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Oliver Quarrell - Huntingtons Disease

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Oliver Quarrell Huntingtons Disease

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the facts Huntingtons disease also available in thefacts series Borderline - photo 1
the facts
Huntingtons disease

Picture 2 also available in thefacts series

Borderline Personality Disorder: the facts

Krawitz and Jackson

Inflammatory Bowel Disease: the facts

Langmead and Irving

Back Pain: the facts

Lee, Brook, and Daniel

Stroke: the facts

SECOND EDITION

Lindley

Alcoholism: the facts

FOURTH EDITION

Manzardo, Goodwin, Campbell, Penick, and Gabrelli

Prostate cancer: the facts

SECOND EDITION

Mason and Moffat

Diabetes: the facts

Matthews, Meston, Dyson, Shaw, King, and Pal

Essential tremor: the facts

Plumb and Bain

Osteoarthritis: the facts

SECOND EDITION

Prieto-Alhambra, Arden, and Hunter

Huntingtons Disease: the facts

THIRD EDITION

Oliver Quarrell

Panic disorder: the facts

THIRD EDITION

Rachman and de Silva

Obsessive-compulsive disorder: the facts

FOURTH EDITION

Rachman and de Silva

Post-traumatic Stress: the facts

SECOND EDITION

Regel and Joseph

Tourette syndrome: the facts

SECOND EDITION

Robertson and Cavanna

Breast Cancer: the facts

SECOND EDITION

Saunders, Jassal, and Lim

Dyslexia and other learning difficulties: the facts

THIRD EDITION

Selikowitz

Down Syndrome: the facts

THIRD EDITION

Selikowitz

ADHD: the facts

SECOND EDITION

Selikowitz

Sleep problems in Children and Adolescents: the facts

Stores

Motor neuron disease: the facts

Talbot and Marsden

Cystic fibrosis: the facts

FOURTH EDITION

Thomson and Harris

Thyroid disease: the facts

FOURTH EDITION

Vanderpump and Tunbridge

Depression: the facts

SECOND EDITION

Wassermann

Cosmetic surgery: the facts

Waterhouse

Huntingtons Disease - image 3

Great Clarendon Street, Oxford, OX2 6DP,

United Kingdom

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It furthers the Universitys objective of excellence in research, scholarship, and education by publishing worldwide. Oxford is a registered trade mark of Oxford University Press in the UK and in certain other countries

Oxford University Press 2021

The moral rights of the author have been asserted

First Edition published in 1999

Second Edition published in 2008

Third Edition published in 2021

Impression: 1

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Published in the United States of America by Oxford University Press

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Library of Congress Control Number: 2020943289

ISBN 9780198844389

eISBN 9780192582744

Oxford University Press makes no representation, express or implied, that the drug dosages in this book are correct. Readers must therefore always check the product information and clinical procedures with the most up-to-date published product information and data sheets provided by the manufacturers and the most recent codes of conduct and safety regulations. The authors and the publishers do not accept responsibility or legal liability for any errors in the text or for the misuse or misapplication of material in this work. Except where otherwise stated, drug dosages and recommendations are for the non-pregnant adult who is not breast-feeding

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Contents

Huntingtons disease is a rare and complex illness. This book offers a comprehensive oversight of the illness, its symptoms and treatment as well as an insight to the genetics of the disease and genetic testing. It is a valuable resource for anyone who treats people affected by Huntingtons disease.

Cath Stanley

Chief Executive,

Huntingtons Disease Association, UK

Huntingtons Disease: The Facts explains key concepts about Huntingtons disease in a user-friendly way that can be understood without the need for a medical or science background. In twelve concise chapters it covers topics ranging from the genetics and clinical manifestation of the condition to what laboratory tests mean and the direction of the latest clinical research. The latest edition of this much appreciated book has now been updated to include important advances in this fast-moving field. It represents essential reading for families with the condition, but would provide an ideal introduction for anyone new to this area.

Anne Rosser

Chair of the Executive Committee,

European Huntingtons Disease Network

This concise and accessible book is an essential gateway for anyone who seeks to improve their understanding of Huntingtons disease. Drawing on his extensive experience as a geneticist and HD clinician, Dr Quarrell has updated The Facts to reflect the rapid changes in understanding and managing Huntingtons disease in the context of the current global clinical research effort to find disease modifying treatments. I do not think there is a better introduction to this complex condition.

John Eden

CEO, Scottish Huntingtons Association

I would like to thank Oxford University Press for agreeing to publish a third edition of this book. I was pleased to be able to write a second edition but with time it has become dated. Looking back at the earlier versions of the book it is interesting to note how the focus has changed. The gene was identified in 1993 and the focus was on predictive testing. This remains an important clinical activity. For well over two decades the focus has been, and for that matter continues to be, studying the function of protein huntingtin and its interactions with other proteins. This led to some clinical trials. Despite this huge research activity, treatment continues to be symptomatic and supportive. Whilst it is important to provide good supportive care, the ultimate goal is to have a treatment which alters the natural history of HD; this means slowing down the disease progression and/or delaying the onset.

For the present, the focus is on the study of huntingtin lowering treatments. It will require a little more time to know if they are going to be effective. I hope this small book will continue to be a source of information to families and carers. Only time will tell if future editions can address the issue of treatments which alter the natural history.

I would like to thank my colleague Martha Nance for a contribution on treatment and to Alan Adam and Gillian McNab for new perspectives which have been included in this edition.

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