Clinical neuroembryology development and developmental disorders of the human central nervous system
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| 100 | 1 | |a Donkelaar, Hendrik J. ten |d 1946- |e Verfasser |0 (DE-588)121740056 |4 aut | |
| 245 | 1 | 0 | |a Clinical neuroembryology |b development and developmental disorders of the human central nervous system |c Hans J. ten Donkelaar, Martin Lammens, Akira Hori... In co-operation with: Cor W. R. J. Cremers ... |
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| 700 | 1 | |a Lammens, Martin |e Verfasser |4 aut | |
| 700 | 1 | |a Hori, Akira |e Verfasser |4 aut | |
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Datensatz im Suchindex
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| adam_text | Chapter 1
Overview of the Development
of the Human Brain and Spinal Cord
Hans J. ten Donkelaar and Ton van der Vliet
1.1 Introduction 7
1.2 Major Stages in the Development
of the Human Brain and Spinal Cord . ... 1
1.3 The First 3 Weeks of Development 5
1.3.1 Implantation 6
1.3.2 Gastrulation 6
1.3.3 Folding of the Embryo 9
1.4 Neurulation 7 7
1.5 Development of the Spinal Cord 13
1.6 Pattern Formation of the Brain 14
1.7 Early Development of the Brain 16
1.7.1 Imaging of the Embryonic Brain 17
1.7.2 Neuromeres 78
1.7.3 The Ganglionic Eminences 20
1.8 Fetal Development of the Brain 20
1.8.1 The Cerebellum 20
1.8.2 The Cerebral Cortex 23
1.8.3 Cerebral Commissures 28
1.8.4 Imaging of the Fetal Brain 28
1.9 Development of the Meninges
and Choroid Plexuses 30
1.10 Development of the Blood Supply
of the Brain 31
1.11 Development of Fibre Tracts
(Including Development of Myelination) 37
References 40
Chapter 2
Mechanisms of Development
HansJ. ten Donkelaar
2.1 Introduction 47
2.2 Neural Induction 47
2.2.1 The Spemann Mangold Organizer 47
2.2.2 The Molecular Basis of Neural Induction . . 49
2.2.3 Polarity and the Establishment
of the Neuraxis 50
2.2.4 Neural Induction in Amniote Embryos . . . 50
2.2.5 Specific Pathways for Head Induction . . . . 52
2.3 Cell Lineage Studies and Fate Mapping . . 53
2.4 Pattern Formation 55
2.4.1 Regionalization of the Forebrain 58
2.4.2 The Midbrain Hindbrain Boundary
Organizer 59
2.4.3 Segmentation of the Hindbrain 61
2.5 Neurogenesis, Gliogenesis
and Migration 63
2.5.1 Neurogenesis: Primary and Secondary
Proliferative Compartments 63
2.5.2 Gliogenesis 66
2.5.3 Migration 68
2.6 Axon Outgrowth and Guidance 70
2.6.1 Pioneer Fibres 70
2.6.2 The Guidance of Axons to their Targets . . 72
2.6.3 Axon Guidance at Choice Points 74
2.6.4 Formation of Thalamocortical
and Corticofugal Projections 75
2.6.5 Formation of Topographic Maps 77
2.7 Programmed Cell Death 80
References 82
Chapter 3
Causes of Congenital Malformations
Martin Lammens, HansJ. ten Donkelaar,
John M.G. van Vugt, Gerard van Noort,
Michel Willemsen and Ben Hamel
3.1 Introduction 97
3.2 Causes of Congenital Malformations . . . 97
3.2.1 Genetic Disorders 97
Clinical Case 3.1
Meckel Gruber Syndrome 704
Akira Hori
3.2.2 Environmental Causes 706
Clinical Case 3.2
Cytomegalovirus Encephalopathy .... 770
Gerard van Noort
Clinical Case 3.3
Amnion Rupture Sequence 7 72
Martin Lammens
3.3 Prenatal Diagnosis 709
3.3.1 Ultrasound and Magnetic Resonance
Examination 709
3.3.2 Invasive Tests 118
Clinical Case 3.4
Traumatic Amniocentesis 7/9
Waney Squier
3.3.3 Genetic Diagnosis 720
3.4 Inborn Errors of Metabolism Affecting
theCNS 727
3.4.1 Inborn Errors of Metabolism
that Mainly Affect the CNS 122
VIII Contents
3.4.2 Multisystem Disorders
with CNS Involvement 122
Clinical Case 3.5
Congenital Disorders
of Glycosylation 124
Gerard van Noort
Clinical Case 3.6
Zellweger Syndrome 128
Mark D hooghe
3.5 Myelination Disorders 127 4.8
Clinical Case 3.7 4.8.1
Vanishing White Matter Disease 130
Caroline Van den Broecke
and Rudy Van Coster
3.6 Vascular Disorders 727
Clinical Case 3.8 4.8.2
Porencephaly 131
Pieter Wesseling
Clinical Case 3.9
Twin to Twin Transfusion 133 4.8.3
Martin Lammens
Clinical Case 3.10 4.9
Multicystic Leukoencephalopathy . ... 135 4.10
Martin Lammens
Clinical Case 3.11
Neonatal Alloimmune
Thrombocytopenia 736
Martin Lammens
3.7 Classifications of CNS Malformations . . 136 Chapi
References 138 The N
Hans.
Chapter 4 5.1
Neurulation and Neural Tube Defects 5.2
Hans J. ten Donkelaar, ReinierA. Mullaart, 5.3
Akira Hori and Kohei Shiota 5.3.1
4.1 Introduction 745 5.3.2
4.2 Primary Neurulation 745 5.4
4.2.1 Primary Neurulation in Chick 5.4.1
and Mammalian Embryos 745 5.4.2
4.2.2 Primary Neurulation in Human Embryos 749 5.4.3
4.3 Secondary Neurulation 752 5.4.4
4.4 Genetic Mouse Models 5.5
for Neural Tube Defects 754 5.5.1
4.5 Aetiology of Human Neural Tube Defects 756 5.5.2
4.5.1 Genetic Basis: Neural Tube Defects 5.5.3
as a Multifactorial Trait 756 5.5.4
4.5.2 Environmental Factors 757
4.6 Prenatal Diagnosis 757 5.5.5
4.7 Cranial Neural Tube Defects 758 5.6
4.7.1 Anencephaly 758
4.7.2 Encephaloceles
and Cranial Meningoceles 767
Clinical Case 4.1
Occipital Encephalocele 765
Max Kros
Clinical Case 4.2
Tectocerebellar Dysraphia 766
Akira Hori
Clinical Case 4.3
Cranial Meningoceles 767
Gerard van Noort and Akira Hori
Clinical Case 4.4
Rudimentary Occipital Meningocele . . . 769
Pieter Wesseling
Spinal Neural Tube Defects 777
Myeloceles, Myelemeningoceles
and Spinal Meningoceles 777
Clinical Case 4.5
The Spectrum of Deranged Neurulation 173
ReinierMullaart
Spinal Lipomas 775
Clinical Case 4.6
Spinal Lipomas 776
Reinier Mullaart
Spina Bifida Occulta
and Related Disorders 777
The Chiari Malformations 778
Caudal Dysgenesis 780
Clinical Case 4.7
OEIS Complex 784
Pieter Wesseling
References 785
:er5
leural Crest and Craniofacial Malformations
/. ten Donkelaar and Christ! Vermeij Keers
Introduction 797
Induction of the Neural Crest 792
Derivatives of the Neural Crest 193
The Cranial Neural Crest 793
The Trunk Neural Crest 795
Craniofacial Development 796
Early Development of the Face 796
Development of the Pharyngeal Arches . 798
Further Development of the Face 799
Development of the Skull 202
Neurocristopathies 204
Retinoic Acid Syndrome 204
Oculoauriculo vertebral Spectrum 205
Treacher Collins Syndrome 206
DiGeorge Sequence
and Related Disorders 206
Waardenburg Syndrome 209
Holoprosencephaly 209
Clinical Case 5.1
Alobar Holoprosencephaly 214
Harm Gerd Blaas
5.7 Abnormal Development of the Skull
with CNS Manifestations 213
5.7.1 The Craniosynostoses 213
Clinical Case 5.2
Apert Syndrome 218
Pieter Wesseling
Clinical Case 5.3
Thanatophoric Dysplasia 219
Pieter Wesseling
5.7.2 Cranial Base Abnormalities 220
References 220
Chapter 6
Development and Developmental Disorders
of the Spinal Cord
HansJ. ten Donkelaar and Akira Hori
6.1 Introduction 229
6.2 Gross Development of the Spinal Cord 229
6.2.1 A Few Notes on the Development
of the Vertebral Column 231
6.2.2 Ascensus Medullae 232
6.3 Developmental Events
in Spinal Neuronal Populations 233
6.4 The Specification of Cell Fates
in the Spinal Cord 234
6.4.1 Specification of Neuronal Fates
in the Ventral Spinal Cord 235
6.4.2 Patterning Cell Types
in the Dorsal Spinal Cord 237
6.5 Development of Dorsal Root Projections 237
6.6 Development of Spinal Ascending
Projections 241
6.7 Development of Descending Projections
to the Spinal Cord 242
6.7.1 Descending Projections
from the Brain Stem 243
6.7.2 Development of the Pyramidal Tract
in Rodents 245
6.7.3 Development of the Pyramidal Tract
in Macaque Monkeys 248
6.7 A Development of the Human
Pyramidal Tract 249
6.8 Developmental Anomalies
of the Spinal Cord 250
6.8.1 Anomalies of Histogenesis 250
6.8.2 Duplications of the Spinal Cord 251
Clinical Case 6.1
Diplomyelia 252
Akira Hori
6.8.3 Neurenteric Cysts 253
Clinical Case 6.2
A Spinal Intradural Enterogenous Cyst. . 254
Pieter Wesseling
6.8.4 Syringomyelia 256
Contents IX
6.8.5 Abnormal Course or Absence
of Fibre Tracts 256
Clinical Case 6.3
Absence of the Pyramidal Tracts 260
Pieter Wesseling
References 262
Chapter 7
Development and Developmental Disorders
of the Brain Stem
Hans J. ten Donkelaar, Martin Lammens,
Johannes R.M. Cruysberg and Cor W.J.R. Cremers
7.1 Introduction 269
7.2 Pattern Formation and Segmentation
of the Brain Stem 270
7.2.1 Pattern Formation of the Brain Stem . . . . 270
Clinical Case 7.1
Agenesis of the Mesencephalon
and Metencephalon
with Cerebellar Hypoplasia 272
Harvey Sarnat
7.2.2 Segmentation of the Brain Stem 271
7.3 Development and Developmental
Disorders of the Cranial Nerves 274
7.3.1 Development of the Cranial Nerves
and Their Nuclei in Rodents 274
7.3.2 Development of Cranial Nerve Ganglia
in Rodents 277
7.3.3 Developmental and Developmental
Disorders of the Human Cranial Nerves . . 277
7.3.4 Congenital Cranial Dysinnervation
Disorders 279
Clinical Case 7.2
Congenital Facial Palsy 283
Martin Lammens
Clinical Case 7.3
Mobius Syndrome 285
Pieter Wesseling and Martin Lammens
7.3.5 The Sudden Infant Death Syndrome . ... 286
7.4 Development of the Auditory System . . 286
7.4.1 Development of the Ear 287
7.4.2 Development of the Auditory Projections 291
7.4.3 Developmental Disorders
of the Auditory System 293
7.4.4 Genes Involved in Deafness 294
Clinical Case 7.4
Branchio oto renal Syndrome 298
Cor W.J.R. Cremers
Clinical Case 7.5
Usher Syndrome 300
Cor W.J.R. Cremers
References .30/
X Contents
Chapter 8
Development and Developmental Disorders
of the Human Cerebellum
Hans J. ten Donkelaar, Martin Lammens,
Pieter Wesseling andAkira Hori
8.1 Introduction 309
8.2 Some Notes on the Anatomy
of the Cerebellum 309
8.2.1 Subdivision 309
8.2.2 Compartmentalization 310
8.2.3 Major Fibre Connections 311
8.2.4 Precerebellar Nuclei 312
8.3 Morphogenesis of the Cerebellum . ... 312
8.4 Four Basic Steps in the Histogenesis
of the Cerebellum 314
8.4.1 Characterization
of the Cerebellar Territory 314
Clinical Case 8.1
Rhombencephalosynapsis 317
Jennian Geddes
8.4.2 Formation of Two Proliferative
Compartments 318
8.4.3 Inward Migration of Granule cells 319
8.4.4 Differentiation of Cerebellar Neurons . . .321
Clinical Case 8.2
Cerebello cortical Heterotopia
in the Dentate Nucleus 324
Akira Hori
8.5 Development of the Precerebellar Nuclei 325
8.5.1 Upper Precerebellar System 526
8.5.2 Lower Precerebellar System 326
8.5.3 Inferior Olivary Malformations 327
8.6 Mouse Mutants
with Cerebellar Malformation 327
8.7 Developmental Disorders
of the Cerebellum 329
8.7.1 Midline or Vermis Malformations 329
Clinical Case 8.3
Dandy Walker Syndrome 333
Gerard van Noort
Clinical Case 8.4
Joubert Syndrome 334
Pieter Wesseling
8.7.2 Cerebellar Hypoplasia 332
8.7.3 Pontocerebellar Hypoplasias 332
Clinical Case 8.5
Pontocerebellar Hypoplasia 336
Martin Lammens
8.7.4 Cortical Dysplasias 337
Clinical Case 8.6
Dysplasia of the Cerebellum
with Extreme Hydrocephalus 338
Martin Lammens
References 339
Chapter 9
Development and Developmental Disorders
of the Forebrain
Hans J. ten Donkelaar, Martin Lammens,
Johannes R.M. Cruysberg, Akira Hori, Kohei Shiota
and Berit Verbist
9.1 Introduction 345
9.2 Prosomeres and Pattern Formation
of the Forebrain 346
9.3 Development of the Diencephalon . . . . 347
9.3.1 Development of the Thalamus 348
9.3.2 Development of the Hypothalamus .... 354
9.3.3 Development of the Pituitary Gland .... 356
9.3.4 Developmental Disorders
of the Hypothalamus
and the Pituitary Gland 358
Clinical Case 9.1
Duplication of the Pituitary Gland . ... 359
Akira Hori
Clinical Case 9.2
Pharyngosellar Pituitary 360
Akira Hori
9.4 Development of the Visual System .... 362
9.4.1 Development of the Eye 362
9.4.2 Congenital Malformations of the Eye . . . 365
Clinical Case 9.3
Aniridia 365
Hans Cruysberg
Clinical Case 9.4
Retinitis Pigmentosa
with CNS Malformations 366
Hans Cruysberg
9.4.3 Development of the Visual Projections . . 370
Clinical Case 9.5
Isolated Absence of the Optic Chiasm . . 372
Nomdo M.Jansonius and Ton van der Vliet
9.5 Overview of the Development
of theTelencephalon 371
9.6 Development of the Rhinencephalon . . 380
9.7 The Prosencephalies 384
9.7.1 Aprosencephaly 386
Clinical Case 9.6
Aprosencephaly 385
Gerard van Noort
9.7.2 Holoprosencephaly 386
Clinical Case 9.7
Middle Interhemispheric Variant
of Holoprosencephaly 391
Martin Lammens
9.7.3 Septo optic Dysplasia 394
Clinical Case 9.8
Septo optic Dysplasia 395
Akira Hori
9.7.A Isolated Arhinencephaly 394
9.8 Development and Developmental
Disorders of the Basal Ganglia
and the Amygdala 396
9.8.1 Development of the Basal Ganglia 396
9.8.2 Congenital and Acquired Disorders
of the Basal Ganglia 403
Clinical Case 9.9
Familial Striatal Degeneration
(Glutaric Aciduria Type 1) 406
Martin Lammens
Clinical Case 9.10
Leigh Syndrome 408
Martin Lammens
9.8.3 Development of the Amygdala 470
References 47 7
Chapter 10
Development and Developmental Disorders
of the Cerebral Cortex
HansJ. ten Donkelaar, Martin Lammens, Willy Renier,
Ben Hamel, Akira Hori and Berit Verbist
10.1 Introduction 429
10.2 Overview of the Cerebral Cortex 429
10.2.1 TheNeocortex 429
10.2.2 The Allocortex 432
10.3 Overview of Main Cortical Connections 435
10.3.1 Thalamocortical Projections 435
10.3.2 The Pyramidal Tract 436
10.3.3 The Corpus Callosum 437
10.4 Development of the Neocortex 437
10.4.1 Development of the Neocortex in Rodents 439
10.4.2 Development of the Human Neocortex . . 446
Clinical Case 10.1
Precocious Cerebral Development .... 448
Akira Hori
10.5 Development of the Hippocampal
Formation 453
10.6 Development of the Main Cortical
Connections 457
10.6.1 Development of Thalamocortical
Projections 457
10.6.2 Development of the Pyramidal Tract. . . . 457
10.6.3 Development of the Corpus Callosum . . . 457
Clinical Case 10.2
Temporal Lobe Dysgenesis 458
Akira Hori
10.7 Developmental Disorders
of the Cerebral Cortex 463
10.7.1 Malformations due to Abnormal
Neuronal/Glial Proliferation/Apoptosis . . 464
Clinical Case 10.3
Extreme Microcephaly 466
Pieter Wesseling
Clinical Case 10.4
Microlissencephaly 468
Martin Lammens
Contents XI
Clinical Case 10.5
Tuberous Sclerosis Complex 470
Gerard van Noon
Clinical Case 10.6
Hemimegalencephaly 472
Willy Renter
10.7.2 Malformations due to Abnormal
Cortical Migration 473
Clinical Case 10.7
Bilateral Periventricular
Nodular Heterotopia 477
Akiyoshi Kakita
Clinical Case 10.8
Miller Dieker Syndrome 479
Martin Lammens
Clinical Case 10.9
Subcortical Band Heterotopia 480
Masashi Mizuguchi
Clinical Case 10.10
Lissencephaly
with Cerebellar Hypoplasia 482
Hajime Miyata
Clinical Case 10.11
Walker Warburg Syndrome 484
Gerard van Noon
Clinical Case 10.12
Fukuyama Type Congenital
Muscular Dystrophy 486
Mieko Yoshioka andSachio Takashima
10.7.3 Malformations due to Abnormal
Cortical Organization and Late Migration 488
10.7.4 Disorders of Cortical Development
and Epilepsy 489
Clinical Case 10.13
Neuronal Migration Disorders
and Epilepsy 490
Willy Renier
Clinical Case 10.14
Ammon s Horn Sclerosis 493
Martin Lammens
10.7.5 Vascular Disorders 492
10.7.6 Disorders of Cortical Connectivity 494
Clinical Case 10.15
Callosal Agenesis 496
Pieter Wesseling and Gerard van Noon
10.7.7 Mental Retardation 496
Clinical Case 10.16
Male Rett Syndrome 500
Jan Rotteveel
10.7.8 Neurobehavioural Disorders 501
References 504
Subject Index 519
|
| adam_txt |
Chapter 1
Overview of the Development
of the Human Brain and Spinal Cord
Hans J. ten Donkelaar and Ton van der Vliet
1.1 Introduction 7
1.2 Major Stages in the Development
of the Human Brain and Spinal Cord . . 1
1.3 The First 3 Weeks of Development 5
1.3.1 Implantation 6
1.3.2 Gastrulation 6
1.3.3 Folding of the Embryo 9
1.4 Neurulation 7 7
1.5 Development of the Spinal Cord 13
1.6 Pattern Formation of the Brain 14
1.7 Early Development of the Brain 16
1.7.1 Imaging of the Embryonic Brain 17
1.7.2 Neuromeres 78
1.7.3 The Ganglionic Eminences 20
1.8 Fetal Development of the Brain 20
1.8.1 The Cerebellum 20
1.8.2 The Cerebral Cortex 23
1.8.3 Cerebral Commissures 28
1.8.4 Imaging of the Fetal Brain 28
1.9 Development of the Meninges
and Choroid Plexuses 30
1.10 Development of the Blood Supply
of the Brain 31
1.11 Development of Fibre Tracts
(Including Development of Myelination) 37
References 40
Chapter 2
Mechanisms of Development
HansJ. ten Donkelaar
2.1 Introduction 47
2.2 Neural Induction 47
2.2.1 The Spemann Mangold Organizer 47
2.2.2 The Molecular Basis of Neural Induction . . 49
2.2.3 Polarity and the Establishment
of the Neuraxis 50
2.2.4 Neural Induction in Amniote Embryos . . . 50
2.2.5 Specific Pathways for Head Induction . . . . 52
2.3 Cell Lineage Studies and Fate Mapping . . 53
2.4 Pattern Formation 55
2.4.1 Regionalization of the Forebrain 58
2.4.2 The Midbrain Hindbrain Boundary
Organizer 59
2.4.3 Segmentation of the Hindbrain 61
2.5 Neurogenesis, Gliogenesis
and Migration 63
2.5.1 Neurogenesis: Primary and Secondary
Proliferative Compartments 63
2.5.2 Gliogenesis 66
2.5.3 Migration 68
2.6 Axon Outgrowth and Guidance 70
2.6.1 Pioneer Fibres 70
2.6.2 The Guidance of Axons to their Targets . . 72
2.6.3 Axon Guidance at Choice Points 74
2.6.4 Formation of Thalamocortical
and Corticofugal Projections 75
2.6.5 Formation of Topographic Maps 77
2.7 Programmed Cell Death 80
References 82
Chapter 3
Causes of Congenital Malformations
Martin Lammens, HansJ. ten Donkelaar,
John M.G. van Vugt, Gerard van Noort,
Michel Willemsen and Ben Hamel
3.1 Introduction 97
3.2 Causes of Congenital Malformations . . . 97
3.2.1 Genetic Disorders 97
Clinical Case 3.1
Meckel Gruber Syndrome 704
Akira Hori
3.2.2 Environmental Causes 706
Clinical Case 3.2
Cytomegalovirus Encephalopathy . 770
Gerard van Noort
Clinical Case 3.3
Amnion Rupture Sequence 7 72
Martin Lammens
3.3 Prenatal Diagnosis 709
3.3.1 Ultrasound and Magnetic Resonance
Examination 709
3.3.2 Invasive Tests 118
Clinical Case 3.4
Traumatic Amniocentesis 7/9
Waney Squier
3.3.3 Genetic Diagnosis 720
3.4 Inborn Errors of Metabolism Affecting
theCNS 727
3.4.1 Inborn Errors of Metabolism
that Mainly Affect the CNS 122
VIII Contents
3.4.2 Multisystem Disorders
with CNS Involvement 122
Clinical Case 3.5
Congenital Disorders
of Glycosylation 124
Gerard van Noort
Clinical Case 3.6
Zellweger Syndrome 128
Mark D'hooghe
3.5 Myelination Disorders 127 4.8
Clinical Case 3.7 4.8.1
Vanishing White Matter Disease 130
Caroline Van den Broecke
and Rudy Van Coster
3.6 Vascular Disorders 727
Clinical Case 3.8 4.8.2
Porencephaly 131
Pieter Wesseling
Clinical Case 3.9
Twin to Twin Transfusion 133 4.8.3
Martin Lammens
Clinical Case 3.10 4.9
Multicystic Leukoencephalopathy . . 135 4.10
Martin Lammens
Clinical Case 3.11
Neonatal Alloimmune
Thrombocytopenia 736
Martin Lammens
3.7 Classifications of CNS Malformations . . 136 Chapi
References 138 The N
Hans.
Chapter 4 5.1
Neurulation and Neural Tube Defects 5.2
Hans J. ten Donkelaar, ReinierA. Mullaart, 5.3
Akira Hori and Kohei Shiota 5.3.1
4.1 Introduction 745 5.3.2
4.2 Primary Neurulation 745 5.4
4.2.1 Primary Neurulation in Chick 5.4.1
and Mammalian Embryos 745 5.4.2
4.2.2 Primary Neurulation in Human Embryos 749 5.4.3
4.3 Secondary Neurulation 752 5.4.4
4.4 Genetic Mouse Models 5.5
for Neural Tube Defects 754 5.5.1
4.5 Aetiology of Human Neural Tube Defects 756 5.5.2
4.5.1 Genetic Basis: Neural Tube Defects 5.5.3
as a Multifactorial Trait 756 5.5.4
4.5.2 Environmental Factors 757
4.6 Prenatal Diagnosis 757 5.5.5
4.7 Cranial Neural Tube Defects 758 5.6
4.7.1 Anencephaly 758
4.7.2 Encephaloceles
and Cranial Meningoceles 767
Clinical Case 4.1
Occipital Encephalocele 765
Max Kros
Clinical Case 4.2
Tectocerebellar Dysraphia 766
Akira Hori
Clinical Case 4.3
Cranial Meningoceles 767
Gerard van Noort and Akira Hori
Clinical Case 4.4
Rudimentary Occipital Meningocele . . . 769
Pieter Wesseling
Spinal Neural Tube Defects 777
Myeloceles, Myelemeningoceles
and Spinal Meningoceles 777
Clinical Case 4.5
The Spectrum of Deranged Neurulation 173
ReinierMullaart
Spinal Lipomas 775
Clinical Case 4.6
Spinal Lipomas 776
Reinier Mullaart
Spina Bifida Occulta
and Related Disorders 777
The Chiari Malformations 778
Caudal Dysgenesis 780
Clinical Case 4.7
OEIS Complex 784
Pieter Wesseling
References 785
:er5
leural Crest and Craniofacial Malformations
/. ten Donkelaar and Christ! Vermeij Keers
Introduction 797
Induction of the Neural Crest 792
Derivatives of the Neural Crest 193
The Cranial Neural Crest 793
The Trunk Neural Crest 795
Craniofacial Development 796
Early Development of the Face 796
Development of the Pharyngeal Arches . 798
Further Development of the Face 799
Development of the Skull 202
Neurocristopathies 204
Retinoic Acid Syndrome 204
Oculoauriculo vertebral Spectrum 205
Treacher Collins Syndrome 206
DiGeorge Sequence
and Related Disorders 206
Waardenburg Syndrome 209
Holoprosencephaly 209
Clinical Case 5.1
Alobar Holoprosencephaly 214
Harm Gerd Blaas
5.7 Abnormal Development of the Skull
with CNS Manifestations 213
5.7.1 The Craniosynostoses 213
Clinical Case 5.2
Apert Syndrome 218
Pieter Wesseling
Clinical Case 5.3
Thanatophoric Dysplasia 219
Pieter Wesseling
5.7.2 Cranial Base Abnormalities 220
References 220
Chapter 6
Development and Developmental Disorders
of the Spinal Cord
HansJ. ten Donkelaar and Akira Hori
6.1 Introduction 229
6.2 Gross Development of the Spinal Cord 229
6.2.1 A Few Notes on the Development
of the Vertebral Column 231
6.2.2 Ascensus Medullae 232
6.3 Developmental Events
in Spinal Neuronal Populations 233
6.4 The Specification of Cell Fates
in the Spinal Cord 234
6.4.1 Specification of Neuronal Fates
in the Ventral Spinal Cord 235
6.4.2 Patterning Cell Types
in the Dorsal Spinal Cord 237
6.5 Development of Dorsal Root Projections 237
6.6 Development of Spinal Ascending
Projections 241
6.7 Development of Descending Projections
to the Spinal Cord 242
6.7.1 Descending Projections
from the Brain Stem 243
6.7.2 Development of the Pyramidal Tract
in Rodents 245
6.7.3 Development of the Pyramidal Tract
in Macaque Monkeys 248
6.7 A Development of the Human
Pyramidal Tract 249
6.8 Developmental Anomalies
of the Spinal Cord 250
6.8.1 Anomalies of Histogenesis 250
6.8.2 Duplications of the Spinal Cord 251
Clinical Case 6.1
Diplomyelia 252
Akira Hori
6.8.3 Neurenteric Cysts 253
Clinical Case 6.2
A Spinal Intradural Enterogenous Cyst. . 254
Pieter Wesseling
6.8.4 Syringomyelia 256
Contents IX
6.8.5 Abnormal Course or Absence
of Fibre Tracts 256
Clinical Case 6.3
Absence of the Pyramidal Tracts 260
Pieter Wesseling
References 262
Chapter 7
Development and Developmental Disorders
of the Brain Stem
Hans J. ten Donkelaar, Martin Lammens,
Johannes R.M. Cruysberg and Cor W.J.R. Cremers
7.1 Introduction 269
7.2 Pattern Formation and Segmentation
of the Brain Stem 270
7.2.1 Pattern Formation of the Brain Stem . . . . 270
Clinical Case 7.1
Agenesis of the Mesencephalon
and Metencephalon
with Cerebellar Hypoplasia 272
Harvey Sarnat
7.2.2 Segmentation of the Brain Stem 271
7.3 Development and Developmental
Disorders of the Cranial Nerves 274
7.3.1 Development of the Cranial Nerves
and Their Nuclei in Rodents 274
7.3.2 Development of Cranial Nerve Ganglia
in Rodents 277
7.3.3 Developmental and Developmental
Disorders of the Human Cranial Nerves . . 277
7.3.4 Congenital Cranial Dysinnervation
Disorders 279
Clinical Case 7.2
Congenital Facial Palsy 283
Martin Lammens
Clinical Case 7.3
Mobius Syndrome 285
Pieter Wesseling and Martin Lammens
7.3.5 The Sudden Infant Death Syndrome . . 286
7.4 Development of the Auditory System . . 286
7.4.1 Development of the Ear 287
7.4.2 Development of the Auditory Projections 291
7.4.3 Developmental Disorders
of the Auditory System 293
7.4.4 Genes Involved in Deafness 294
Clinical Case 7.4
Branchio oto renal Syndrome 298
Cor W.J.R. Cremers
Clinical Case 7.5
Usher Syndrome 300
Cor W.J.R. Cremers
References .30/
X Contents
Chapter 8
Development and Developmental Disorders
of the Human Cerebellum
Hans J. ten Donkelaar, Martin Lammens,
Pieter Wesseling andAkira Hori
8.1 Introduction 309
8.2 Some Notes on the Anatomy
of the Cerebellum 309
8.2.1 Subdivision 309
8.2.2 Compartmentalization 310
8.2.3 Major Fibre Connections 311
8.2.4 Precerebellar Nuclei 312
8.3 Morphogenesis of the Cerebellum . . 312
8.4 Four Basic Steps in the Histogenesis
of the Cerebellum 314
8.4.1 Characterization
of the Cerebellar Territory 314
Clinical Case 8.1
Rhombencephalosynapsis 317
Jennian Geddes
8.4.2 Formation of Two Proliferative
Compartments 318
8.4.3 Inward Migration of Granule cells 319
8.4.4 Differentiation of Cerebellar Neurons . . .321
Clinical Case 8.2
Cerebello cortical Heterotopia
in the Dentate Nucleus 324
Akira Hori
8.5 Development of the Precerebellar Nuclei 325
8.5.1 Upper Precerebellar System 526
8.5.2 Lower Precerebellar System 326
8.5.3 Inferior Olivary Malformations 327
8.6 Mouse Mutants
with Cerebellar Malformation 327
8.7 Developmental Disorders
of the Cerebellum 329
8.7.1 Midline or Vermis Malformations 329
Clinical Case 8.3
Dandy Walker Syndrome 333
Gerard van Noort
Clinical Case 8.4
Joubert Syndrome 334
Pieter Wesseling
8.7.2 Cerebellar Hypoplasia 332
8.7.3 Pontocerebellar Hypoplasias 332
Clinical Case 8.5
Pontocerebellar Hypoplasia 336
Martin Lammens
8.7.4 Cortical Dysplasias 337
Clinical Case 8.6
Dysplasia of the Cerebellum
with Extreme Hydrocephalus 338
Martin Lammens
References 339
Chapter 9
Development and Developmental Disorders
of the Forebrain
Hans J. ten Donkelaar, Martin Lammens,
Johannes R.M. Cruysberg, Akira Hori, Kohei Shiota
and Berit Verbist
9.1 Introduction 345
9.2 Prosomeres and Pattern Formation
of the Forebrain 346
9.3 Development of the Diencephalon . . . . 347
9.3.1 Development of the Thalamus 348
9.3.2 Development of the Hypothalamus . 354
9.3.3 Development of the Pituitary Gland . 356
9.3.4 Developmental Disorders
of the Hypothalamus
and the Pituitary Gland 358
Clinical Case 9.1
Duplication of the Pituitary Gland . . 359
Akira Hori
Clinical Case 9.2
Pharyngosellar Pituitary 360
Akira Hori
9.4 Development of the Visual System . 362
9.4.1 Development of the Eye 362
9.4.2 Congenital Malformations of the Eye . . . 365
Clinical Case 9.3
Aniridia 365
Hans Cruysberg
Clinical Case 9.4
Retinitis Pigmentosa
with CNS Malformations 366
Hans Cruysberg
9.4.3 Development of the Visual Projections . . 370
Clinical Case 9.5
Isolated Absence of the Optic Chiasm . . 372
Nomdo M.Jansonius and Ton van der Vliet
9.5 Overview of the Development
of theTelencephalon 371
9.6 Development of the Rhinencephalon . . 380
9.7 The Prosencephalies 384
9.7.1 Aprosencephaly 386
Clinical Case 9.6
Aprosencephaly 385
Gerard van Noort
9.7.2 Holoprosencephaly 386
Clinical Case 9.7
Middle Interhemispheric Variant
of Holoprosencephaly 391
Martin Lammens
9.7.3 Septo optic Dysplasia 394
Clinical Case 9.8
Septo optic Dysplasia 395
Akira Hori
9.7.A Isolated Arhinencephaly 394
9.8 Development and Developmental
Disorders of the Basal Ganglia
and the Amygdala 396
9.8.1 Development of the Basal Ganglia 396
9.8.2 Congenital and Acquired Disorders
of the Basal Ganglia 403
Clinical Case 9.9
Familial Striatal Degeneration
(Glutaric Aciduria Type 1) 406
Martin Lammens
Clinical Case 9.10
Leigh Syndrome 408
Martin Lammens
9.8.3 Development of the Amygdala 470
References 47 7
Chapter 10
Development and Developmental Disorders
of the Cerebral Cortex
HansJ. ten Donkelaar, Martin Lammens, Willy Renier,
Ben Hamel, Akira Hori and Berit Verbist
10.1 Introduction 429
10.2 Overview of the Cerebral Cortex 429
10.2.1 TheNeocortex 429
10.2.2 The Allocortex 432
10.3 Overview of Main Cortical Connections 435
10.3.1 Thalamocortical Projections 435
10.3.2 The Pyramidal Tract 436
10.3.3 The Corpus Callosum 437
10.4 Development of the Neocortex 437
10.4.1 Development of the Neocortex in Rodents 439
10.4.2 Development of the Human Neocortex . . 446
Clinical Case 10.1
Precocious Cerebral Development . 448
Akira Hori
10.5 Development of the Hippocampal
Formation 453
10.6 Development of the Main Cortical
Connections 457
10.6.1 Development of Thalamocortical
Projections 457
10.6.2 Development of the Pyramidal Tract. . . . 457
10.6.3 Development of the Corpus Callosum . . . 457
Clinical Case 10.2
Temporal Lobe Dysgenesis 458
Akira Hori
10.7 Developmental Disorders
of the Cerebral Cortex 463
10.7.1 Malformations due to Abnormal
Neuronal/Glial Proliferation/Apoptosis . . 464
Clinical Case 10.3
Extreme Microcephaly 466
Pieter Wesseling
Clinical Case 10.4
Microlissencephaly 468
Martin Lammens
Contents XI
Clinical Case 10.5
Tuberous Sclerosis Complex 470
Gerard van Noon
Clinical Case 10.6
Hemimegalencephaly 472
Willy Renter
10.7.2 Malformations due to Abnormal
Cortical Migration 473
Clinical Case 10.7
Bilateral Periventricular
Nodular Heterotopia 477
Akiyoshi Kakita
Clinical Case 10.8
Miller Dieker Syndrome 479
Martin Lammens
Clinical Case 10.9
Subcortical Band Heterotopia 480
Masashi Mizuguchi
Clinical Case 10.10
Lissencephaly
with Cerebellar Hypoplasia 482
Hajime Miyata
Clinical Case 10.11
Walker Warburg Syndrome 484
Gerard van Noon
Clinical Case 10.12
Fukuyama Type Congenital
Muscular Dystrophy 486
Mieko Yoshioka andSachio Takashima
10.7.3 Malformations due to Abnormal
Cortical Organization and Late Migration 488
10.7.4 Disorders of Cortical Development
and Epilepsy 489
Clinical Case 10.13
Neuronal Migration Disorders
and Epilepsy 490
Willy Renier
Clinical Case 10.14
Ammon's Horn Sclerosis 493
Martin Lammens
10.7.5 Vascular Disorders 492
10.7.6 Disorders of Cortical Connectivity 494
Clinical Case 10.15
Callosal Agenesis 496
Pieter Wesseling and Gerard van Noon
10.7.7 Mental Retardation 496
Clinical Case 10.16
Male Rett Syndrome 500
Jan Rotteveel
10.7.8 Neurobehavioural Disorders 501
References 504
Subject Index 519 |
| any_adam_object | 1 |
| any_adam_object_boolean | 1 |
| author | Donkelaar, Hendrik J. ten 1946- Lammens, Martin Hori, Akira |
| author2 | Cremers, Cornelius W. R. J. 1945- |
| author2_role | ctb |
| author2_variant | c w r j c cwrj cwrjc |
| author_GND | (DE-588)121740056 (DE-588)124264867 |
| author_facet | Donkelaar, Hendrik J. ten 1946- Lammens, Martin Hori, Akira Cremers, Cornelius W. R. J. 1945- |
| author_role | aut aut aut |
| author_sort | Donkelaar, Hendrik J. ten 1946- |
| author_variant | h j t d hjt hjtd m l ml a h ah |
| building | Verbundindex |
| bvnumber | BV022305118 |
| classification_rvk | WW 2324 XG 8800 |
| classification_tum | MED 000 |
| collection | ZDB-1-SMI ZDB-2-SME |
| ctrlnum | (OCoLC)315475129 (DE-599)BVBBV022305118 |
| discipline | Biologie Medizin |
| discipline_str_mv | Biologie Medizin |
| doi_str_mv | 10.1007/3-540-34659-7 |
| format | Electronic eBook |
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| genre | (DE-588)4143413-4 Aufsatzsammlung gnd-content |
| genre_facet | Aufsatzsammlung |
| id | DE-604.BV022305118 |
| illustrated | Illustrated |
| index_date | 2024-07-02T16:56:28Z |
| indexdate | 2024-11-25T18:02:39Z |
| institution | BVB |
| isbn | 9783540346593 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-015515023 |
| oclc_num | 315475129 |
| open_access_boolean | |
| owner | DE-355 DE-BY-UBR DE-188 DE-12 DE-384 DE-473 DE-BY-UBG DE-703 DE-29 DE-19 DE-BY-UBM DE-91 DE-BY-TUM DE-739 DE-20 DE-706 DE-1046 DE-1047 DE-1102 DE-858 DE-1028 DE-573 DE-859 DE-860 DE-M347 DE-1049 DE-92 DE-898 DE-BY-UBR DE-863 DE-BY-FWS DE-862 DE-BY-FWS DE-128 DE-54 DE-22 DE-BY-UBG DE-150 DE-155 DE-BY-UBR DE-2070s DE-521 DE-522 DE-526 DE-11 DE-83 DE-70 DE-634 |
| owner_facet | DE-355 DE-BY-UBR DE-188 DE-12 DE-384 DE-473 DE-BY-UBG DE-703 DE-29 DE-19 DE-BY-UBM DE-91 DE-BY-TUM DE-739 DE-20 DE-706 DE-1046 DE-1047 DE-1102 DE-858 DE-1028 DE-573 DE-859 DE-860 DE-M347 DE-1049 DE-92 DE-898 DE-BY-UBR DE-863 DE-BY-FWS DE-862 DE-BY-FWS DE-128 DE-54 DE-22 DE-BY-UBG DE-150 DE-155 DE-BY-UBR DE-2070s DE-521 DE-522 DE-526 DE-11 DE-83 DE-70 DE-634 |
| physical | 1 Online-Ressource (XI, 536 S.) Ill., graph. Darst. |
| psigel | ZDB-1-SMI ZDB-2-SME |
| publishDate | 2006 |
| publishDateSearch | 2006 |
| publishDateSort | 2006 |
| publisher | Springer |
| record_format | marc |
| spellingShingle | Donkelaar, Hendrik J. ten 1946- Lammens, Martin Hori, Akira Clinical neuroembryology development and developmental disorders of the human central nervous system Zentralnervensystem (DE-588)4067637-7 gnd Krankheit (DE-588)4032844-2 gnd Angeborene Krankheit (DE-588)4331107-6 gnd Embryonalentwicklung (DE-588)4070792-1 gnd Embryopathie (DE-588)4137389-3 gnd Pränatale Diagnostik (DE-588)4047000-3 gnd |
| subject_GND | (DE-588)4067637-7 (DE-588)4032844-2 (DE-588)4331107-6 (DE-588)4070792-1 (DE-588)4137389-3 (DE-588)4047000-3 (DE-588)4143413-4 |
| title | Clinical neuroembryology development and developmental disorders of the human central nervous system |
| title_auth | Clinical neuroembryology development and developmental disorders of the human central nervous system |
| title_exact_search | Clinical neuroembryology development and developmental disorders of the human central nervous system |
| title_exact_search_txtP | Clinical neuroembryology development and developmental disorders of the human central nervous system |
| title_full | Clinical neuroembryology development and developmental disorders of the human central nervous system Hans J. ten Donkelaar, Martin Lammens, Akira Hori... In co-operation with: Cor W. R. J. Cremers ... |
| title_fullStr | Clinical neuroembryology development and developmental disorders of the human central nervous system Hans J. ten Donkelaar, Martin Lammens, Akira Hori... In co-operation with: Cor W. R. J. Cremers ... |
| title_full_unstemmed | Clinical neuroembryology development and developmental disorders of the human central nervous system Hans J. ten Donkelaar, Martin Lammens, Akira Hori... In co-operation with: Cor W. R. J. Cremers ... |
| title_short | Clinical neuroembryology |
| title_sort | clinical neuroembryology development and developmental disorders of the human central nervous system |
| title_sub | development and developmental disorders of the human central nervous system |
| topic | Zentralnervensystem (DE-588)4067637-7 gnd Krankheit (DE-588)4032844-2 gnd Angeborene Krankheit (DE-588)4331107-6 gnd Embryonalentwicklung (DE-588)4070792-1 gnd Embryopathie (DE-588)4137389-3 gnd Pränatale Diagnostik (DE-588)4047000-3 gnd |
| topic_facet | Zentralnervensystem Krankheit Angeborene Krankheit Embryonalentwicklung Embryopathie Pränatale Diagnostik Aufsatzsammlung |
| url | https://doi.org/10.1007/3-540-34659-7 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=015515023&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT donkelaarhendrikjten clinicalneuroembryologydevelopmentanddevelopmentaldisordersofthehumancentralnervoussystem AT lammensmartin clinicalneuroembryologydevelopmentanddevelopmentaldisordersofthehumancentralnervoussystem AT horiakira clinicalneuroembryologydevelopmentanddevelopmentaldisordersofthehumancentralnervoussystem AT cremerscorneliuswrj clinicalneuroembryologydevelopmentanddevelopmentaldisordersofthehumancentralnervoussystem |