Send to

Choose Destination
See comment in PubMed Commons below
Wien Med Wochenschr. 2010 Dec;160(23-24):605-8. doi: 10.1007/s10354-010-0850-x.

Neuropathic Gaucher disease.

Author information

Departments of Neurology and Pediatrics, New York University School of Medicine, New York, USA.


Gaucher disease (GD) has been conventionally demarcated into clinical variants, based on the presence or absence of primary central nervous system (CNS) involvement. In cases with primary CNS involvement (types 2 and 3 GD), distinctions have been made on the basis of severity and rate of disease progression. Although the type 1 GD variant had been designated non-neuropathic, recent studies have revealed that affected individuals have an increased risk of developing peripheral neuropathy and parkinsonian features. There is a need for greater understanding of the neurologic features of GD, as these aspects of the phenotype are the most recalcitrant to current therapy. Significant advances in therapy have been achieved, primarily through enzyme replacement, for the systemic, extra-neurologic features among patients with types 1 and 3 GD. Improved understanding of the pathophysiologic basis of neurologic involvement may enable development of therapies that may have a positive influence on neurologic outcome.

[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Springer
    Loading ...
    Support Center