Genetics of Movement Disorders

✍ Scribed by Stefan-M. Pulst (Eds.)

• Publisher: Academic Press
• Year: 2002
• Tongue: English
• Leaves: 547
• Category: Library

✦ Synopsis

• ''...this is without a doubt one of the best comprehensive and up-to-date reviews of any complex group of condition, each written by an expert in a particular disorder. Any neurologist or neuroscientist involved in the field should have a copy for reference.'' -NEUROMUSCULAR DISORDERS (March 2003) ''...a particularly nice feature of this book is that if gives one a feel for where the research is going and how it is being organised on an international basis, so there is plenty here for the neuroscientist. However, Stephan Pulst's book also has an important place as a clinical handbook, with detailed descriptions of the relationship of genotype to phenotype and discussion of the use of molecular genetics for diagnostic testing. This makes it an important reference book for anyone involved in the clinical diagnosis of movement disorders.'' --HUMAN GENETICS (2004) 114:605
  

✦ Table of Contents

Content:
Contributors, Pages xv-xvii
Foreword, Page xix, Stanley Fahn
Preface, Page xxi, Stefan-M. Pulst
Chapter 1 - Introduction to Medical Genetics and Methods of DNA Testing, Pages 1-18, Stefan-M. Pulst
Chapter 2 - Inherited Ataxias: An Introduction, Pages 19-34, Stefan-M. Pulst
Chapter 3 - Spinocerebellar Ataxia 1 (SCA1), Pages 35-43, Harry T. Orr
Chapter 4 - Spinocerebellar Ataxia 2 (SCA2), Pages 45-56, Stefan-M. Pulst
Chapter 5 - Spinocerebellar Ataxia 3—Machado-Joseph Disease (SCA3), Pages 57-69, Henry Paulson, S.H. Subramony
Chapter 6 - Spinocerebellar Ataxia Type 4 (SCA4), Pages 71-73, Hidehiro Mizusawa
Chapter 7 - Spinocerebellar Ataxia 5 (SCA5), Pages 75-80, Laura P.W. Ranum, Katherine A. Dick, J.W. Day
Chapter 8 - Spinocerebellar Ataxia 6 (SCA6), Pages 81-84, Joanna C. Jen
Chapter 9 - Spinocerebellar Ataxia 7 (SCA7), Pages 85-94, Anne-Sophie Lebre, Giovanni Stevanin, Alexis Brice
Chapter 10 - Spinocerebellar Ataxia 8 (SCA8), Pages 95-102, Michael D. Koob
Chapter 11 - Spinocerebellar Ataxia 10 (SCA10), Pages 103-116, Tohru Matsuura, Tetsuo Ashizawa
Chapter 12 - Spinocerebellar Ataxia 11 (SCA11), Pages 117-119, Hema Vakharia, Min-Kyu Oh, Stefan-M. Pulst
Chapter 13 - Spinocerebellar Ataxia 12 (SCA12), Pages 121-132, Susan E. Holmes, Elizabeth O'Hearn, Samir K. Brahmachari, Shweta Choudhry, Achal K. Srivastava, Satish Jain, Christopher A. Ross, Russell L. Margolis
Chapter 14 - Spinocerebellar Ataxia 13, 14, and 16, Pages 133-138, Hiroto Fujigasaki, Giovanni Stevanin, Alexandra Dürr, Alexis Brice
Chapter 15 - Spinocerebellar Ataxia 17 (SCA17), Pages 139-141, Shoji Tsuji
Chapter 16 - Dentatorubral-Pallidoluysian Atrophy (DRPLA), Pages 143-150, Shoji Tsuji
Chapter 17 - Ataxia in Prion Diseases, Pages 151-163, Lev G. Goldfarb
Chapter 18 - Friedreich Ataxia, Pages 165-178, Massimo Pandolfo
Chapter 19 - Familial Ataxia with Isolated Vitamin E Deficiency (AVED), Pages 179-187, Faycal Hentati, Sana Gabsi-Gherairi, Rim Amouri, Samir Belal, Moncef Feki
Chapter 20 - Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS/SACS)—No Longer a Local Disease, Pages 189-193, Andrea Richter
Chapter 21 - Ataxia-Telangiectasia, Pages 195-203, Kai Treuner, Carrolee Barlow
Chapter 22 - Episodic and Intermittent Ataxias, Pages 205-212, Joanna C. Jen, Robert W. Baloh
Chapter 23 - Multiple System Atrophy, Pages 213-229, Cliff Shults, Sid Gilman
Chapter 24 - Metabolic and Mitochondrial Ataxias, Pages 231-252, Enrico Bertini, Carlo Dionisi-Vici, Massimo Zeviani
Chapter 25 - Diagnostic Evaluation of Ataxic Patients, Pages 253-272, Susan L. Perlman
Chapter 26 - Parkinson's Disease: Genetic Epidemiology and Overview, Pages 273-286, Connie Marras, Caroline Tanner
Chapter 27 - PARK1 and α-Synuclein: A New Era in Parkinson's Research, Pages 287-304, J. William Langston, Lawrence I. Golbe, Seung-Jae Lee
Chapter 28 - Parkin Mutations (Park 2), Pages 305-314, Yoshikuni Mizuno, Nobutaka Hattori, Hiroyo Yoshino, Shiuchi Asakawa, Shinsei Minoshima, Nobuyoshi Shimizu, Toshiaki Suzuki, Tomoki Chiba, Keiji Tanaka
Chapter 29 - PARK3, Ubiquitin Hydrolase-L1 and Other PD Loci, Pages 315-323, Rejko Krüger, Olaf Riess
Chapter 30 - tau Genetics in Frontotemporal Lobe Dementia, Progressive Supranuclear Palsy, and Corticobasal Degeneration, Pages 325-340, Joseph J. Higgins
Chapter 31 - Wilson Disease, Pages 341-352, John H. Menkes
Chapter 32 - Essential Tremor, Pages 353-363, Elan D. Louis, Ruth Ottman
Chapter 33 - Molecular Biology of Huntington's Disease (HD) and HD-Like Disorders, Pages 365-383, David C. Rubinsztein
Chapter 34 - Paroxysmal Dyskinesias, Pages 385-393, Kailash P. Bhatia
Chapter 35 - Primary Dystonias, Pages 395-405, Ulrich Müller
Chapter 36 - DYT1 Dystonia, Pages 407-418, Laurie J. Ozelius, Susan B. Bressman
Chapter 37 - Dopa-Responsive Dystonia, Pages 419-428, Hiroshi Ichinose, Toshiharu Nagatsu, Chiho Sumi-Ichinose, Takahide Nomura
Chapter 38 - Hallervorden-Spatz Syndrome, Pages 429-441, Susan J. Hayflick
Chapter 39 - Genetics of Familial Idiopathic Basal Ganglia Calcification (FIBGC), Pages 443-450, Maria-Jesus Sobrido, Daniel H. Geschwind
Chapter 40 - Myoclonus and Myoclonus-Dystonias, Pages 451-471, Christine Klein
Chapter 41 - Mitochondrial Mutations in Parkinson's Disease and Dystonias, Pages 473-490, David K. Simon
Chapter 42 - Genetics of Gilles de la Tourette Syndrome, Pages 491-501, David L. Pauls, Stefan-M. Pulst, Matthew W. State
Chapter 43 - The Genetics of Restless Legs Syndrome, Pages 503-509, Andy Peiffer
Chapter 44 - Other Adult-Onset Movement Disorders with a Genetic Basis, Pages 511-540, James P. Sutton
Chapter 45 - Ethical Issues in Genetic Testing for Movement Disorders, Pages 541-550, Martha A. Nance, Thomas D. Bird, Stefan-M. Pulst
Index, Pages 551-561