Neurobiology of Disease

Professor Michael Johnston at Johns Hopkins and the Kennedy Krieger Institute, and Professor Harold Adams at the University of Iowa, are respected international authorities in pediatric neurology and adult neurology, respectively, with substantial records of teaching and scholarship. Dr. Ali Fatemi who trained in pediatric neurology and neurogenetics at Massachusetts General and is head of the Moser Center for Leukodystrophies brings expertise in clinical and research neurogenetics to the editorial team.

"Johnston, Adams, and Fatemi have assembled a superb group of section editors and contributors, who cover neurological disease broadly and deeply. Chapters provide clinical overviews, insights into the neurobiology of the conditions, and treatment considerations. The material is well-organized and abundantly illustrated, with instructive tables. This book will appeal to non-specialist neurologists and non-neurologist readers, but will be equally or moreattractive to neurology specialists who want to review areas outside their areas of focus. Despite the current tendency to search for material at the 'bedside,' there should still be room on the shelf forthis text." --Robert A. Gross MD, PhD, FANA, FAAN, Professor of Neurology and of Pharmacology and Physiology, University of Rochester Medical Center, Editor-in-Chief, Neurology Journal.

• SECTION I: Movement Disorders (Joel Perlmutter, Washington University) 1. History of ParkinsonismMichael Silver, MD and Stewart A. Factor, DO2. Parkinson Disease: Pathophysiology, Clinical Manifestations and Course including Diagnosis and Differential Diagnosis Michael J. Soileau, MD and Kelvin L. Chou, MD3. Parkinson Disease: Treatment, Current Clinical Trials Thien Thien Lim, MD and Hubert H. Fernandez, MD4. Parkinson Syndromes: Multiple System Atrophy Melvin W. Kong, MD and Ejaz A. Shamim MD, MS5. Parkinson Syndromes: Progressive Supranuclear Palsy Vikas Kotagal, MD, MS and Praveen Dayalu, MD6. Parkinson Syndromes: Corticobasal Degeneration Sami Barmada, MD, PhD7. Huntington Disease: Etiology, Genetics, and Clinical Manifestations Roger L. Albin, MD and Henry L. Paulson, MD, PhD8. Huntington Disease: Treatment, Current Clinical Trials Charles S. Venuto, PharmD and Karl Kieburtz, MD, MPH9. Essential Tremors Arif Dalvi, MD, MBA, Kelly E. Lyons, PhD, and Rajesh Pahwa, MD10. Dystonia: History and Classification H. A. Jinnah, MD, Cecilia N. Prudente, MD, Samuel J. Rose, MD and Ellen J. Hess, MD11. Dystonia: Pathophysiology, Clinical Manifestations and Course Including Diagnosis, and Differential Diagnosis, Treatment, Current Clinical TrialsJeri Yvonne Williams, MD and David G. Standaert, MD, PhD12. Paroxysmal Dyskinesias Olga Waln, MD and Joseph Jankovic, MD.13. The Expanded Polyglutamine Tract Spinocerebellar AtaxiasElsdon Storey, MD14. Ataxias: Autosomal Recessive and other AtaxiasVikram G. Shakkottai, MD, PhDSECTION II: Dementias (David Knopman, Mayo Clinic) 15. Alzheimer's Disease: Pathology and Pathogenesis Bradley T Hyman, MD, Beatriz G Perez-Nievas, MD, Isabel Barroeta-Espar, MD, Alberto Serrano-Pozo, MD, Matthew Frosch, MD, and Teresa Gomez-Isla, MD16. Alzheimer's Disease: Clinical Manifestations and Diagnostic/Differential DiagnosisMichael S. Rafii, MD, PhD17. Alzheimer's Disease: Management and TreatmentGregory A. Jicha, MD, PhD and Frederick A. Schmitt, PhD18. Frontotemporal Degenerations Jonathan Graff-Radford, MD, and Keith A. Josephs, MD, MST, MSc19. Diagnosis and Therapy for Lewy Body DementiaBela R. Turk, MD and Ali Fatemi, MD20. Pathogenesis of Lewy Body DementiaJagan A. Pillai, MD, PhD and James B. Leverenz, MD21. Cerebrovascular DementiaRahul Karamchandani, MD and Nancy R. Barbas, MD, MSWSECTION III: Motorneuron Diseases (Merit Cudkowicz, Massachusetts General Hospital, Harvard University) 22. Types of MNDS Nimish Thakore, MD and Erik P. Pioro, MD, PhD23. Clinical Presentations, Diagnostic Criteria, Lab Testing Nimish Thakore, MD and Erik P. Pioro, MD, PhD24. Symptomatic Care Matthew Gladman, MD and Lorne Zinman, MD, MSc25. ALS: Epidemiology Éilis J. O'Reilly, ScD26. ALS: Pathogenesis Laura Ferraiuolo, MD and Stephen J. Kolb, MD27. ALS: Insights from Genetics Matthew B. Harms, MD and Timothy M. Miller, MD, PhD28. ALS: In Vitro and In Vivo Disease Models Brian J. Wainger, MD, PhD29. ALS Pathology Brent T. Harris, MD, PhD, Galam A. Khan, MD, and Saed Sadeghi, MD 30. ALS: Clinical Trials Past Reflections Informing New DirectionsKatharine A. Nicholson, MD and James D. Berry, MD 31. Upper Motor Neuron Disorders: Hereditary Spastic Paraplegia and Primary Lateral SclerosisJohn K. Fink, MD 32. UMN Disorders (HSP and PLS): Pathogenesis, Insights from Genetics, In Vitro and In Vivo Disease Models, Pathology and Clinical Trials Sabrina Paganoni, MD, PhD and Nazem Atassi, MD, MMSc33. SMA: Pathogenesis Umrao R. Monani, PhD and Darryl C. De Vivo, MD34. SMA: Insights from GeneticsArthur H.M. Burghes, MD and Vicki L. McGovern, MD 35. SMA: In Vitro and In Vivo Models of Spinal Muscular AtrophyW. David Arnold, MD and Arthur H.M. Burghes, MDSECTION IV: Paroxysmal Disorders (Solomon Moshe, Albert Einstein College of Medicine) 36. Biological Basis of Primary Generalized Epilepsies-GeneticsCarla Marini, MD and Renzo Guerrini, MD37. Biological Basis of Primary Generalized Epilepsies - PathophysiologyMark W. Youngblood, MD and Hal Blumenfeld, MD38. Temporal Lobe EpilepsyEdward H. Bertram, MD39. Focal Cortical DysplasiasAli Mahta, MD and Peter B. Crino, MD, PhD40. Biological Bases of Symptomatic Generalized Epilepsies in ChildrenDragos A. Nita, MD, Miguel A. Cortez, MD, Jose Luis Perez Velazquez, MD, and O. Carter Snead 3rd, MD41. Epilepsies that Occur Predominantly in Girls Lynette G Sadleir, MD, Jozef Gecz, MD, and Ingrid E Scheffer, MD42. Epidemiology of Epilepsy: Incidence, Prevalence, and Risk FactorsDale C Hesdorffer, PhD, MPH43. Clinical Presentation, Diagnosis, and Course- Epilepsy Syndromes with Focal SeizuresAlex Boro, MD and Jerome Engel, Jr., MD44. Medical Management of EpilepsyJules C. Beal, MD and Emilio Perucca, MD45. Neuroimaging in Epilepsy William A. Gomes, MD, PhD47. Alternative Therapies for Epilepsy: Dietary TreatmentsCarl E. Stafstrom, MD, PhD48. Migraine and Other Headache Disorders Robert W. Charlson, MD and Matthew S. Robbins, MD49. Neurobiology of MigraineVictor Rosenfeld, MD and John Stern, MDSECTION V: Pediatric Neurology and Developmental Disorders (Tanjala Gipson and Deepa Menon, Kennedy Krieger Institute and Johns Hopkins University) 50. Autism and Intellectual Disabilities: Overview of Autism and Intellectual DisabilitiesTanjala T. Gipson, MD and Michael V. Johnston, MD51. Tuberous Sclerosis Complex: Pediatric AspectsTanjala T. Gipson, MD, Andrea Poretti, MD, Rebecca McClellan, MGC, CGC, and Michael V. Johnston, MD52. Neurofibromatosis Type 1David S. Wolf, MD, PhD53. Neurobiology of Autism and Intellectual Disability: Fragile X SyndromeDejan B. Budimirovic, MD and Megha Subramanian, BA54. Autism and Intellectual Disabilities: PTEN Gene mutation Deepa U. Menon, MBBS, MD55. Rett SyndromeC.L. Smith-Hicks, MD and SakkuBai Naidu, MD56. Angelman Syndrome Kristin W. Barañano, MD, PhD57. Down SyndromeGeorge T. Capone, MD58. Coffin-Lowry SyndromeMichael V. Johnston, MD59. Congenital HypothyroidismMary Lee Gregory, MD, PhD60. Pediatric Neurotransmitter DisordersPhillip L. Pearl, MD and William P. Welch, MD61. Attention Deficit-Hyperactivity DisorderMihee J. Bay, MD and Bruce K. Shapiro, MD62. Diseases of Mitochondrial Energy MetabolismJacqueline Weissman, MD, MS and Lisa Emrick, MD63. Genetic Metabolic Disorders: MethylmalonicAciduria Siddharth Srivastava, MD and Jeffrey Chinsky, MD PhD64. The Urea Cycle DisordersAndrea L. Gropman, MD, Belen Pappa, MD, and Nicholas Ah Mew, MD65. Phenylketonuria Hilary Vernon, MD, PhD66. Cerebral Creatine Deficiency DisordersPeter W. Schutz, MD and Sylvia Stockler, MD67. Congenial Disorders of GlycosylationMarc C. Patterson, MD, FRACP68. Glutaric Aciduria Type IHilary Vernon, MD, PhD69. Lysosomal Storage Disroders Gustavo H.B. Maegawa, MD, PhD, FACMG70. Peroxisomal DisordersGerald V. Raymond, MD, Mohamed Y. Jefri, MD, Kristin W. Baranano, MD, and Ali Fatemi, MD 71. Leukodystrophies Ulrike Schrifl, MD, SakkuBai Naidu, MD, and Ali Fatemi, MD72. Cerebral PalsyJoan M. Jasien, MD, Bruce K. Shapiro, MD and Alexander H. Hoon, Jr., MD73. Neonatal Brain InjuriesKatharina Goeral, MD, Ali Fatemi, MD, and Michael V. Johnston, MD74. The Neurobiology of Encephalopathy of PrematurityGwendolyn J. Gerner, MD and Vera Joanna Burton, MD75. Epilepsy Syndromes in ChildhoodVerena Staedtke, MD and Eric H. Kossoff, MD76. Migraine and Headaches in Children Jessica Klein, MD and Christopher Oakley, MD77. Congenital Hydrocephalus Vera Joanna Burton, MD and Edward Ahn, MD78. Spina Bifida and Related ConditionsStephen L. Kinsman, MD79. Smith-Lemli-Opitz SyndromeRyan W. Lee, MD80. Sickle Cell AnemiaEboni I. Lance, MDSECTION VI: Neuroimmunological Diseases (Carlos Pardo-Villamizar, Johns Hopkins University) 81. The Epidemiology of Multiple Sclerosis: An Historical PerspectiveKassandra L. Munger, ScD82. Multiple Sclerosis: PathologyBogdan Florin Gh. Popescu, MD, Yong Guo, MD, and Claudia Francesca Lucchinetti, MD83. Multiple Sclerosis: MRI and Other Imaging Approaches in MS Martina Absinta, MD and Daniel S. Reich, MD, PhD84. Multiple Sclerosis: White Matter vs Grey Matter Involvment (The Cause of Disability in MS)Massimo Filippi, MD, and Maria A. Rocca, MD.85. Multiple Sclerosis: Monitoring disease activity and progressionPavan Bhargava, MD and Shiv Saidha, MBBCh, MD, MRCPI86. Symptomatic Treatment of Multiple SclerosisKathleen Costello, RN, BSN, MS87. Exercise and Multiple SclerosisJeffrey R Hebert, PT, PhD88. Multiple Sclerosis: Disease Modifying TherapiesPavan Bhargava, MD and Peter A. Calabresi, MD89. Neuromyelitis OpticaTeri L. Schreiner, MD, MPH and Jeffrey L. Bennett, MD, PhD 90. Acute Disseminated Encephalomyelitis Benjamin M. Greenberg, MD, MHS and Allen Desena, MD93. Paraneoplastic Neurological DisordersJohn C. Probasco, MD94. Anti-N-Methyl-D-Aspartate Receptor (NMDAR) EncephalitisElizabeth M. Wells, MD, MHS95. Other Proven and Putative Autoimmune Disorders of the CNS: Anti-GAD Associated Neurological Disorders; Stiff-Person syndrome, Cerebellar Ataxia, Progressive Encephalopathy with Rigidity and Myoclonus (PERM), and Encephalitis. Scott D. Newsome, DO96. Other Proven and Putative Autoimmune Disorders of the CNS: Hashimoto's EncephalopathyEoin P. Flanagan, MBBCh and Richard J. Caselli, MD97. Other Proven and Putative Autoimmune Disorders of the CNS: Neuro-Bechet's Syndrome Afshin Borhani Haghighi M.D and Bernadette Kalman, MD, PhD, DSc98. Post-Streptococcal Movement DisordersDavide Martino, MD and Gavin Giovannoni, MD99. Rasmussen EncephalitisJan Bauer, MD and Christian G. Bien, MD100. Autoimmune EncephalitisAndrew McKeon, MD101. Other Proven and Putative Autoimmune Disorders of the PNS: Myasthenia gravisDoris G. Leung, MD102. Vasculitis of the central nervous systemChristian Pagnoux, MD and Richard H. Swartz, MDSECTION VII: Cerebrovascular Diseases (Harold Adams, University of Iowa) 103. Stroke Epidemiology and Impact: Mortality, Incidence, Prevalence, Stroke Subtypes, Sex, Race/Ethnicity, Geography U.S. and WorldVirginia J Howard, PhD104. Acute Ischemic StrokeHarold P. Adams, Jr., MD105. Neuroimaging of Acute StrokeChelsea S. Kidwell, MD and Kambiz Nael, MD106. Common Risk Factors and Medical Prevention TherapiesGeorge Khouri, MD, Shelly Ozark, MD, and Bruce Ovbiagele, MD, MSc, MAS107. Surgical and Radiologic Intervention for Prevention of Ischemic StrokeAndrew Ringer, MD108. Unusual Causes of StrokeEnrique C. Leira, MD, MS109. Pediatric StrokeMelissa Chung, MD and Warren Lo, MD 110. Vascular Biology of Cerebral IschemiaJason A. Ellis, MD and E. Sander Connolly, Jr., MD111. Intracerebral HemorrhageCraig Anderson, MD112. Subarachnoid Hemorrhage David Hasan, MD113. Genetics of Cerebral Ischemia including Genetic SyndromesAndrea Porretti, MD and Michael V. Johnston, MD114. Molecular Targets of Cerebral Ischemia Ryan J. Felling, MD, PhD115. Sturge-Weber Syndrome and related Cerebrovascular Malformation Syndromes.Angela Quain, MS and Anne M. Comi, MDSECTION VIII: Peripheral and Autonomic Nervous System Disorders and Pain (Nicholas Maragakis, Johns Hopkins University) 116. Neuropathies Associated with Infection or Toxic ExposureDoris Leung, MD117. Mechanisms Contributing to the Development and Progression of Diabetic PolyneuropathyLucy M. Hinder, PhD, Kelli A. Sullivan, PhD, Stacey A. Sakowski, PhD, and Eva L. Feldman, MD, PhD118. Diabetic and PreDiabetic NeuropathyLindsay Zilliox, MD and James W. Russell, MD, MS, FRCP119. Anatomy, Localization, and Pattern Recognition of Peripheral NeuropathyNoah Kolb, MD and A. Gordon Smith, MD120. Drug Discovery of Neuropathic PainBrian J. Wainger, MD, PhD121. Neuropathies, AutonomicPhillip A. Low, MD122. Animal Models of Peripheral Neuropathy and Neuropathic PainKatelyn Donaldson, MD and Ahmet Höke, MD, PhD 123. Diagnostic Tests and Clinical Scales for Peripheral Neuropathy John D. Markman, MD124. Complex Regional Pain Syndrome Frank S. Pidcock, MD125. Entrapment Neuropathies James W. Teener, MD126. Demyelinating Neuropathies John A. Goodfellow, MD, Amy I. Davidson, MD, and Hugh J. Willison, MD127. Immune Mediated Neuropathies John A. Goodfellow, MD, Amy I. Davidson, MD, and Hugh J. Willison, MD128. Radiculopathy and PlexopathyMichael Wheaton, MD, Dustin Nowacek, MD, and Zachary London, MDSECTION IX: Neoplastic and Paraneoplastic Diseases (Lisa DeAngelis, Memorial Slaon-Kettering Cancer Center) 129. Infiltrative Astrocytomas: WHO grade II - Diffuse Astrocytoma; WHO grade III - Anaplastic AstrocytomaAaron Mammoser, MD, MS130. Glioblastomas Aaron Mammoser, MD, MS131. Oligodendrogliomas Thomas J. Kaley, MD132. Primary CNS Tumores: Ependymomas Brett J. Theeler, MD and Mark R. Gilbert, MD133. Meningiomas Jennie Taylor, MD and Patrick Y. Wen, MD134. Pineal Region NeoplasmsNeil Haranhalli, MD and Jerome J. Graber, MD, MPH135. Pituitary Tumors Toral R. Patel, MD and Viviane S. Tabar, MD136. Primary Central Nervous System LymphomaLisa M. DeAngelis, MD137. Familial CNS Tumor Syndromes: Neurofibromatosis Type 1Ibrahim Hussain, BA and David H. Gutmann, MD, PhD138. Familial CNS Tumor Syndromes: Neurofibromatosis Type-2 Jennie W. Taylor, MD and Scott R. Plotkin, MD, PhD139. Familial CNS Tumor Syndromes: Tuberous Sclerosis Darcy A. Krueger, MD, PhD140. Familial CNS Tumor Syndromes: Von Hippel-Lindau Disease Gurvinder Kaur, MD, Leonel Ampie, MD, Joseph Weiner, MD, and Aruna Ganju, MD141. Pediatric Tumors: Pontine Glioma Kristin Schroeder, MD, MPH and Oren Becher, MD142. Pediatric Tumors: Medulloblastoma Kevin C De Braganca, MD and Roger J. Packer, MD143. Pediatric Tumors: Cerebellar AstrocytomaVijay Ramaswamy, MD, FRCPC, Jason T. Huse, MD, PhD, and Yasmin Khakoo, MD144. Brain MetastasesJasmin Jo, MD and David Schiff, MD145. Overview: Other Proven and Putative Autoimmune Disorders of the CNSMyrna R. Rosenfeld, MD, PhD, Maarten J. Titulaer, MD, PhD, and Josep Dalmau, MD, PhD146. Chemotherapy and Radiation TherapyMary R. Welch, MD and Craig Nolan, MDSECTION X: Infectious Diseases of the Nervous System (Karen Roos, Indiana University) 147. Acute Bacterial MeningitisPratibha Singhi, MD, PhD, Naveen Sankhyan, MD, PhD, and Sunit Singhi, MD, PhD148. Cerebrospinal Fluid John E. Greenlee, MD149. History of Human Immunodeficiency Virus Infection and the Nervous SystemAvindra Nath, MD150. HIV-Associated Neurocognitive DisordersJoshua Alexander, DO, MPH, David J Croteau, MD, FRCPC, and Ronald J Ellis, MD, PhD 151. HIV Infection: Opportunistic Infections in HIV-Infected IndividualsWilliam Tyor, MD152. Varicella Zoster Virus Infection of the Nervous SystemDon Gilden, MD, Randall J. Cohrs, PhD, Ravi Mahalingam, PhD, and Maria A. Nagel, MD153. Brain Abcess Bela R. Turk, MD, Ali Fatemi, MD, and Michael V. Johnston, MD154. Epidural Abscess and Sudural Empyema Tyler R West, DO and Kelly J Baldwin, MD155. Spinal Epidural Abcess Minal A. Shah, MD and Rabih O. Darouiche, MD156. Transverse Myelitis Ivana Vodopivec, MD, PhD and Tracey A. Cho, MD157. CNS Tuberculosis Andrea T. Cruz, MD, MPH, and Jeffrey R. Starke, MD158. Rabies Alan C. Jackson, MD 159. Disorders Caused by Botulinum Toxin and Tetanus ToxinCarl E. Stafstrom, MD, PhD160. Rickettsial Diseases Lisa Sun, MD and Michael V. Johnston, MD161. Ehrlichial DiseasesNicholas S. Havens, MD and William E. Roland, MD, FACP162. Nervous System Lyme DiseaseJohn J. Halperin, MD163. Congenital and Perinatal Viral InfectionsJames F. Bale, Jr., MD164. Neurologic Manifestations of HTLV-1 Abelardo Q-C Araujo, MD, MSc, PhD, FAAN165. Fungal Infections of the Central Nervous SystemPratibha Singhi,MD, Karthi Nallasamy, MD, and Sunit Singhi, MD166. MalariaKiran Thakur, MD167. BabesiosisKristyn E. Feldman, MD and Joshua Biddle, MD168. Amebic Encephalitis Pratibha Singhi, MD and Arushi G. Saini, MD169. Prions James A. Mastrianni, MD, PhD and Joshuae G. Gallardo, MD170. Neurological Complications of Infective EndocarditisJonah Grossman, MD, Tanzila Shams, MD, and Cathy Sila, MD171. Post-Infectious Encephalitis Agusto A. Miravalle, MD172. Central Nervous System Whipple DiseaseArun Venkatesan, MD, PhD173. Progressive Multifocal LeukoencephalopathyArun Swaminathan, MBBS and Joseph R. Berger, MDSECTION XI: Sleep Disturbances (Mark Dyken, University of Iowa) 174. REM Sleep Behavior Disorder Shannon S. Sullivan, MD175. Restless Leg Syndrome and Periodic Limb Movements in Sleep Jennifer Accardo, MD, MSCE176. Insomnia Wilfred R. Pigeon, MD and Henry J. Orff, MD177. Sleep Apnea Jennifer Accardo, MD, MSCE178. Neurobiology of Circadian Rhythm DisordersChristopher R. Jones, MD, PhDSECTION XII: Substance Abuse and Toxicological Disorders (Barry Kosofsky, Weil-Cornell University Medical Centers) 179. Neurologic Manifestations of Organic ChemicalsJohn L. O'Donoghue, VMD, PhD, DABT 180. Neurobiology of Drug Addiction and Clinical Aspects of Drug AbuseLeslie R. Whitaker, MD and Bruce T. Hope, MD181. Neurological Effects of Marine ToxinsKazuma Nakagawa, MD182. Fetal Alcohol Syndrome Carmen Lopez-Arvizu, MD, Carmel Bogle, MD, and Harolyn M.E. Belcher, MD, MHS183. Fetal Exposure to Tobacco and Cannabis Edore C. Onigu-Otite, MD184. Neurobiology of Child Maltreatment and Psychological TraumaNikeea Copeland-Linder, PhD, MPH, Edore Onigu-Otite, MD, Jennifer Serico, PhD, Mariflor Jamora, MD, and Harolyn M.E. Belcher, MD, MHS185. Neurobiology of Intrauterine Opiate and Cocaine ExposureHarolyn M.E. Belcher, MD, MHS and Samantha Hutchison, MDSECTION XIII: Neurologic Manifestations of Medical Disorders (John Probasco, Johns Hopkins University) 186. Electrolyte DisturbancesMark N. Rubin, MD and Alejandro A. Rabinstein, MD 187. Nutritional DeficienciesDeanna Saylor, MD, MHS and John C. Probasco, MD188. Alcohol Abuse Killian A. Welch, MD189. Thyroid DiseaseMakoto Ishii, MD, PhD190. Parathyroid, Adrenal, Ovarian, Testicular and Pituitary DiseaseGary M. Abrams, MD191. Cardiac Disease Roger E. Kelley, MD192. Neurobiology of Brain Injury after Cardiac ArrestLucia Rivera-Lara, MD and Romergryko G. Geocadin, MD193. Gastrointestinal DiseaseBrian P. Bosworth, MD, Brian R. Landzberg, MD, and Elisa McEachern, MD194. Neurological Manifestations of Renal DiseaseJoshua S. Hundert, MD, Rashmi Verma, MD, Ritika Suri, MD, Anika T. Singh, MD, and Ajay Singh, MD195. Systemic Lupus Erythematosis Richard B. Rosenbaum, MD196. Neurologic Manifestations of Hematological DiseaseElham Bayat, MD