Clinical Neuroembryology : Development and Developmental Disorders of the Human Central Nervous System

by Donkelaar, H. J. Ten; Cremers, C. W. R. J.; Hori, Akira

• ISBN13: 9783540291404
• ISBN10: 3540291407
• Edition: 1st
• Format: Hardcover
• Copyright: 2006-07-16
• Publisher: Springer Verlag

Summary

The spectacular progress in developmental neurobiology, the dramatic advances in (neuro)genetics and the high resolution of the modern imaging techniques applicable to developmental disorders of the human brain and spinal cord have created a novel insight into the developmental history of the central nervous system (CNS). Clinical Neuroembryology provides a comprehensive overview of the development of the human CNS in the context of its many developmental disorders due to genetic, environmental and hypoxic causes. It is unique in the combination of data from human embryology, animal research and developmental neuropathology.

Table of Contents

Overview of the Development of the Human Brain and Spinal Cord
Hans J. ten Donkelaar
Ton van der Vliet
Introduction	1	(1)
Major Stages in the Development of the Human Brain and Spinal Cord	1	(4)
The First 3 Weeks of Development	5	(6)
Implantation	6	(1)
Gastrulation	6	(3)
Folding of the Embryo	9	(2)
Neurulation	11	(2)
Development of the Spinal Cord	13	(1)
Pattern Formation of the Brain	14	(2)
Early Development of the Brain	16	(4)
Imaging of the Embryonic Brain	17	(1)
Neuromeres	18	(2)
The Ganglionic Eminences	20	(1)
Fetal Development of the Brain	20	(10)
The Cerebellum	20	(3)
The Cerebral Cortex	23	(5)
Cerebral Commissures	28	(1)
Imaging of the Fetal Brain	28	(2)
Development of the Meninges and Choroid Plexuses	30	(1)
Development of the Blood Supply of the Brain	31	(6)
Development of Fibre Tracts (Including Development of Myelination)	37	(10)
References	40	(7)
Mechanisms of Development
Hans J. ten Donkelaar
Introduction	47	(1)
Neural Induction	47	(6)
The Spemann--Mangold Organizer	47	(2)
The Molecular Basis of Neural Induction	49	(1)
Polarity and the Establishment of the Neuraxis	50	(1)
Neural Induction in Amniote Embryos	50	(2)
Specific Pathways for Head Induction	52	(1)
Cell Lineage Studies and Fate Mapping	53	(2)
Pattern Formation	55	(8)
Regionalization of the Forebrain	58	(1)
The Midbrain--Hindbrain Boundary Organizer	59	(2)
Segmentation of the Hindbrain	61	(2)
Neurogenesis, Gliogenesis and Migration	63	(7)
Neurogenesis: Primary and Secondary Proliferative Compartments	63	(3)
Gliogenesis	66	(2)
Migration	68	(2)
Axon Outgrowth and Guidance	70	(10)
Pioneer Fibres	70	(2)
The Guidance of Axons to their Targets	72	(2)
Axon Guidance at Choice Points	74	(1)
Formation of Thalamocortical and Corticofugal Projections	75	(2)
Formation of Topographic Maps	77	(3)
Programmed Cell Death	80	(17)
References	82	(15)
Causes of Congenital Malformations
Martin Lammens
Hans J. ten Donkelaar
John M.G. van Vugt
Gerard van Noort
Michel Willemsen
Ben Hamel
Introduction	97	(1)
Causes of Congenital Malformations	97	(12)
Genetic Disorders	97	(7)
Clinical Case 3.1 Meckel--Gruber Syndrome	104	(2)
Akira Hori
Environmental Causes	106	(4)
Clinical Case 3.2 Cytomegalovirus Encephalopathy	110	(2)
Gerard van Noort
Clinical Case 3.3 Amnion Rupture Sequence	112
Martin Lammens
Prenatal Diagnosis	109	(12)
Ultrasound and Magnetic Resonance Examination	109	(9)
Invasive Tests	118	(1)
Clinical Case 3.4 Traumatic Amniocentesis	119	(1)
Waney Squier
Genetic Diagnosis	120	(1)
Inborn Errors of Metabolism Affecting the CNS	121	(6)
Inborn Errors of Metabolism that Mainly Affect the CNS	122	(1)
Multisystem Disorders with CNS Involvement	122	(2)
Clinical Case 3.5 Congenital Disorders of Glycosylation	124	(4)
Gerard van Noort
Clinical Case 3.6 Zellweger Syndrome	128
Mark D'hooghe
Myelination Disorders	127	(1)
Clinical Case 3.7 Vanishing White Matter Disease	130
Caroline Van den Broecke
Rudy Van Coster
Vascular Disorders	127	(9)
Clinical Case 3.8 Porencephaly	131	(2)
Pieter Wesseling
Clinical Case 3.9 Twin-to-Twin Transfusion	133	(2)
Martin Lammens
Clinical Case 3.10 Multicystic Leukoencephalopathy	135	(1)
Martin Lammens
Clinical Case 3.11 Neonatal Alloimmune Thrombocytopenia	136	(1)
Martin Lammens
Classifications of CNS Malformations	136	(9)
References	138	(7)
Neurulation and Neural Tube Defects
Hans J. ten Donkelaar
Reinier A. Mullaart
Akira Hori
Kohei Shiota
Introduction	145	(1)
Primary Neurulation	145	(7)
Primary Neurulation in Chick and Mammalian Embryos	145	(4)
Primary Neurulation in Human Embryos	149	(3)
Secondary Neurulation	152	(2)
Genetic Mouse Models for Neural Tube Defects	154	(2)
Aetiology of Human Neural Tube Defects	156	(1)
Genetic Basis: Neural Tube Defects as a Multifactorial Trait	156	(1)
Environmental Factors	157	(1)
Prenatal Diagnosis	157	(1)
Cranial Neural Tube Defects	158	(13)
Anencephaly	158	(3)
Encephaloceles and Cranial Meningoceles	161	(4)
Clinical Case 4.1 Occipital Encephalocele	165	(1)
Max Kros
Clinical Case 4.2 Tectocerebellar Dysraphia	166	(1)
Akira Hori
Clinical Case 4.3 Cranial Meningoceles	167	(2)
Gerard van Noort
Akira Hori
Clinical Case 4.4 Rudimentary Occipital Meningocele	169	(2)
Pieter Wesseling
Spinal Neural Tube Defects	171	(7)
Myeloceles, Myelemeningoceles and Spinal Meningoceles	171	(2)
Clinical Case 4.5 The Spectrum of Deranged Neurulation	173	(2)
Reinier Mullaart
Spinal Lipomas	175	(1)
Clinical Case 4.6 Spinal Lipomas	176	(1)
Reinier Mullaart
Spina Bifida Occulta and Related Disorders	177	(1)
The Chiari Malformations	178	(2)
Caudal Dysgenesis	180	(11)
Clinical Case 4.7 OEIS Complex	184	(1)
Pieter Wesseling
References	185	(6)
The Neural Crest and Craniofacial Malformations
Hans J. ten Donkelaar
Christl Vermeij-Keers
Introduction	191	(1)
Induction of the Neural Crest	192	(1)
Derivatives of the Neural Crest	193	(3)
The Cranial Neural Crest	193	(2)
The Trunk Neural Crest	195	(1)
Craniofacial Development	196	(8)
Early Development of the Face	196	(2)
Development of the Pharyngeal Arches	198	(1)
Further Development of the Face	199	(3)
Development of the Skull	202	(2)
Neurocristopathies	204	(5)
Retinoic Acid Syndrome	204	(1)
Oculoauriculo-vertebral Spectrum	205	(1)
Treacher Collins Syndrome	206	(1)
DiGeorge Sequence and Related Disorders	206	(3)
Waardenburg Syndrome	209	(1)
Holoprosencephaly	209	(4)
Clinical Case 5.1 Alobar Holoprosencephaly	214
Harm-Gerd Blaas
Abnormal Development of the Skull with CNS Manifestations	213	(16)
The Craniosynostoses	213	(5)
Clinical Case 5.2 Apert Syndrome	218	(1)
Pieter Wesseling
Clinical Case 5.3 Thanatophoric Dysplasia	219	(1)
Pieter Wesseling
Cranial Base Abnormalities	220	(1)
References	220	(9)
Development and Developmental Disorders of the Spinal Cord
Hans J. ten Donkelaar
Akira Hori
Introduction	229	(1)
Gross Development of the Spinal Cord	229	(4)
A Few Notes on the Development of the Vertebral Column	231	(1)
Ascensus Medullae	232	(1)
Developmental Events in Spinal Neuronal Populations	233	(1)
The Specification of Cell Fates in the Spinal Cord	234	(3)
Specification of Neuronal Fates in the Ventral Spinal Cord	235	(2)
Patterning Cell Types in the Dorsal Spinal Cord	237	(1)
Development of Dorsal Root Projections	237	(4)
Development of Spinal Ascending Projections	241	(1)
Development of Descending Projections to the Spinal Cord	242	(8)
Descending Projections from the Brain Stem	243	(2)
Development of the Pyramidal Tract in Rodents	245	(3)
Development of the Pyramidal Tract in Macaque Monkeys	248	(1)
Development of the Human Pyramidal Tract	249	(1)
Developmental Anomalies of the Spinal Cord	250	(19)
Anomalies of Histogenesis	250	(1)
Duplications of the Spinal Cord	251	(1)
Clinical Case 6.1 Diplomyelia	252	(1)
Akira Hori
Neurenteric Cysts	253	(1)
Clinical Case 6.2 A Spinal Intradural Enterogenous Cyst	254	(2)
Pieter Wesseling
Syringomyelia	256	(1)
Abnormal Course or Absence of Fibre Tracts	256	(4)
Clinical Case 6.3 Absence of the Pyramidal Tracts	260	(2)
Pieter Wesseling
References	262	(7)
Development and Developmental Disorders of the Brain Stem
Hans J. ten Donkelaar
Martin Lammens
Johannes R.M. Cruysberg
Cor W.J.R. Cremers
Introduction	269	(1)
Pattern Formation and Segmentation of the Brain Stem	270	(4)
Pattern Formation of the Brain Stem	270	(2)
Clinical Case 7.1 Agenesis of the Mesencephalon and Metencephalon with Cerebellar Hypoplasia	272
Harvey Sarnat
Segmentation of the Brain Stem	271	(3)
Development and Developmental Disorders of the Cranial Nerves	274	(12)
Development of the Cranial Nerves and Their Nuclei in Rodents	274	(3)
Development of Cranial Nerve Ganglia in Rodents	277	(1)
Developmental and Developmental Disorders of the Human Cranial Nerves	277	(2)
Congenital Cranial Dysinnervation Disorders	279	(4)
Clinical Case 7.2 Congenital Facial Palsy	283	(2)
Martin Lammens
Clinical Case 7.3 Mobius Syndrome	285	(1)
Pieter Wesseling
Martin Lammens
The Sudden Infant Death Syndrome	286	(1)
Development of the Auditory System	286	(23)
Development of the Ear	287	(4)
Development of the Auditory Projections	291	(2)
Developmental Disorders of the Auditory System	293	(1)
Genes Involved in Deafness	294	(4)
Clinical Case 7.4 Branchio-oto-renal Syndrome	298	(2)
Cor W.J.R. Cremers
Clinical Case 7.5 Usher Syndrome	300	(1)
Cor W.J.R. Cremers
References	301	(8)
Development and Developmental Disorders of the Human Cerebellum
Hans J. ten Donkelaar
Martin Lammens
Pieter Wesseling
Akira Hori
Introduction	309	(1)
Some Notes on the Anatomy of the Cerebellum	309	(3)
Subdivision	309	(1)
Compartmentalization	310	(1)
Major Fibre Connections	311	(1)
Precerebellar Nuclei	312	(1)
Morphogenesis of the Cerebellum	312	(2)
Four Basic Steps in the Histogenesis of the Cerebellum	314	(11)
Characterization of the Cerebellar Territory	314	(3)
Clinical Case 8.1 Rhombencephalosynapsis	317	(1)
Jennian Geddes
Formation of Two Proliferative Compartments	318	(1)
Inward Migration of Granule cells	319	(2)
Differentiation of Cerebellar Neurons	321	(3)
Clinical Case 8.2 Cerebello-cortical Heterotopia in the Dentate Nucleus	324	(1)
Akira Hori
Development of the Precerebellar Nuclei	325	(2)
Upper Precerebellar System	326	(1)
Lower Precerebellar System	326	(1)
Inferior Olivary Malformations	327	(1)
Mouse Mutants with Cerebellar Malformation	327	(2)
Developmental Disorders of the Cerebellum	329	(16)
Midline or Vermis Malformations	329	(4)
Clinical Case 8.3 Dandy--Walker Syndrome	333	(1)
Gerard van Noort
Clinical Case 8.4 Joubert Syndrome	334
Pieter Wesseling
Cerebellar Hypoplasia	332	(1)
Pontocerebellar Hypoplasias	332	(4)
Clinical Case 8.5 Pontocerebellar Hypoplasia	336	(1)
Martin Lammens
Cortical Dysplasias	337	(1)
Clinical Case 8.6 Dysplasia of the Cerebellum with Extreme Hydrocephalus	338	(1)
Martin Lammens
References	339	(6)
Development and Developmental Disorders of the Forebrain
Hans J. ten Donkelaar
Martin Lammens
Johannes R.M. Cruysberg
Akira Hori
Kohei Shiota
Berit Verbist
Introduction	345	(1)
Prosomeres and Pattern Formation of the Forebrain	346	(1)
Development of the Diencephalon	347	(15)
Development of the Thalamus	348	(6)
Development of the Hypothalamus	354	(2)
Development of the Pituitary Gland	356	(2)
Developmental Disorders of the Hypothalamus and the Pituitary Gland	358	(1)
Clinical Case 9.1 Duplication of the Pituitary Gland	359	(1)
Akira Hori
Clinical Case 9.2 Pharyngosellar Pituitary	360	(2)
Akira Hori
Development of the Visual System	362	(9)
Development of the Eye	362	(3)
Congenital Malformations of the Eye	365	(1)
Clinical Case 9.3 Aniridia	365	(1)
Hans Cruysberg
Clinical Case 9.4 Retinitis Pigmentosa with CNS Malformations	366	(4)
Hans Cruysberg
Development of the Visual Projections	370	(2)
Clinical Case 9.5 Isolated Absence of the Optic Chiasm	372
Nomdo M. Jansonius
Ton van der Vliet
Overview of the Development of the Telencephalon	371	(9)
Development of the Rhinencephalon	380	(4)
The Prosencephalies	384	(12)
Aprosencephaly	386
Clinical Case 9.6 Aprosencephaly	385	(1)
Gerard van Noort
Holoprosencephaly	386	(5)
Clinical Case 9.7 Middle Interhemispheric Variant of Holoprosencephaly	391	(3)
Martin Lammens
Septo-optic Dysplasia	394	(1)
Clinical Case 9.8 Septo-optic Dysplasia	395
Akira Hori
Isolated Arhinencephaly	394	(2)
Development and Developmental Disorders of the Basal Ganglia and the Amygdala	396	(33)
Development of the Basal Ganglia	396	(7)
Congenital and Acquired Disorders of the Basal Ganglia	403	(3)
Clinical Case 9.9 Familial Striatal Degeneration (Glutaric Aciduria Type 1)	406	(2)
Martin Lammens
Clinical Case 9.10 Leigh Syndrome	408	(2)
Martin Lammens
Development of the Amygdala	410	(1)
References	411	(18)
Development and Developmental Disorders of the Cerebral Cortex
Hans J. ten Donkelaar
Martin Lammens
Willy Renier
Ben Hamel
Akira Hori
Berit Verbist
Introduction	429	(1)
Overview of the Cerebral Cortex	429	(6)
The Neocortex	429	(3)
The Allocortex	432	(3)
Overview of Main Cortical Connections	435	(2)
Thalamocortical Projections	435	(1)
The Pyramidal Tract	436	(1)
The Corpus Callosum	437	(1)
Development of the Neocortex	437	(16)
Development of the Neocortex in Rodents	439	(7)
Development of the Human Neocortex	446	(2)
Clinical Case 10.1 Precocious Cerebral Development	448	(5)
Akira Hori
Development of the Hippocampal Formation	453	(4)
Development of the Main Cortical Connections	457	(6)
Development of Thalamocortical Projections	457	(1)
Development of the Pyramidal Tract	457	(1)
Development of the Corpus Callosum	457	(1)
Clinical Case 10.2 Temporal Lobe Dysgenesis	458	(5)
Akira Hori
Developmental Disorders of the Cerebral Cortex	463	(56)
Malformations due to Abnormal Neuronal/Glial Proliferation/Apoptosis	464	(2)
Clinical Case 10.3 Extreme Microcephaly	466	(2)
Pieter Wesseling
Clinical Case 10.4 Microlissencephaly	468	(2)
Martin Lammens
Clinical Case 10.5 Tuberous Sclerosis Complex	470	(2)
Gerard van Noort
Clinical Case 10.6 Hemimegalencephaly	472	(1)
Willy Renier
Malformations due to Abnormal Cortical Migration	473	(4)
Clinical Case 10.7 Bilateral Periventricular Nodular Heterotopia	477	(2)
Akiyoshi Kakita
Clinical Case 10.8 Miller--Dieker Syndrome	479	(1)
Martin Lammens
Clinical Case 10.9 Subcortical Band Heterotopia	480	(2)
Masashi Mizuguchi
Clinical Case 10.10 Lissencephaly with Cerebellar Hypoplasia	482	(2)
Hajime Miyata
Clinical Case 10.11 Walker--Warburg Syndrome	484	(2)
Gerard van Noort
Clinical Case 10.12 Fukuyama-Type Congenital Muscular Dystrophy	486	(2)
Mieko Yoshioka
Sachio Takashima
Malformations due to Abnormal Cortical Organization and Late Migration	488	(1)
Disorders of Cortical Development and Epilepsy	489	(1)
Clinical Case 10.13 Neuronal Migration Disorders and Epilepsy	490	(3)
Willy Renier
Clinical Case 10.14 Ammon's Horn Sclerosis	493
Martin Lammens
Vascular Disorders	492	(2)
Disorders of Cortical Connectivity	494	(2)
Clinical Case 10.15 Callosal Agenesis	496	(1)
Pieter Wesseling
Gerard van Noort
Mental Retardation	496	(4)
Clinical Case 10.16 Male Rett Syndrome	500	(1)
Jan Rotteveel
Neurobehavioural Disorders	501	(3)
References	504	(15)
Subject Index	519