Movement Disorders

Genetics and Models

Edited by

  • Mark LeDoux, Department of Neurology, University of Tennessee Health Science Center, Memphis, TN, USA; Department of Anatomy & Neurobiology, University of Tennessee Health Science Center, Memphis, TN, USA

The use of animal models is a key aspect of scientific research in numerous fields of medicine. Movement Disorders, Second Edition vigorously examines the important contributions and application of animal models to the understanding of human movement disorders, and serves as an essential resource for basic neuroscientists engaged in movement disorders research. Academic clinicians, translational researchers and basic scientists are brought together to connect experimental findings made in different animal models to the clinical features, pathophysiology and treatment of human movement disorders.

A vital feature of this book is an ancillary website with video clips of human movement disorders and their corresponding animal models. The book is divided into sections on Parkinson's disease, Huntington's disease, dystonia, tremor, paroxysmal movement disorders, ataxia, myoclonus, restless legs syndrome, drug-induced movement disorders, multiple system atrophy, progressive supranuclear palsy/corticobasal degeneration, and spasticity. This book serves as an essential resource for both clinicians interested in the science being generated with animal models and basic scientists studying the pathogenesis of particular movement disorders.

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Audience

General neurologists, neurologists with subspecialty interest in movement disorders, neuroscientists, rehabilitation physicians, psychiatrists, and academic veterinarians with an interest in animal models.

 

Book information

  • Published: October 2014
  • Imprint: ACADEMIC PRESS
  • ISBN: 978-0-12-405195-9

Reviews

"The book is a timely review of animal models of movement disorders...The text is an excellent resource for neurologists and researchers specializing in movement disorders. In addition, this book will undoubtedly be a useful reference source for general neurologists, neurology residents, and basic science fellow and students." - Zbigniew K. Wszolek, Department of Neurology, Mayo Clinic Jacksonville in PARKINSONISM AND RELATED DISORDERS (September 2005) "...this new textbook provides a comprehensive treatment of animal models used to study human movement disorders and should serve the neurologist, researcher, and other interested scientists very well." --Dr. A.S. Fix, Central Product Safety, The Proctor and Gamble Co, Miami Valley Innovation Center, Cincinnati, OH, in VETERINARY PATHOLOGY (43:5) 2006



Table of Contents

Section I. Scientific Foundations
1. Taxonomy and Clinical Features of Movement Disorders
    Mark Stacy and Patrick Hickey
2. Modeling Disorders of Movement
    Mark S. LeDoux
3. New Transgenic Technologies
    Thomas L. Saunders
4. Assessment of Movement Disorders in Rodents
    H. A. Jinnah and E. J. Hess
5. Drosophila
    Rami R. Ajjuri, Marleshia Hall, Lawrence T. Reiter and Janis M. O'Donnell
6. Use of C. elegans to Model Human Movement Disorders
    Guy A. Caldwell and Kim A. Caldwell
7. Zebrafish
    Edward A. Burton
8. Techniques for Motor Assessment in Rodents
    Amandeep Mann and Marie- Francoise Chesselet
9. Induced Pluripotent Stem Cells (iPSCs) to Study and Treat Movement Disorders
    Devkanya Dutta and Kwang-Soo Kim
10. Neurophysiological Assessment of Movement Disorders in Humans
      Nicolás M. Phielipp and Robert Chen
11. Neurophysiological and Optogenetic Assessment of Brain Networks Involved in Motor Control
      Ilse S. Pienaar, David Trevor Dexter and Viviana Gradinaru
12. Functional Imaging to Study Movement Disorders
      Wataru Sako, Aziz M. Uluğ and David Eidelberg
13. Human and Non-Human Primate Neurophysiology to Understand the Pathophysiology of Movement Disorders
      Nicole Swann and Philip Starr

Section II.  Parkinson Disease
14. The Phenotypic Spectrum of Parkinson Disease
      Ronald F. Pfeiffer
15. Genetics and Molecular Biology of Parkinson Disease
      Simona Petrucci, Giuseppe Arena and Enza Maria Valente
16. Genotype-Phenotype Correlations in Parkinson Disease
      Andreas Puschmann and Zbigniew K. Wszolek
17. From  Man to Mouse: The MPTP Model of Parkinson Disease
      Vernice Jackson Lewis, Deranda Lester, Elena Kozina, Serge Przedborski and Richard Jay Smeyne
18. Rodent Models of Autosomal Dominant Parkinson Disease
      Jianfeng Xiao, Satya Vemula and Zhenyu Yue
19. Rodent Models of Autosomal Recessive Parkinson Disease
      Suzana Gispert, Georg Auburger, Korah P. Kuruvilla and Mark S. LeDoux
20. Drosophila models of PD
      Brian Ernest Staveley
21. Primates Models of PD-Treatment Related Complications
      Susan Fox, Jonathan Brotchie and Tom M. Johnston
22. Rodent Models of Treatment-Related Complications in Parkinson disease
      Veronica Francardo, Hanna Iderberg, Hanna Lindgren and M. Angela Cenci
23. Methods and models of the non-motor symptoms of Parkinson disease
      Michael P. McDonald

Section III.  Dystonia
24. Dystonia: Phenotypes and Genetics
      Mark S. LeDoux
25. Murine Models of Caytaxin Deficiency
      Mark S. LeDoux
26. Animal Models of Focal Dystonia
      L. Craig Evinger
27. Mouse Models of Dystonia
      E. J. Hess and H. A. Jinnah
28. Rodent Models of Autosomal Dominant Primary Dystonia
      Janneth Oleas, Fumiaki Yokoi, Mark P. DeAndrade and Yuqing Li
29. Modeling Dystonia-Parkinsonism
      Kamran Khodakhah and Diany Paola Calderon

Section IV.  Huntington Disease
30. Genetics of Huntington Disease (HD),  HD-Like Disorders, and Other Choreiform Disorders
      Ruth Walker
31. Murine Models of HD
      Gelareh Mazarei and Blair R. Leavitt
32. Use of Genetically Engineered Mice to Study the Biology of Huntington
      Paula Dietrich and Ioannis Dragatsis
33. Modelling Huntington's disease in yeast and invertebrates
      Robert P. Mason, Carlo Breda, Gurdeep S. Kooner, Giovanna R. Mallucci, Charalambos P. Kyriacou and Flaviano Giorgini
34. HDL2 Mouse
      Dobrila D. Rudnicki, X. William Yang and Russell L. Margolis
35. Analysis of Non-Motor Features in Murine Models of HD
      Barbara Baldo and Asa Petersen

Section V.  Tremor
36. Essential Tremor
      Jay A. Van Gerpen and Owen A. Ross
37.  Use of the Harmaline and α1 Knockout Models to Identify  Molecular Targets for Essential Tremor
      Adrian Handforth
38. Physiological and Behavioral Assessment of Tremor in Rodents
      John Salamone, Samantha Podurgiel, Lyndsey E. Collins-Praino and Mercè Correa
39. Mouse Models of the Fragile X tremor/ataxia Syndrome (FXTAS)  and the Fragile X Premutation
      Robert F. Berman, Michael Ryan Hunsaker and Jared Schwartzer

Section VI.  Myoclonus
40. Myoclonus: Classification, Clinical Features and Genetics
      Steven Frucht and Amar Patel
41. Mouse Model of Unverricht-Lundborg Disease
      Outi Kopra, Tarja Joensuu and Anna-Elina Lehesjoki
42. Rat Model of Posthypoxic Myoclonus
      Kwok-Keung Tai and Daniel Truong
43. Generating Mouse Models of Mitochondrial Disease
      Emil Ylikallio and Henna Tyynismaa

Section VII.  Tics
44. Tics and Tourette Syndrome: Phenomenology
      Neepa Patel and Joseph Jankovic
45. Genetics of Tourette Syndrome
      Peristera Paschou, Pieter J. Hoekstra and Gary A. Heiman
46. Neural Circuit Abnormalities in Tourette Syndrome
      Irene Neuner
47. Animal models of Tourette syndrome and obsessive-compulsive disorder
      Christopher Pittenger

Section VIII.  Paroxysmal Movement Disorders
48. Paroxysmal Movement Disorders: Clinical and Genetic Features
      Emmanuel Roze, Aurélie Méneret and Marie Vidailhet
49. Mouse Models of PNKD
      Korah P. Kuruvilla and Mark S. LeDoux
50. GLUT1 Deficiency (G1D)
      Juan M. Pascual
51. Animal Models of Episodic Ataxia Type 1 (EA1)
      Mauro Pessia, Maria Cristina D'Adamo and Giuseppe Di Giovanni
52. Mouse Models of Episodic Ataxia Type 2
      Samuel J. Rose and E. J. Hess

Section IX.  Tauopathies
53. Tauopathies: Classification, Clinical Features and Genetics
      Keith A. Josephs
54. Drosophila Models of Tauopathy
      Yousuf Ali, Kai Ruan and R. Grace Zhai
55. Tauopathy mouse models
      Yan Ren, Naruhiko Sahara, Benoit Giasson and Jada Lewis
56. Tau protein: Biology and Pathobiology
      Nicholas M. Kanaan, Diana S. Himmelstein, Sarah M. Ward, Benjamin Combs and Lester Irvin Binder

Section X.  Other Parkinsonian Syndromes: NBIA, MSA, PD+spasticity, PD+dystonia
57. Clinical Phenomenology and Genetics of other Parkinsonian Syndromes Associated with either Dystonia or Spasticity
      Susanne Schneider
58. Animal models of multiple system atrophy
      Florian Krismer, Daniel Kuzdas, Carlo Colosimo, Nadia Stefanova and Gregor K. Wenning
59. Modeling PKAN in Mice and Flies
      Ody Sibon, Susan Hayflick and Valeria Tiranti
60. Mouse models of FA2H deficiency
      Kathleen A. Willet and Hiroko Hama
61. Mouse models of Neuroaxonal Dystrophy caused by PLA2G6 Gene Mutations
      Devika P. Bagchi and Paul Kotzbauer

Section XI.  Ataxias
62. Genetics and Clinical Features of Inherited Ataxias
      S.H. Subramony and T. Ashizawa
63. Animal Models of Spinocerebellar  Ataxia Type 1 (SCA1)
      Puneet Opal and Harry T. Orr
64. Mouse Models of SCA3 and Other Polyglutamine Repeat Ataxias
      Maciej Figiel, Wlodzimierz J. Krzyzosiak, Pawel M. Switonski and Wojciech J. Szlachcic
65. Animal Models of Friedreich Ataxia
      Massimo Pandolfo
66. Ataxia-Telangiectasia and the Biology of ATM
      Karl Herrup, Jianmin Chen, Jiali Li and Mark Plummer
67. Autosomal Recessive Ataxias due to Defects in DNA Repair
      Sherif F. El-Khamisy and Owen Spencer Wells
68. C. elegans models to study the molecular biology of ataxias
      Pilar Gonzalez-Cabo and Rafael P. Vazquez-Manrique

Section XII.  Hereditary Spastic Paraplegia
69. Hereditary Spastic Paraplegias:  Genetics and Clinical Features
      Benoît Renvoisé and Craig Blackstone
70. Mouse models of autosomal dominant spastic paraplegia
      Coralie Fassier, Jamilé Hazan and Judith Melki
71. Murine Models of Autosomal Recessive Hereditary Spastic Paraplegia
      Craig Blackstone
72. Modeling HSP in Zebrafish
      João M. Peres and Corinne Houart
73. Drosophila Models of Hereditary Spastic Paraplegia
      Emily F. Ozdowski, Sally L. Baxter and Nina Tang Sherwood
74. Caenorhabditis elegans Models of Hereditary Spastic Paraplegia
      Peter Hedera
75. Use of Arabidopsis to model hereditary spastic paraplegia and other movement disorders
      John Gardiner

Section XIII.  Restless Legs Syndrome
76. Clinical Phenotype and Genetics of Restless Legs Syndrome
      Eva C. Schulte and Juliane Winkelmann
77. Combined D3 Receptor/ Iron Deficient Mouse Model
      David Liebetanz and Florian Klinker
78. Use of Drosophila to Study Restless Legs Syndrome
      Subhabrata Sanyal
79. The A11 Lesion/Iron Deprivation Animal Model of Restless Legs Syndrome
      William Ondo
80. Btbd9 Knockout Mice as a Model of Restless Legs Syndrome
      Mark P. DeAndrade and Yuqing Li