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© 2015

Genetic Counseling for Adult Neurogenetic Disease

A Casebook for Clinicians

  • Jill S. Goldman
Book

Table of contents

  1. Front Matter
    Pages i-xix
  2. The Movement Disorders

    1. Front Matter
      Pages 1-1
    2. Matt Bower, Paul Tuite
      Pages 3-8
    3. Matt Bower, Paul Tuite
      Pages 9-25
    4. Matt Bower, Paul Tuite
      Pages 27-40
    5. Jeff L. Waugh, Trisha Multhapt-Buell
      Pages 41-70
    6. Alison La Pean Kirschner, Jill S. Goldman
      Pages 71-90
  3. The Dementias

    1. Front Matter
      Pages 91-91
    2. Jill S. Goldman
      Pages 93-96
    3. Jill S. Goldman
      Pages 97-107
    4. Jill S. Goldman
      Pages 109-119
    5. Jill S. Goldman
      Pages 121-129
  4. Stroke

    1. Front Matter
      Pages 131-131
    2. Jamie C. Fong
      Pages 143-156
  5. The Motor Neuron Diseases

    1. Front Matter
      Pages 157-157
    2. Alice B. Schindler
      Pages 159-161
    3. Elisabeth McCarty Wood
      Pages 163-182
    4. Alison La Pean Kirschner
      Pages 183-193
    5. Alice B. Schindler
      Pages 195-207

About this book

Introduction

Will I end up just like my parent?

Will the children get it too?

Why is this happening to me?

The adult patient diagnosed with or at risk for a neurogenetic disease has many questions and concerns for the genetic counselor, the neurologist, and other practitioners.  Because of  the emotional and potentially life-altering impact of these diseases on the patient and family, counseling can be especially challenging.

A rare hands-on guide to the subject, Genetic Counseling for Adult Neurogenetic Disease deals with core issues that differentiate adult neurogenetic counseling from its more familiar pediatric counterpart. This innovative book with accompanying videos is designed to fill in deficits in this area typical of training programs in genetic counseling (which have pediatrics and prenatal concentrations) and neurology (which rarely cover genetic counseling). For each condition featured, chapters include a detailed overview of genetic symptoms, diagnostic criteria, and management, plus guidelines for asking, and answering, pertinent questions. The major concentration, however, is on genetic counseling issues and case histories illustrating these issues. As an added dimension, the accompanying  videos depict representative issues and challenges in genetic counseling for specific diseases in addition to the basics of a neurological examination. Among the conditions discussed:  

  • Movement disorders, including Parkinson's disease.
  • Dementias, including Alzheimer's disease.
  • Stroke.
  • Motor neuron diseases.
  • Neuropathies and channelopathies.
  • Adult muscular dystrophies.
  • Neurocutaneous syndromes.
  • Plus a section on neurological and neuropsychological evaluation.

This is information that will stay relevant as technologies change and genetic understanding evolves. Genetic Counseling for Adult Neurogenetic Disease offers advanced clinical wisdom for genetic counselors as well as neurologists, neuropsychologists, and other referring clinicians.

 

Keywords

Creutzfeld-Jacob disease adult neurogenetic disease family genetic counseling genetic counseling for neurogenetic cases inherited diseases progressive supranuclear palsy

Editors and affiliations

  • Jill S. Goldman
    • 1
  1. 1.Taub InstituteColumbia University Medical CenterNew YorkUSA

About the editors

Jill Goldman has been a neurogenetic counselor for 12 years at UCSF and Columbia University. She has first authored many papers including the 2011 “Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors” published in Genetics in Medicine. Jill is Chairperson of the Education Committee of the Medical Advisory Committee of the Association for Frontotemporal Degeneration. She has extensive experience in educating health professionals on neurogenetic diseases including teaching genetic counseling students, genetic counselors, genetics residents and fellows, nursing students, medical trainees, and the lay public. She has organized a NYC Frontotemporal Dementia Caregiver Conference and a Columbia University CME course for psychiatrists and neurologists on Alzheimer’s disease and Frontotemporal Degeneration. Jill was co-chair of a 2001 NSGC Annual Educational Conference workshop on neurogenetics and the 2004 Short Course on Neurogenetics. She has supervised both prospective and active genetic counseling students. Jill has also been a co-chair for the NSGC Neurogenetics SIG and a member of the Ethics Committee and Abstracts Committee. In addition to being Project Director, she will be responsible for sections on dementia and movement disorders.

Bibliographic information

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