Genetic Counseling for Adult Neurogenetic Disease A
Casebook for Clinicians
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Jill S. Goldman
Editor
Genetic Counseling for Adult
Neurogenetic Disease
A Casebook for Clinicians
Editor
Jill S. Goldman
Taub Institute
Columbia University Medical Center
New York, NY
USA
Videos to this book can be accessed at http://www.springerimages.com/videos/978-1-
4899-7481-5
ISBN 978-1-4899-7481-5 ISBN 978-1-4899-7482-2 (eBook)
DOI 10.1007/978-1-4899-7482-2
Springer New York Heidelberg Dordrecht London
Library of Congress Control Number: 2014952454
© Springer Science+Business Media New York 2015
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This book would never have been conceived
or written without the encouragement of my
husband, Lee Goldman. Not only is he a role
model for me, but the impetus and support for
my professional growth. I, therefore, dedicate
this book to Lee and to our children—Jeff,
Daniel, and Robyn and their spouses, Abbey
and Tobin, who also provided unending and
unconditional support while listening to me
complain.
.
Accompanying Video
The video clips that accompany this book feature aspects of genetic counseling for
several of the neurogenetic conditions discussed in the book. Please refer to these
video clips as appropriate. Dr. Sampson’s full neurological examination may be of
particular interest for genetic counselors who have not been exposed to neurology.
The video clips include both segments of actual genetic counseling sessions and
counseling simulations. The clips intend to show some of the unique aspects of
counseling for these diseases. We cover diagnostic genetic testing, presymptomatic
testing, return of results, impact of testing on family members, genetic research
studies, reproductive counseling, and treatment and management. Additionally, a
video clip demonstrates the neurological examination. Because of limited access to
patients, we could not film every disease discussed in this book.
Participants in the video:
Jill S. Goldman, M.S., M.Phil., C.G.C.
Jacinda B. Sampson, M.D., Ph.D.
Ashley L. Wilson, M.S., C.G.C.
Megan Truitt Cho, Sc.M., C.G.C.
Sarah E. Teed
Kara Ansett
Gracious patients
vii
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Preface
Adult neurogenetic disease is a rapidly expanding specialty. Few genetic counsel-
ing training programs are able to provide the clinical experience necessary to
understand the intricacies of counseling for these diverse diseases. Likewise few
neurology training programs provide experience in genetic counseling. The goal of
this book is to introduce genetic counselors, neurologists, and other health pro-
fessionals providing counseling for patients with neurogenetic disease to some of
the issues that transpire during counseling sessions for these diseases. We have
chosen to focus on adult conditions because genetic counseling students have much
more exposure to pediatric disease and because these conditions raise very different
problems. Although we provide an overview of each condition’s symptoms, diag-
nosis, management, and genetics, our focus is on the counseling. In part, this is
because the field is changing so rapidly that genetic information needs continual
updating (and therefore, sources such as GeneReviews and PubMed should be
consulted regularly when seeing these patients) and, in part, because there is a
lack of resources about genetic counseling for these diseases. Chapter 25 provides
readers with descriptions of the neurological examination and neuropsychological
evaluation. Please refer to them as you make your way through the chapters.
The book is divided by subspecialty areas. We do not attempt to cover every
disease in each area, but rather include those diseases that are more common and
have their own particular counseling complexities. Nevertheless, although these
diseases have unique issues, many aspects of the counseling discussions can apply
to all adult neurogenetic disease as well as to other non-neurological genetic
diseases. The accompanying video clips are intended to highlight some of the
unique features of these diseases, including symptoms and counseling issues.
The case histories have been altered to protect confidentiality. However, they
represent experiences that the authors have found to be compelling and challenging.
We hope that they will evoke discussion and provide the reader with an insight into
adult neurogenetics.
Even as this book was being written, available genetic testing technologies have
changed and new genes have been discovered. The genes discussed in this book,
thus, represent the more common genetic etiologies known through 2013. Most
ix
x Preface
chapters concentrate on testing for specific genes, yet as large next-generation
sequencing panels (NGS) and whole exome testing (WES) become less expensive,
testing methodologies may shift. Keep in mind, however, that bigger is not neces-
sarily better. Single gene testing or small disease-specific panels may be more
appropriate with a definitive diagnosis or narrow differential diagnosis. Multiple
variants of unknown significance or incidental findings are common with NGS and
WES, thus confounding rather than clarifying diagnosis. Ordering physicians and
genetic counselors need to understand which genes are meaningful to explore
and need to prepare their patients for possible findings. We hope that this book
can contribute to that process.
New York, USA Jill S. Goldman
Acknowledgements
I must thank Dr. Bruce Miller for trusting that I could do neurogenetic counseling
and for teaching me most everything I know about neurology and Dr. Richard
Mayeux and Dr. Michael Shelanski for supporting my desire to broaden my career.
I wish to acknowledge all my authors for their excellent work and for tolerating
my nudging! For their help in editing, thanks go to Yael Kacie Munishor and to
Nina Harkavay, both multitalented aspiring genetic counselors who were incredibly
generous with their time.
This book and accompanying video clips would not exist without the remarkable
efforts of these coauthors and video contributors. Special thanks go to Dr. Jacinda
Sampson for her many contributions to the written document and to the videos.
She was truly a savior! For their generous contributions to producing the video clips,
special thanks go to my talented videographer, Devin Pinckard, and to the NYC
Chapter of the Alzheimer’s Association, the Association for Frontotemporal
Degeneration, the Parkinson’s Disease Foundation, the Children’s Tumor Founda-
tion, and to Daniel Goldman. And finally, I offer great appreciation to those patients
and families who consented to be filmed.
xi
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Contents
Part I The Movement Disorders
1 Overview of Movement Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . 3
Matt Bower and Paul Tuite
2 Huntington Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9
Matt Bower and Paul Tuite
3 Parkinson Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 27
Matt Bower and Paul Tuite
4 Dystonia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41
Jeff L. Waugh and Trisha Multhapt-Buell
5 Ataxia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 71
Alison La Pean Kirschner and Jill S. Goldman
Part II The Dementias
6 Overview of the Dementias . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 93
Jill S. Goldman
7 Alzheimer Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 97
Jill S. Goldman
8 Frontotemporal Degeneration . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 109
Jill S. Goldman
9 Prion Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 121
Jill S. Goldman
xiii
xiv Contents
Part III Stroke
10 Overview of Cerebrovascular Disease and Stroke Risk Factors . . . 133
Heather Workman
11 CADASIL . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 143
Jamie C. Fong
Part IV The Motor Neuron Diseases
12 Overview of Motor Neuron Diseases . . . . . . . . . . . . . . . . . . . . . . . . 159
Alice B. Schindler
13 Amyotrophic Lateral Sclerosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . 163
Elisabeth McCarty Wood
14 Spinal Bulbar Muscular Atrophy: Kennedy Disease . . . . . . . . . . . . 183
Alison La Pean Kirschner
15 Hereditary Spastic Paraplegia . . . . . . . . . . . . . . . . . . . . . . . . . . . . 195
Alice B. Schindler
Part V The Neuropathies and Channelopathies
16 Charcot Marie Tooth . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 211
Carly E. Siskind
17 Channelopathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 221
Carly E. Siskind
Part VI The Adult Muscular Dystrophies
18 Overview of Adult Muscular Dystrophies . . . . . . . . . . . . . . . . . . . . 233
Joline Dalton and Jacinda B. Sampson
19 The Myopathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 239
Joline Dalton, Jill S. Goldman, and Jacinda B. Sampson
20 The Muscular Dystrophies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 251
Joline Dalton, Jill S. Goldman, and Jacinda B. Sampson
21 The Myotonic Dystrophies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 263
Joline Dalton, Jill S. Goldman, and Jacinda B. Sampson
Part VII Neurocutaneous Syndromes
22 Overview of Neurocutaneous Syndromes . . . . . . . . . . . . . . . . . . . . 273
Amanda Bergner
23 Neurofibromatosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 279
Amanda Bergner
Contents xv
24 Tuberous Sclerosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 289
Amanda Bergner
Part VIII The Clinical Evaluation
25 The Neurological Examination and Testing . . . . . . . . . . . . . . . . . . 301
Jacinda B. Sampson
26 The Neuropsychological Evaluation . . . . . . . . . . . . . . . . . . . . . . . . 313
Elise Caccappolo
Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 323
