Michael Baraitser – författare

BACK COVER COPY This third edition of The Genetics of Neurological Disorders incorporates the recent advances in genetics and molecular genetics into this comprehensive classic work. The classification of diseases within the text has been updated in line with the change in practice necessitated by these recent advances. Invaluable for both the geneticist and the neurologist, this book provides up-to-date information about counselling recurrence risks across the wide range of conditions seen by both the adult and paediatric neurologist. Each condition is covered in a way that helps the clinician reach a diagnosis before counselling, and carrier detection and prenatal diagnosis are also discussed for many conditions. Reviews of previous editions: '...coherent, well organised, extremely well-documented work....This is a fine book to take to the clinic as well as the library' New England Journal of Medicine 'No neurologist will care to function from now on without ready access to this book, and it will be consulted by all clinical geneticists.' Annals of Human Genetics 'The strength of this book lies in the scholarly treatment of both old and new literature pertaining to familial neurological diseases. This book can heartily be recommended to the clinician seeking information on the genetics of neurological disease.' Brain 'As a comprehensive source of reference it is unrivalled... a unique compilation of great importance which sets out all the current information about genetic elements, markers and calculations of risk. No neurologist can afford to be without a copy close to hand.' Journal of Neurology, Neurosurgery and Psychiatry NOT on Back cover - Additional reviews 'This edition has grown by 257 worthwhile pages' British Medical Journal on 2e 'The book is very successful indeed, combining a rigorous academic analysis of evidence for any genetic statement with clear English.' Archives of Disease in Childhood on 1e '...encyclopaedic coverage of the literature, ranging from major studies of larger populations to single families exhibiting obscure conditions...' Journal of Nervous and Mental Diseases on 1e 'The book is a comprehensive compendium which presents the facts clearly' Developmental Medicine and Child Neurology on 1e '...the best of its kind...with wonderfully succinct summaries and replete with over 200pp of references... outstanding value...it will deservedly find itself very widely used and referred to with pleasure, providing as it does so lucid and informative a guide to a complex and painful subject matter.' Genetic Research, Cambridge on 2e

The size of the problem, can be assessed This book is an off-shoot of the computerized from the following. Of 50 children bom, 1 London Dysmorphology Database which is now widely used by many geneticists and will have an easily detectable major malfor­ mation. Many of these will have a single dysmorphologists. Both the database and this malformation, but in the region of 8 in 1000 book have arisen out of a need to cope with the ever increasing nurober of multiple will have multiple abnormalities. This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and where infor­ mation can be found in the Iiterature. Indeed rest needing tobe diagnosed by other means. there are more than 2000 non-chromosomal It is to the diagnosis of this latter group that this book is dedicated. multiple malformation syndromes to which access is essential. If computerized databases have solved THE DIAGNOSIS OF DYSMORPHIC some of the problems, why is there a need SYNDROMES for this book? There are many physicians who do not have a desk computer or do not History feel at ease in using one. In addition geneticists are doing more satellite clinics and Before identifying the specific dysmorphic in some circumstances it would be more features, at least a three generation family history needs to be taken. It is necessary to convenient to carry a book than a computer.

The size of the problem, can be assessed This book is an off-shoot of the computerized from the following. Of 50 children bom, 1 London Dysmorphology Database which is now widely used by many geneticists and will have an easily detectable major malfor­ mation. Many of these will have a single dysmorphologists. Both the database and this malformation, but in the region of 8 in 1000 book have arisen out of a need to cope with the ever increasing nurober of multiple will have multiple abnormalities. This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and where infor­ mation can be found in the Iiterature. Indeed rest needing tobe diagnosed by other means. there are more than 2000 non-chromosomal It is to the diagnosis of this latter group that this book is dedicated. multiple malformation syndromes to which access is essential. If computerized databases have solved THE DIAGNOSIS OF DYSMORPHIC some of the problems, why is there a need SYNDROMES for this book? There are many physicians who do not have a desk computer or do not History feel at ease in using one. In addition geneticists are doing more satellite clinics and Before identifying the specific dysmorphic in some circumstances it would be more features, at least a three generation family history needs to be taken. It is necessary to convenient to carry a book than a computer.