”. Readers of biographies of famous men are advised to seek elucidation elsewhere. Even neurologists and medical historians might find there are frustrating omissions. Witness the following explanation of the Dreyfus affair, in which “a young French artillery www.thelancet.com/neurology Vol 8 April 2009
officer was framed for treason”. From these nine words, we are supposed to understand the background to Emile Zola’s famous open letter “J’accuse”, how the repercussions of the affair meant that the country was still characterised by acrimonious politics, and why Jean Louis Fourain (1852– 1931) was prompted to start an antisemitic journal that had the title Psst. A whole chapter lists Babinski’s friends; in another, a chart that stretches over six pages is filled with the names of his students. Some information is presented in a plodding prose, rather akin to a police report: a paragraph on Babinski’s brother is headed “profession: engineer”; elsewhere we are sombrely informed that “there is a good deal of evidence suggesting that Babinski was not devoid of humour”. The chapters on Babinski’s work are slightly stronger, and there is an excellent late entry on “pithiatism versus hysteria”, which is the sole contribution to the book by the neurologist Christian Derousné. Here, the reader obtains a sense of the bustle Babinski worked in and the interplay between the burgeoning fields of neurology and psychoanalysis. But, for the most part, Philippon and Poirier disappointingly fail to bring their subject to life.
Science Photo Library
Joseph Babinski: a biography
Joseph Babinski: A Biography by Jacques Philippon and Jacques Poirier, Oxford University Press, 2009. Pp 472 pages. £26·99. ISBN 978-0-19-536975-5
Talha Burki [email protected]
315
Books Proteomics of the nervous system
Proteomics of the Nervous System edited by Hans Gerd Nothwang and Steven E Pfeiffer Wiley, 2008. Pp 332. £90. ISBN 978-3-527-31716-5
Proteomics is a novel research field that has received a boost in the post-genomic arena. Proteomics provides opportunities to understand the gap between the apparently small differences in the genetic backgrounds of the nervous systems of different mammals and the large differences in phenotypes. In addition, proteomics is useful for detecting novel, unanticipated mechanisms of nervous system function and neurodegenerative diseases. The field of biomarker research in neurodegenerative diseases will also benefit from proteomic comparisons of patients who have a disease and healthy controls or experimental models. Proteomics of the Nervous System provides a good introduction into this promising field, and is suitable for anyone who wishes to understand better the various aspects of this subject. The book is divided into three parts: an introduction to proteomics; its application in basic neuroscience; and its application for neurodegenerative diseases. The first part provides a comprehensive introduction to basic proteomics technologies. For example, chapter 2 lists the pros and cons of techniques such as 2D gel electrophoresis, electrospray ionisation, and matrix-assisted laser desorption ionisation (MALDI) mass spectrometry. In the second part of the book, the application of proteomics technologies to neuroscience is discussed. The section starts with a chapter on the cellular complexity of the nervous system, which might be superfluous for a neuroscience audience, and the chapters that follow describe the application of proteomics to our understanding of plasma membranes, synaptic vesicles, post-synaptic and synaptic
structures, peptidomics of the CNS, and analysis of posttranslational modifications. These chapters generally provide a good overview of the progression of proteomics studies in these specific areas. Generally, clear examples of the studies and frequently used protocols are given, which give practical guidelines for readers and scientists to initiate experiments. The third part of the book describes the applications of proteomics for research into neurodegenerative disorders and biomarkers. However, these chapters are misfocused on the progression of proteomics, and the reader should rather look to more recent reviews and methodological papers, which are consequently not discussed in the book. For example, although the field of CSF proteomics has undergone rapid development in the past 2 years, the most recent publications cited in the book are from 2006. Some chapters are stronger than others: a couple of times only one or a few examples of neuroproteomics studies are given in a whole chapter. The book would have benefited from a more extensive discussion of the caveats, the frequently occurring technical problems, and what good quality results should look like. However, on the whole, the book gives a good introduction and overview of the field, and how proteomics can be applied to answer questions in basic and applied neuroscience. Therefore, I would recommend it to researchers who wish to start with, but who only just understand, the basics of neuroproteomics studies.
Charlotte E Teunissen [email protected]
Neurocutaneous disorders Neurocutaneous disorders are among the most intriguing in medicine because of their striking clinical morphology and the clinical and therapeutic challenges they frequently pose. This extraordinary book contains 72 chapters, three of which provide in-depth coverage of embryology, skin as a clue to inherited metabolic diseases, and cutaneous markers of neuromuscular disorders. Attractively compiled into just over 1000 pages, this monumental effort is edited and authored by internationally recognised acclaimed specialists. Pivotal chapters include tuberous sclerosis complex, neurocutaneous melanosis, Haberland syndrome, and Leopard syndrome by Sergiusz Jóźwiak; xeroderma pigmentosum by Kenneth Kraemer; phacomatosis pigmentokeratotica by Rudolf Happle; congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome, keratitis-ichthyosis deafness syndrome, 314
Darier’s disease, Papillon-Lefèvre syndrome, RichnerHanhart syndrome, lipofibromatous hamartoma of nerves with macrodactyly, and dyskeratosis congenita by Ramòn Ruiz-Maldonado; and a chapter by the late Robert J Gorlin on the syndrome that bears his name. This work will greatly assist clinicians in understanding and caring for patients with these many disorders. The three original phakomatomes were neurofibromatosis-1, tuberous sclerosis complex and von Hippel-Landau disease. Each of these topics is presented in a concisely written and illustrated chapter with elegantly prepared tables, fundoscopic photos, graphs, clinical photographs, and magnetic resonance, radiographical, and ultrasonographical images. The tuberous sclerosis complex chapter by Jóźwiak and co-workers is exemplary, and the neurofibromatosis-1 chapter by Martino Ruggieri and www.thelancet.com/neurology Vol 8 April 2009
In Context
colleagues is also magnificently prepared. Controversial classification schemes are adroitly handled, and the “Elephant Man syndrome” suitably unmasked. Subtle details are not omitted, including the twin spotting of hypopigmented macules seen in close proximity to caféau-lait spots. Disorders covered range from common and newly recognised syndromes to examples that are particularly salient because early diagnosis can potentially save an individual from lifelong devastating effects of disease progression. A good example of the importance of early identification is the first-rate, well-illustrated chapter by Ignacio Castroviejo and Ruggieri on cerebrotendinous xanthomatosis, a rare treatable autosomal recessive lipid storage disease caused by a deficiency of sterol 27-hydroxylase, a hallmark of which can cause neurological dysfunction. Newly identified neurocutaneous disorders include the speckled lentiginous nevus syndrome and phacomatosis pigmentokeratotica, both originally delineated by Happle, and skillfully reviewed in concisely written and well-illustrated chapters by Ruggieri and by Boente and Happle, respectively. This book will help readers to identify speckled lentiginous nevus syndrome, a disorder with which many are not familiar, by linking papular
speckled lentiginous nevus with ipsilateral neurological findings such as hyperhidrosis, muscular weakness, and dysaesthesia. Another potentially perplexing disorder is the CHILD syndrome, which is detailed meticulously by Ruiz-Maldonado and co-workers in an outstanding chapter with splendid colour illustrations. This book is a superb international accomplishment, and a significant asset for clinicians worldwide. Practically everything of value for each neurocutaneous disorder is included, with epidemiological, cutaneous, neurological, genetic, pathological, radiographical, biochemical, pathogenetic, and diagnostic features, differential diagnoses, and management options all adroitly integrated. The historical aspects divulged for these disorders are also noteworthy. The clinical, radiographical, and other illustrations are of high quality with appropriate choices in colour, although this work would benefit by having all of the clinical cutaneous patient photographs in colour. With this encyclopaedic text in hand, one feels a refreshing sense of confidence in assessing patients with neurocutaneous disorders.
Neurocutaneous Disorders: Phakomatoses and Hamartoneoplastic Syndromes edited by Martino Ruggieri, Ignacio Pascual Castroviejo, Concezio Di Rocco Springer, 2008. Pp 1070. £228·50. ISBN 978-3-21121396-4
Robert Schwartz [email protected]
In early 1896, Babinski outlined the finding that became known as the Babinski sign. With Joseph Babinski, Philippon and Poiriet aim to provide the first significant and authoritative biography of one of the most important pioneers in neurology. Both authors are former heads of department—neurosurgery and histology, respectively—at the Pitié-Salpêtrière Hospital in Paris, where Babinski himself served as head of internal medicine from 1895 to 1922. The book contains several fascinating details: there is a report of the novelist Marcel Proust’s consultation with Babinski, and an account of Babinski’s method of examination—like his mentor, Jean-Martin Charcot, Babinski required patients to present themselves naked. The back cover declares that “the book is written with an easy style which will appeal to readers of biographies of famous men”; presumably, these readers can decipher descriptions such as ”Babinski–Nageotte syndrome is caused by unilateral ischaemic lesions of the medulla oblongata from syphilitic origin, clinically marked by hemiplegia with hemianaesthesia on the opposite side and hemiasynergy with lateropulsion and myosis on the homolateral side”. Readers of biographies of famous men are advised to seek elucidation elsewhere. Even neurologists and medical historians might find there are frustrating omissions. Witness the following explanation of the Dreyfus affair, in which “a young French artillery www.thelancet.com/neurology Vol 8 April 2009
officer was framed for treason”. From these nine words, we are supposed to understand the background to Emile Zola’s famous open letter “J’accuse”, how the repercussions of the affair meant that the country was still characterised by acrimonious politics, and why Jean Louis Fourain (1852– 1931) was prompted to start an antisemitic journal that had the title Psst. A whole chapter lists Babinski’s friends; in another, a chart that stretches over six pages is filled with the names of his students. Some information is presented in a plodding prose, rather akin to a police report: a paragraph on Babinski’s brother is headed “profession: engineer”; elsewhere we are sombrely informed that “there is a good deal of evidence suggesting that Babinski was not devoid of humour”. The chapters on Babinski’s work are slightly stronger, and there is an excellent late entry on “pithiatism versus hysteria”, which is the sole contribution to the book by the neurologist Christian Derousné. Here, the reader obtains a sense of the bustle Babinski worked in and the interplay between the burgeoning fields of neurology and psychoanalysis. But, for the most part, Philippon and Poirier disappointingly fail to bring their subject to life.
Science Photo Library
Joseph Babinski: a biography
Joseph Babinski: A Biography by Jacques Philippon and Jacques Poirier, Oxford University Press, 2009. Pp 472 pages. £26·99. ISBN 978-0-19-536975-5
Talha Burki [email protected]
315