Chapter 157. Storage Disorders

  1. Robert P. Lisak MD, FAAN, FRCP Parker Webber Chair Professor Chair Neurologist-in-Chief Chief3,4,
  2. Daniel D. Truong MD, FAAN Head5,
  3. William M. Carroll MBBS, MD, FRACP, FRCP(E) Head6 and
  4. Roongroj Bhidayasiri MD, FRCP Director7,8
  1. Jeffrey Ekstrand MD, PhD Assistant Professor1 and
  2. Raman Sankar MD, PhD Professor Chief Chair2

Published Online: 18 MAY 2010

DOI: 10.1002/9781444317008.ch157

International Neurology: A Clinical Approach

International Neurology: A Clinical Approach

How to Cite

Ekstrand, J. and Sankar, R. (2009) Storage Disorders, 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.ch157

Editor Information

  1. 3

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

  2. 4

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

  3. 5

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

  4. 6

    Sir Charles Gairdner Hospital, Nedlands, Perth, Australia

  5. 7

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

  6. 8

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

Author Information

  1. 1

    Pediatrics and Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA

  2. 2

    Pediatric Neurology, Rubin Brown Distinguished, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA

Publication History

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

ISBN Information

Print ISBN: 9781405157384

Online ISBN: 9781444317008



  • storage disorders;
  • neuronal ceroid lipofuscinosis (NCL);
  • infantile form (Santavouri–Haltia disease or CLN1);
  • Tay–Sachs disease, most common of gangliosidoses - resulting from enzyme defect in alpha subunit of beta-hexosaminidase A;
  • primary late infantile form - called Jansky–Bielschowsky disease or CLN2;
  • gangliosidoses, disorders characterized by impaired breakdown of plasma membrane lipid marcromolecules;
  • adult form, also called Kufs' disease or CLN4;
  • sphingomyelinoses, disorders associated with sphingomyelin accumulation;
  • Gaucher's disease, most prevalent lipid storage disorder;
  • Type III Gaucher's disease, the subacute neuronopathic form


This chapter contains sections titled:

  • Introduction

  • Lipidoses

  • Mucopolysaccharidosis

  • Glycogenoses

  • Leukodystrophies

  • Other lipidoses

  • Further reading