Chapter 126. Genetics in Neurology

  1. Robert P. Lisak MD, FAAN, FRCP Parker Webber Chair Professor Chair Neurologist-in-Chief Chief2,3,
  2. Daniel D. Truong MD, FAAN Head4,
  3. William M. Carroll MBBS, MD, FRACP, FRCP(E) Head5 and
  4. Roongroj Bhidayasiri MD, FRCP Director6,7
  1. Karen P. Frei MD

Published Online: 18 MAY 2010

DOI: 10.1002/9781444317008.ch126

International Neurology: A Clinical Approach

International Neurology: A Clinical Approach

How to Cite

Frei, K. P. (2009) Genetics in Neurology, in International Neurology: A Clinical Approach (eds R. P. Lisak, D. D. Truong, W. M. Carroll and R. Bhidayasiri), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444317008.ch126

Editor Information

  1. 2

    Wayne State University School of Medicine, Detroit, MI, USA

  2. 3

    Detroit Medical Center, Harper University Hospital, Detroit, MI, USA

  3. 4

    The Parkinson and Movement Disorder Institute, Memorial Neuroscience Institute, Orange Coast Memorial Medical Center, Fountain Valley, CA, USA

  4. 5

    Sir Charles Gairdner Hospital, Nedlands, Perth, Australia

  5. 6

    Chulalongkorn Comprehensive Movement Disorders Center, Chulalongkorn University Hospital, Bangkok, Thailand

  6. 7

    University of California at Los Angeles, School of Medicine, Los Angeles, CA, USA

Author Information

  1. The Parkinson and Movement Disorder Institute, Fountain Valley, USA

Publication History

  1. Published Online: 18 MAY 2010
  2. Published Print: 11 SEP 2009

ISBN Information

Print ISBN: 9781405157384

Online ISBN: 9781444317008

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Keywords:

  • genetics in neurology;
  • inherited traits - Gregor Mendel describing heritability of traits in pea plants;
  • Mendelian genetics;
  • autosomal dominant inheritance;
  • autosomal recessive inheritance;
  • Rett's syndrome, example of X-linked dominant inheritance pattern;
  • dystonia, Oppenheimer's dystonia (DYT1) - inherited in autosomal dominant pattern with reduced penetrance and variable expressivity;
  • mitochondrial disorders;
  • neurocutaneous disorders - phakomatoses disorders involving skin and brain;
  • inherited susceptibility to cerebellar and spinal cord hemangioblastomas - in Von Hippel–Lindau disease (VHL)

Summary

This chapter contains sections titled:

  • Introduction

  • The basics

  • Mendelian genetics

  • Reduced penetrance

  • Variable expressivity

  • Trinucleotide repeats

  • Genomic imprinting

  • Mitochondrial disorders

  • Neurocutaneous disorders

  • Neurofibromatosis

  • Von Hippel–Lindau disease

  • Tuberous sclerosis

  • Sturge–Weber syndrome

  • Xeroderma pigmentosum

  • Incontinentia pigmenti

  • Further reading