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Gaucher disease and comorbidities : B-cell malignancy and parkinsonism

Cox, Timothy M; Rosenbloom, Barry E and Barker, Roger A LU (2015) In American Journal of Hematology 90(Suppl 1). p.8-25
Abstract

Data emerging from the International Collaborative Gaucher Group (ICGG) Gaucher Registry together with other contemporary clinical surveys have revealed a close association between Gaucher disease and non-Hodgkin's B-cell lymphoma and myeloma and Gaucher disease and Parkinson's disease. Several possible explanations for increased B-cell proliferation and neoplasia in Gaucher disease have been proposed, including the possible influence of sphingosine (derived from the extra lysosomal metabolism of glucosylceramide), gene modifiers, splenectomy and immune system deregulation induced by cytokines, chemokines, and hydrolases released from Gaucher cells. Parkinson's disease is frequently seen in the otherwise-healthy relatives of Gaucher... (More)

Data emerging from the International Collaborative Gaucher Group (ICGG) Gaucher Registry together with other contemporary clinical surveys have revealed a close association between Gaucher disease and non-Hodgkin's B-cell lymphoma and myeloma and Gaucher disease and Parkinson's disease. Several possible explanations for increased B-cell proliferation and neoplasia in Gaucher disease have been proposed, including the possible influence of sphingosine (derived from the extra lysosomal metabolism of glucosylceramide), gene modifiers, splenectomy and immune system deregulation induced by cytokines, chemokines, and hydrolases released from Gaucher cells. Parkinson's disease is frequently seen in the otherwise-healthy relatives of Gaucher disease patients leading to the finding that GBA mutations represent a genetic risk factor for Parkinson's disease. The mechanism of the association between GBA mutations and Parkinson's disease has yet to be elucidated but the pathogenesis appears distinct from that of Gaucher disease. Several pathogenic pathways have been proposed including lysosomal and/or mitochondrial dysfunction. The effect of Gaucher disease specific therapies on the incidence of cancer or Parkinson's disease are not clear and will likely be evaluated in future ICGG Gaucher Registry studies.

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author
publishing date
type
Contribution to journal
publication status
published
keywords
Comorbidity, Gaucher Disease, Humans, Lymphoma, B-Cell, Parkinsonian Disorders, Journal Article, Research Support, Non-U.S. Gov't, Review
in
American Journal of Hematology
volume
90
issue
Suppl 1
pages
8 - 25
publisher
John Wiley & Sons
external identifiers
  • scopus:84932148155
ISSN
0361-8609
DOI
10.1002/ajh.24057
language
English
LU publication?
no
id
9d53da1e-aad9-4bd8-9a53-bb1e14925b6f
date added to LUP
2016-11-24 14:53:34
date last changed
2017-03-12 04:37:53
@article{9d53da1e-aad9-4bd8-9a53-bb1e14925b6f,
  abstract     = {<p>Data emerging from the International Collaborative Gaucher Group (ICGG) Gaucher Registry together with other contemporary clinical surveys have revealed a close association between Gaucher disease and non-Hodgkin's B-cell lymphoma and myeloma and Gaucher disease and Parkinson's disease. Several possible explanations for increased B-cell proliferation and neoplasia in Gaucher disease have been proposed, including the possible influence of sphingosine (derived from the extra lysosomal metabolism of glucosylceramide), gene modifiers, splenectomy and immune system deregulation induced by cytokines, chemokines, and hydrolases released from Gaucher cells. Parkinson's disease is frequently seen in the otherwise-healthy relatives of Gaucher disease patients leading to the finding that GBA mutations represent a genetic risk factor for Parkinson's disease. The mechanism of the association between GBA mutations and Parkinson's disease has yet to be elucidated but the pathogenesis appears distinct from that of Gaucher disease. Several pathogenic pathways have been proposed including lysosomal and/or mitochondrial dysfunction. The effect of Gaucher disease specific therapies on the incidence of cancer or Parkinson's disease are not clear and will likely be evaluated in future ICGG Gaucher Registry studies.</p>},
  author       = {Cox, Timothy M and Rosenbloom, Barry E and Barker, Roger A},
  issn         = {0361-8609},
  keyword      = {Comorbidity,Gaucher Disease,Humans,Lymphoma, B-Cell,Parkinsonian Disorders,Journal Article,Research Support, Non-U.S. Gov't,Review},
  language     = {eng},
  number       = {Suppl 1},
  pages        = {8--25},
  publisher    = {John Wiley & Sons},
  series       = {American Journal of Hematology},
  title        = {Gaucher disease and comorbidities : B-cell malignancy and parkinsonism},
  url          = {http://dx.doi.org/10.1002/ajh.24057},
  volume       = {90},
  year         = {2015},
}