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A definitive, clinically oriented guide to the pathology of genetics of developmental neuropathology
Developmental neuropathology relates to the wide range of disorders affecting the developing brain or pre- and post-natal life, with emphasis on the genetic and molecular mechanisms involved. This book provides a practical guide to diagnosing and understanding these disorders affecting this vulnerable population and potentially stimulates further advances in this exciting area. It also addresses the controversies in inflicted head injury in infants.
The fourth major title to be approved by the International Society of Neuropathology (ISN), Developmental Neuropathology offers in-depth chapter coverage of brain development; chromosomal changes; malformations; secondary malformations and destructive pathologies; developmental vascular disorders; acquired metabolic and exogenous toxins; metabolic disorders; Rett syndrome and autism; and infectious diseases. The text provides:
Developmental Neuropathology is the perfect book for practicing neuropathologists, pediatric pathologists, general pathologists, neurologists, and geneticists in deciphering the pathology and pathogenesis of these complex disorders affecting the nervous system of the embryo, fetus, and child.
Homa Adle-Biassette Inserm U676, Université Paris Diderot (P7), Hôpital Robert Debré, Paris, France.
Brian Harding Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Jeffrey Golden Ramzi S. Cotran Professor of Pathology, Harvard Medical School, and Chair of Pathology Brigham and Women's Hospital, Boston, MA, USA.
List of Contributors, vii
Introduction, xiii
1 Central Nervous System Manifestations of Chromosomal Change, 1Joseph R. Siebert
2 Neural Tube Defects, 13Andrew J. Copp and Brian N. Harding
3 Midline Patterning Defects, 29Edwin S. Monuki and Jeffrey A. Golden
4 Microcephaly, 41Sandrine Passemard, Annie Laquerriere, ` Nathalie Journiac, and Pierre Gressens
5 Hemimegalencephaly and Dysplastic Megalencephaly, 55Ghayda Mirzaa, Achira Roy, William B. Dobyns, Kathleen Millen, and Robert F. Hevner
6 Lissencephaly, Type I, 63Jeffrey A. Golden
7 Lissencephaly, Type II (Cobblestone Lissencephaly), 75Jeffrey A. Golden
8 Polymicrogyria, 85Jeffrey A. Golden
9 Cerebral Heterotopia, 91Edwin S. Monuki and Keith L. Ligon
10 Hippocampal Sclerosis, Granule Cell Dispersion, and Cortical Dysplasia, 101Maria Thom
11 Tuberous Sclerosis Complex, 117Shino D. Magaki and Harry V. Vinters
12 Chiari Malformations, 133Homa Adle-Biassette and Jeffrey A. Golden
13 Dandy-Walker Malformation, Mega Cisterna Magna, and Blake's Pouch Cyst, 141Robert F. Hevner, Kathleen Millen, and William B. Dobyns
14 Joubert Syndrome, 151Robert F. Hevner, William B. Dobyns, and Enza Maria Valente
15 Cerebellar Heterotopia and Dysplasia, 159Marie Rivera-Zengotita and Anthony T. Yachnis
16 Brainstem Malformations, 167Brian N. Harding
17 Spinal Cord Lesions, 179Annie Laquerriere and Florent Marguet
18 Hydrocephalus, 187Homa Adle-Biassette
19 Antenatal Disruptive Lesions, 199Brian N. Harding
20 Hemorrhagic Lesions, 203Marc R. Del Bigio
21 White Matter Lesions in the Perinatal Period, 213Robin L. Haynes and Rebecca D. Folkerth
22 Gray Matter Lesions, 229Marc R. Del Bigio
23 Pediatric Head Injury, 241Colin Smith, Thomas S. Jacques, and R. Ross Reichard
24 Pediatric Vascular Malformations, 251Shino D. Magaki, Randy Tashjian, and Harry V. Vinters
25 Sudden Infant Death Syndrome, 269Hannah C. Kinney, Marco M. Hefti, Richard D. Goldstein, and Robin L. Haynes
26 Kernicterus, 281Mariarita Santi and Lucy B. Rorke
27 Lesions Induced by Toxins, 285Mariarita Santi, Lucy B. Rorke, and Catherine Keohane
28 Disorders of Carbohydrate Metabolism, 293Josefine Radke, Carsten G. Bonnemann, Werner Stenzel, and Hans-H. Goebel
29 Sphingolipidoses and Related Disorders, 313Annie Laquerriere, Soumeya Bekri, Kinoko Suzuki, and Brian N. Harding
30 The Neuronal Ceroid Lipofuscinoses, 369Josefine Radke, Krystina E. Wisniewski, Werner Stenzel, and Hans-H. Goebel
31 Peroxisomal Disorders, 381Phyllis L. Faust
32 Mitochondrial Disorders, 393Anders Oldfors and Brian N. Harding
33 Disorders of Amino Acid Metabolism and Canavan Disease, 403Dimitri P. Agamanolis
34 Pelizaeus-Merzbacher Disease, 417Brian N. Harding
35 Cockayne Syndrome, 427Karen M. Weidenheim and P. J. Brooks
36 Vanishing White Matter Disease, 437Marianna Bugiani, James M. Powers, and Marjo S. van der Knaap
37 Alexander Disease, 447James E. Goldman and Mel B. Feany
38 Neuroaxonal Dystrophy/Neurodegeneration with Brain Iron Accumulation, 455Abi Li, Sarah Wiethoff, Charles Arber, Henry Houlden, Tamas Revesz, and Janice L. Holton
39 Spinal Muscular Atrophy, 469Brian N. Harding
40 Autism Spectrum Disorders, 477Matthew P. Anderson
41 Intrauterine Infections, 497Catherine Keohane and Homa Adle-Biassette
42 Perinatal and Postnatal Infections, 511Catherine Keohane
43 Rasmussen Encephalitis, 531Harry V. Vinters, Shino D. Magaki, and Geoffrey C. Owens
Index, 537
Lucy B. Rorke Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia University of Pennsylvania Perelman School of Medicine Philadelphia, PA USA
Homa Adle-Biassette Department of Pathology, APHP, Lariboisière Hospital, Université Paris Diderot Paris France
Dimitri P. Agamanolis Department of Pathology Akron Childrens Hospital Akron, OH USA; Department of Pathology Northeast Ohio Medical Universities (NEOMED) Rootstown, OH USA
Matthew P. Anderson Department of Pathology Division of Neuropathology Harvard Medical School Beth Israel Deaconess Medical Center Boston, MA USA
Charles Arber Department of Molecular Neuroscience UCL Institute of Neurology University College London London UK
Soumeya Bekri Department of Metabolic Biochemistry University Hospital Rouen France
Carsten G. Bönnemann Neuromuscular and Neurogenetic Disorders of Childhood Section National Institute of Neurological Disorders and Stroke/NIH Porter Neuroscience Research Center Bethesda, MD USA
P. J. Brooks Office of Rare Diseases Research and Division of Clinical Innovation National Center for Advancing Translational Sciences National Institutes of Health and Laboratory of Neurogenetics National Institute of Alcohol Abuse and Alcoholism National Institutes of Health Bethesda, MD USA
Marianna Bugiani Departments of Child Neurology and Pathology VU University Medical Center, Amsterdam The Netherlands
Andrew J. Copp Newlife Birth Defects Centre Institute of Child Health University College London London UK
Marc R. Del Bigio Department of Pathology University of Manitoba Winnipeg Canada; Diagnostic Services Manitoba Children's Hospital Research Institute of Manitoba Winnipeg Canada
William B. Dobyns Department of Pediatrics University of Washington Seattle, WA USA; Center for Integrative Brain Research Seattle Children's Research Institute Seattle, WA USA
Phyllis L. Faust Columbia University Department of Pathology and Cell Biology New York, NY USA
Mel B. Feany Department of Pathology Brigham and Women's Hospital Harvard Medical School Boston, MA USA
Rebecca D. Folkerth New York City Office of the Chief Medical Examiner New York University School of Medicine New York, NY USA
Hans-H. Goebel Department of Neuropathology Charité Universitätsmedizin Berlin Berlin Germany
Jeffrey A. Golden Department of Pathology Brigham and Women's Hospital Harvard Medical School Boston, MA USA
James E. Goldman Department of Pathology and Cell Biology Columbia University New York, NY USA
Richard D. Goldstein Department of General Pediatrics Children's Hospital Boston Boston, MA USA; Harvard Medical School Boston, MA USA
Pierre Gressens Paris Diderot University Paris France; Inserm U1141 Robert Debré Hospital Paris France; Center for Developing Brain King's College, St. Thomas' Campus London UK
Brian N. Harding Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia Philadelphia, PA USA
Robin L. Haynes Department of Pathology Boston Children's Hospital Boston, MA USA
Marco M. Hefti Department of Pathology Mount Sinai Medical Center New York, NY USA
Robert F. Hevner Department of Neurological Surgery University of Washington Seattle, WA USA; Center for Integrative Brain Research Seattle Children's Research Institute Seattle, WA USA
Janice L. Holton Queen Square Brain Bank Reta Lila Weston Institute of Neurological Studies UCL Institute of Neurology University College London London UK
Henry Houlden Department of Molecular Neuroscience UCL Institute of Neurology University College London London UK
Thomas S. Jacques UCL Institute of Child Health and Great Ormond Street Hospital Great Ormond Street Hospital for Children NHS Foundation Trust London UK
Nathalie Journiac Inserm U1141 Robert Debré Hospital Paris France
Catherine Keohane Department of Pathology and School of Medicine University College Cork Ireland
Hannah C. Kinney Department of Pathology Boston Children's Hospital Boston, MA USA; Harvard Medical School Boston, MA USA
Annie Laquerrière Department of Pathology Pavillon Jacques Delarue Rouen University Hospital Rouen France; Region-Inserm Team NeoVasc ERI28 Laboratory of Microvascular Endothelium and Neonatal Brain lesions Institute of Research Innovation in Biomedecine Normandy University Rouen Rouen France
Abi Li Queen Square Brain Bank Reta Lila Weston Institute of Neurological Studies UCL Institute of Neurology University College London London UK
Keith L. Ligon Division of Neuropathology Department of Pathology Brigham and Women's Hospital Boston, MA USA
Shino D. Magaki Section of Neuropathology Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California Los Angeles, CA USA
Florent Marguet Department of Pathology Rouen University Hospital Rouen France
Kathleen Millen Center for Integrative Brain Research Seattle Children's Research Institute Seattle, WA USA
Ghayda Mirzaa Department of Pediatrics University of Washington Seattle, WA USA; Center for Integrative Brain Research Seattle Children's Research Institute Seattle, WA USA
Edwin S. Monuki Department of Pathology and Laboratory Medicine UC Irvine School of Medicine Irvine, CA USA
Anders Oldfors Department of Pathology Sahlgrenska University Hospital Gothenburg Sweden
Geoffrey C. Owens Department of Neurosurgery David Geffen School of Medicine and Ronald Reagan UCLA Medical Center University of California Los Angeles, CA USA
Sandrine Passemard Department of Genetics Robert Debré Hospital Paris France; Paris Diderot University Paris France; Inserm U1141 Robert Debré Hospital Paris France
James M. Powers Department of Pathology and Laboratory Medicine University Rochester Medical Center Rochester, NY USA
Josefine Radke Department of Neuropathology Charité Universitätsmedizin Berlin Berlin Germany
R. Ross Reichard Mayo Clinic Rochester, MN USA
Tamas Revesz Queen Square Brain Bank Reta Lila Weston Institute of Neurological Studies UCL Institute of Neurology University College London London UK
Marie Rivera-Zengotita Department of Pathology, Immunology, and Laboratory Medicine University of Florida College of Medicine Gainesville, FL USA
Achira Roy Center for Integrative Brain Research Seattle Children's Research Institute Seattle, WA USA
Mariarita Santi Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia University of Pennsylvania Perelman School of Medicine Philadelphia, PA USA
Joseph R. Siebert Department of Laboratories Seattle Children's Hospital Departments of Pathology and Pediatrics University of Washington Seattle, WA USA
Colin Smith Academic Department of Neuropathology Centre for Clinical Brain Sciences University of Edinburgh Edinburgh UK
Werner Stenzel Department of Neuropathology Charité Universitätsmedizin Berlin Berlin Germany
Kinoko Suzuki Department of Pathology and Laboratory Medicine University of North Carolina Chapel Hill, NC USA
Randy Tashjian Section of Neuropathology Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California Los Angeles, CA USA
Maria Thom Departments of Neuropathology and Clinical and Experimental Epilepsy UCL Institute of Neurology London UK
Enza Maria Valente Section of Neurosciences Department of Medicine and Surgery University of Salerno Fisciano Italy
Marjo S. van den Knaap Department of Child Neurology VU University Medical...
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