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Parkinsonism among Gaucher disease carriers
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  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

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.

  • Gaucher disease
  • heterozygotes
  • parkinsonism
  • pedigrees
  • risk factor
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Footnotes

  • Conflict of interest: none declared.

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