rss
J Med Genet 2004;41:937-940 doi:10.1136/jmg.2004.024455
  • Short report

Parkinsonism among Gaucher disease carriers

  1. O Goker-Alpan1,2,
  2. R Schiffmann3,
  3. M E LaMarca1,2,
  4. R L Nussbaum4,
  5. A McInerney-Leo4,
  6. E Sidransky1,2
  1. 1Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA
  2. 2Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
  3. 3Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
  4. 4Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
  1. Correspondence to:
 Dr Ellen Sidransky
 Section on Molecular Neurogenetics, 35 Convent Drive MSC 3708, 35/1A213, Bethesda, MD 20892–3708, USA; sidranseirp.nimh.nih.gov
  • Accepted 12 July 2004
  • Revised 8 July 2004

Abstract

An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed carriers of glucocerebrosidase mutations developed parkinsonism. These observations indicate that mutant glucocerebrosidase, even in heterozygotes, may be a risk factor for the development of parkinsonism. Understanding the relationship between altered glucocerebrosidase and the development of parkinsonian manifestations will provide insights into the genetics, pathogenesis, and treatment of Parkinson disease.

Footnotes

  • Conflict of interest: none declared.

This Article

  1. Abstract
  2. Full text
  3. PDF

Responses

  1. Submit a response
  2. No responses published

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.