Callosal Agenesis: A Natural Split Brain?

303 Pages·1994·20.285 MB·English

by  Krystyna E. Wisniewski, Joseph S. Jeret (auth.), Maryse Lassonde, Malcolm A. Jeeves (eds.)

CALLOSAL AGENESIS
A Natural Split Brain?
ADVANCES IN BEHAVIORAL BIOLOGY
Editorial Board
Jan Bures Institute of Physiology, Prague, Czech Republic
Irwin Kopin National Institute of Mental Health, Bethesda, Maryland
Bruce McEwen Rockefeller University, New York, New York
James McGaugh University of California, Irvine, California
Karl Pribram Stanford University School of Medicine, Stanford, California
Jay Rosenblatt Rutgers University, Newark, New Jersey
Lawrence Weiskrantz University of Oxford, Oxford, England
Recent Volumes in This Series
Volume 31 TOBACCO SMOKING AND NICOTINE: A Neurobiological Approach
Edited by William R. Martin, Glen R. Van Loon, Edgar T. Iwamoto, and Lay ten Davis
Volume 32 THE BASAL GANGLIA II: Structure and Function-Current Concepts
Edited by Malcolm B. Carpenter and A. Jayaraman
Volume 33 LECITHIN: Technological, Biological, and Therapeutic Aspects
Edited by Israel Hanin and G. Brian Ansell
Volume 34 ALTERATIONS IN THE NEURONAL CYTOSKELETIN IN ALZHEIMER'S DISEASE
Edited by George P. Perry
Volume 35 MECHANISMS OF CEREBRAL HYPOXIA AND STROKE
Edited by George Somjen
Volume 36 NOVEL APPROACHES TO THE TREATMENT OF ALZHEIMER'S DISEASE
Edited by Edwin M. Meyer, James W. Simpkins, and Jyunji Yamamoto
Volume 37 KINDLING 4
Edited by Juhn A. Wada
Volume 38A BASIC, CLINICAL AND THERAPEUTIC ASPECTS OF ALZHEIMER'S AND
PARKINSON'S DISEASES
Volume 1
Edited by Toshiharu Nagatsu, Abraham Fisher, and Mitsuo Yoshida
Volume 38B BASIC, CLINICAL AND THERAPEUTIC ASPECTS OF ALZHEIMER'S AND
PARKINSON'S DISEASES
Volume 2
Edited by Toshiharu Nagatsu, Abraham Fisher, and Mitsuo Yoshida
Volume 39 THE BASAL GANGLIA III
Edited by Giorgio Bernardi, Malcolm B. Carpenter, Gaetano Di Chiara, Micaela
Morelli, and Paolo Stanzione
Volume 40 TREATMENT OF DEMENTIAS: A New Generation of Progress
Edited by Edwin M. Meyer, James W. Simpkins, Jyunji Yamamoto, and
Fulton T. Crews
Volume 41 THE BASAL GANGILA IV: New Ideas and Data on Structure and Function
Edited by Gerard Percheron, John S. McKenzie, and Jean Feger
Volume 42 CALLOSAL AGENESIS: A Natural Split Brain?
Edited by Maryse Lassonde and Malcolm A. Jeeves
A Continuation Order Plan is available for this series. A continuation order will bring delivery of each new volume
immediately upon publication. Volumes are billed only upon actual shipment. For further information please contact
the publisher.
CALLOSAL
AGENESIS
A Natural Split Brain?
Edited by
Maryse Lassonde
Universite de Montreal
Montreal, Quebec, Canada
and
Malcolm A. Jeeves
st.
University of Andrews
St. Andrews, Scotland, United Kingdom
PLENUM PRESS. NEW YORK AND LONDON
LIbrary of Congress Cataloglng-In-Publtca~lon Data
Callosal agenesIs, a natural splIt bratn? I edited by Maryse L.assonde
and Malcolm A. ~ ••v ••.
p. em. -- (Advances In behaVIoral biology; v. 42)
"Proceedings of an International BraIn Research OrganIZatIon
saUlllte symposium. held August 10-13.1991, In Quebec CIty.
Ouebec, Canada"T.p. verso.
Includes bIblIographIcal references and Index.
ISBN·13:978·1·4612·7592·3 e·ISBN·13:978·1·4613·0487·6
DOl: 10.1007/978·1·4613·0487·6
1. Corpus cal1osum--Abnormalit1es--Congresses. 2. Spl1t bra1n
-Congresses. I. L.assonde. Maryse. II. JeevlS. Malcolm A., [DATE)
III. International BraIn Research OrganIzatIon. IV. SerIes.
[ONL.M: I. Corpus Callosum--abormalltles--congresses. 2. Corpus
Callosum--physlopathology--congresses. W3 AD215 v.42 1993 I Wl307
CI63 1993)
RC395.C35 1993
612.8'25--dc20
ONlMI DL.C
for LIbrary of Congress 93-46518
CIP
Proceedings of an International Brain Research Organization Satellite Symposium, held August
10-13, 1991, in Quebec City, Quebec, Canada
ISBN-13 :978-1-4612-7592-3
©1994 Plenum Press, New York
Softcover reprint of the hardcover 1st edition 1994
A Division of Plenum Publishing Corporation
233 Spring Street, New York, N.Y. 10013
All rights reserved
No part of this book may be reproduced, stored in a retrieval system, or transmitted in any form
or by any means, electronic, mechanical, photocopying, microfilming, recording, or otherwise,
without written permission from the Publisher
PREFACE
This book is devoted to the description of agenesis of the corpus callosum, a
congenital malformation of midline structures in the brain that may be regarded as a
natural model of the "split-brain." First reported by Rei! in 1812, this anomaly has since
been described by several investigators. Interest in this malformation was revived in
the 1970s by studies of interhemispheric transfer in Bogen and Vogel's
commissurotomized patients and the subsequent findings by Sperry that acallosal
patients were devoid of the typical disconnection deficits found in patients with surgical
transection of the corpus callosum. Since this seminal work, the bulk of
neuropsychological research on callosal agenesis has focused on the particulars of
interhemispheric transfer and integration. An ever-growing literature has emerged on
the subject, attempting to specify the extent and limits of neural plasticity in a nervous
system that has evolved in the absence of the most important interhemispheric
pathway.
Whilst callosal agenesis proves to be an excellent model of cerebral plasticity, it has
to be pointed out that this anomaly is often associated with other malformations and
neurological diseases that may result in different degrees of mental retardation or other
cognitive and sensorimotor deficits. In this context, neurological research on callosal
agenesis has concentrated on the description of various syndromes associated with this
pathology as well as on the attempt to specify its neurobehavioral manifestations.
However, it is important to identify the pattern of functioning specific to callosal
agenesis in the absence of gross concomitant pathology of the central nervous system
in order to assess the real consequences of this condition.
As for the distribution of this malformation, callosal agenesis is far from being an
isolated phenomenon. It has been described throughout the world but its frequency may
vary from one country to another. With the advent of new neuroradiological techniques,
including prenatal sonographic examination, an increasing number of cases is being
reported. Yet, there are no recent accounts of the clinical and neurobehavioral aspects
of this malformation. The purpose of this book is to provide a complete up-to-date
analysis of this pathology, including description of the medical (diagnosis, etiology and
clinical manifestations), anatomical (based on animal models) and behavioral
(sensorimotor and cognitive analysis) components of callosal agenesis.
Part I deals with the medical description of the syndrome. It includes a presentation
of the various neurological syndromes that are frequently associated with callosal
agenesis as well as a description of the clinical, pathological and genetic features of
each syndrome. This section is followed by a complete account of the neuroradiological
characteristics of this pathology. Thus, prenatal and postnatal neuroradiagnostic
procedures that permit early detection of this cerebral malformation are reported along
with the description of computed tomography and magnetic resonance imaging
techniques. Part I also includes the analysis of sleep patterns found in infant and adult
acallosal p~tients.
Part II presents animal models of brain organization and development in callosal
agenesis together with their implications for human studies. Part III follows with a
v
detailed assessment of basic sensory and sensorimotor skills as well as cognitive
functioning of acallosal patients. From this section, it appears that earlier work may
have overemphasized the apparent lack of a disconnection syndrome in callosal
agenesis. Disconnection signs similar to those found in split-brain patients are now
being reported and specific cognitive and sensorimotor deficits and, to some extent,
psychiatric features are also being identified as characteristic of callosal agenesis. A
final review chapter draws out the theoretical implications of the empirical work
reported, focusing especially on the evidence for a diversity of functions for the forebrain
commissures in normal cognition and behavior.
In editing this book, our intention was to address a multidisciplinary readership.
Various professionals dealing with callosal agenesis patients, be it for diagnosis,
clinical manifestations and rehabilitation, will benefit from the presentation of different
aspects of the syndromes described in this book. Experimental and cognitive
neuropsychologists are also provided with valuable information regarding cerebral
reorganization following early brain damage.
As with other works of this type, a number of people and organizations were
involved in its realization. The book was based upon an International Brain Research
Organization (IBRO) satellite symposium held in Quebec City in August 1991. The
symposium was made possible by funding from the Medical Research Council of
Canada, Le Fonds de la Recherche en Sante du Quebec, Merk Frosst Canada, the
Departement de Psychologie, the FacuIte des Arts et Sciences and the Vice-Rectorat it
l'Enseignement et it laRecherche de l'Universite de Montreal. We wish to thank Drs
Frederick Andermann, M.D., Pradeep G. Bhide, Ph.D., Richard Desbiens, M.D.,
Augustin M. O'Gorman, M.D. and Hannelore C. Sauerwein, Ph.D., for their helpful
comments on various chapters. Our thanks also go to Ms. Diane Poulin and Ms.
Debbie Kavanagh, E.P.M., for their secretarial and technical help, Ms. Lauren S. Ptito,
B.A. for her revision of the texts, and finally to Ms. Alessandra Schiavetto, M.Sc., and
especially Dr. Hannelore C. Sauerwein, Ph.D., for the many hours they spent in helping
editing and formatting this book.
Maryse Lassonde and
Malcolm A. Jeeves
vi
CONTENTS
PART I: NEUROCLINICAL FINDINGS
A. Clinical Description and Related Disorders
Callosal Agenesis: Review of Clinical, Pathological and Cytogenetic
Features ..............................................................•................... 1
K.E. Wisniewski and J.S. Jeret
The Aicardi Syndrome.......................................................................... 7
J. Aicardi and J.J. Chevrie
The Andermann Syndrome
The Andermann Syndrome: Agenesis of the Corpus Callosum and
Sensorimotor Neuropathy .................................................... 19
F. Andermann and E. Andermann
The Pathology of the Andermann Syndrome ....................................... 27
S. Carpenter
Genetic Studies of the Andermann Syndrome ...................................... 31
E. Andermann, F. Andermann, R. Nagy, D. Bergeron, J. Mathieu,
and P. Langevin
A New Syndrome: Familial Fronto-Nasal Dermoid Cysts with Agenesis
of the Corpus Callosum ............................................................... 39
I. Jacobson and M.A. Jeeves
Other Syndromes Frequently Associated with Callosal Agenesis ......................... 55
G. Geoffroy
B. Neurorndiological Characteristics
Antenatal Sonographic Findings of Agenesis of the Corpus Callosum ................... 63
P. Vergani and N. Strobelt
Callosal Agenesis: Postnatal Sonographic Findings ........................................ 69
G. Cioni, L. Bartalena, E. Biagioni, and A. Boldrini
CT Findings in Callosal Agenesis.................... .......................... ........... ..... 77
D. Melanson, A. Salazar, and R. del Carpio-O'Donovan
Magnetic Resonance Imaging of Corpus Callosum Dysgenesis ........................... 83
R.A. Rauch and J.R. Jinkins
C. Sleep Patterns
Coherence Patterns of Infant Sleep EEG in the Absence of the Corpus
Callosum ................................................................................ 97
J.B.M. Kuks and J.E. Vos
Sleep, Dreaming and EEG Coherence Patterns in Agenesis of the Corpus
Callosum: Comparisons with Callosotomy Patients ............................... 109
T.A. Nielsen, J. Montplaisir, R. Marcotte, and M. Lassonde
PART II: ANIMAL MODELS
Aspects of Dendritic Maturation of Callosally Projecting Neurons ...................... 119
G.M. Innocenti
Defects of the Fetal Forebrain in Acallosal Mice .... ........ ........ .......... ........ ....... 125
D. Wahlsten and H.S. Ozaki
Pattern of Interhemispheric Connections in Mice with Congenital
Deficiencies of the Corpus Callosum.. . . ....... .............. ........... ... . . ....... . 135
J. Olavarria, M.M. Serra-Oller, K.T. Vee, and R.C. Van Sluyters
Three Different Animal Models of Early Callosal Defects: Morphological
and Behavioral Studies ............. ......... ....... ............... ............... ..... 147
S.L. Schmidt
PART III: NEUROPSYCHOLOGICAL DESCRIPTION
A. Sensory and Sensorimotor Functions
Midline Sensory Integration in Callosal Agenesis............................................ 155
F. Lepore, M. Lassonde, P. Poirier, A. Schiavetto, and N. Veillette
Visual Integration in Callosal Agenesis ....................................................... 171
A.D. Milner
The Development of Interhemispheric Transfer of Tactile Information in
Cases of Callosal Agenesis .............. .. . . .. .. .. .. .. . .. . .. . . . . . . . .. . . .. . . . . . .. . . . . . . 185
G.M. Geffen, J. Nilsson, D.A. Simpson, and M.A. Jeeves
Short-and Middle-Latency Somatosensory Evoked Potentials in Callosal
Agenesis ................................................................................. 199
M. Vanasse, L. Forest, and M. Lassonde
Motor Coordination in Callosal Agenesis. . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . 207
P.H. Silver and M.A. Jeeves
B. Cognitive Functions
Cognitive Functioning in Callosal Agenesis.................................................. 221
H.C. Sauerwein, P. Nolin, and M. Lassonde
The Behavioral and Developmental Consequences of Callosal Agenesis
and Aicardi Syndrome ................. ...................•......................... . . 235
G. O'Brien
Auditory Verbal Learning and Memory in Cases of Callosal Agenesis................... 247
G.M. Geffen, G.M. Forrester, D.L. Jones, and D.A. Simpson
Sounds and Shapes: Language and Spatial Cognition in Callosal Agenesis ............. 261
C.M. Temple and J. Ilsley
Disconnection Syndrome in Callosal Agenesis ......................... ...... ..... .... ...... 275
M. Lassonde
PART IV
Callosal Agenesis -A N atural Split-Brain: Overview ....................................... 285
M.A. Jeeves
Contributors ...................................................................................... 301
Index .............................................................................................. 305
CALLOSAL AGENESIS: REVIEW OF CLINICAL,
PATHOLOGICAL, AND CYTOGENETIC FEATURES
Krystyna E. Wisniewski and Joseph S. Jeret
Institute for Basic Research in Developmental
Disabilities, 1050 Forest Hill Road, Staten Island
New York, 10314-6399, U.S.A.
INTRODUCTION
Agenesis of the corpus callosum (ACC) was first described at autopsy in 1812,(Reil,
1812). The antemortem diagnosis by pneumoencephalography has been made since 1934
(Davidoff and Dyke, 1934). Subsequently, agenesis of the corpus callosum has been
identified by computerized tomography (Larsen et aI., 1982), magnetic resonance imaging
(Davidson et aI., 1985; Han et aI., 1985), ultrasonography (Hemanz-Schulman et aI.,
1985), and even prenatal fetal ultrasonography (Sandri et aI., 1988; Hilpert and Kurtz,
1990).
ACC has been the subject of many case literature reports. Our review article
(encompassing 705 cases) was published several years ago. More than 50 different
disorders have been reported to be associated with ACC. When clinically symptomatic,
neuropathological changes may be demonstrable in the cortical mantle. The reader is
referred to our paper for further study and an exhaustive bibliography (Jeret et al., 1987).
We will stress some of the more recent reports on this topic and focus on the
clinicopathological heterogeneity in both the presentation and etiology of callosal
agenesis.
CLINICAL MANIFEST A TIONS
Agenesis of the corpus callosum is not an entity unto itself. ACC may be clinically
asymptomatic and occur as an isolated malformation discovered at autopsy or by
neuroimaging. More often, it is associated with other developmental abnormalities,
both within the central nervous system and other organ systems. Subtle, nonspecific
neuropsychological, cognitive, or electrophysiological abnormalities may be
demonstrated, even in cases where no gross abnormalities are evident and where
neuroimaging and autopsy disclose no other findings besides callosal agenesis.
Symptomatic acallosal patients may manifest mental retardation, seizures, motor or
cerebellar impairment (e.g. hypotonia, spasticity), or ocular abnormalities. These
findings are usually nonspecific and occur in association with numerous other defects in
Callosal Agenesis, Edited by M. Lassonde and
M.A. Jeeves, Plenum Press, New York, 1994