Gaucher Disease Type 3

Common Name(s)

Gaucher Disease Type 3, Subacute neuronopathic Gaucher's disease

Gaucher disease type III is the subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease, type II. {21:Patterson et al. (1993)} suggested that there are 2 phenotypic subgroups of Gaucher disease type III: type IIIA, which is characterized by myoclonus and dementia, and type IIIB, characterized by early onset of isolated horizontal supranuclear gaze palsy and aggressive systemic disease. See also Gaucher disease type IIIC ({231005}), which is associated with cardiovascular calcifications.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gaucher Disease Type 3" for support, advocacy or research.

National Gaucher Foundation

In addition to raising millions of dollars to support and promote research towards the cause, treatments and a cure for Gaucher disease, the NGF's mission is to provide assistance and resources to families and individuals who are affected by the disease. To meet the ever-increasing needs of the Gaucher community, the NGF provides a wide range of financial, educational, legislative, mentor and outreach programs for families and individuals with Gaucher disease.

http://www.gaucherdisease.org

Last Updated: 30 Oct 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gaucher Disease Type 3" for support, advocacy or research.

National Gaucher Foundation

In addition to raising millions of dollars to support and promote research towards the cause, treatments and a cure for Gaucher disease, the NGF's mission is to provide assistance and resources to families and individuals who are affected by the disease. To meet the ever-increasing needs of the Gaucher community, the NGF provides a wide range of financial, educational, legislative, mentor and outreach programs for families and individuals with Gaucher disease.

http://www.gaucherdisease.org

Last Updated: 30 Oct 2012

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Gaucher Disease Type 3" returned 6 free, full-text research articles on human participants. First 3 results:

The saccadic and neurological deficits in type 3 Gaucher disease.
 

Author(s): William Benko, Markus Ries, Edythe A Wiggs, Roscoe O Brady, Raphael Schiffmann, Edmond J Fitzgibbon

Journal: PLoS ONE. 2011 ;6(7):e22410.

 

Our objective was to characterize the saccadic eye movements in patients with type 3 Gaucher disease (chronic neuronopathic) in relationship to neurological and neurophysiological abnormalities. For approximately 4 years, we prospectively followed a cohort of 15 patients with Gaucher ...

Last Updated: 29 Jul 2011

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Expanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype.
 

Author(s): Sarah M Lo, Philip Stein, Sean Mullaly, Michael Bar, Dhanpat Jain, Gregory M Pastores, Pramod K Mistry

Journal: Am. J. Hematol.. 2010 May;85(5):340-5.

 

In Gaucher disease (GD), inherited deficiency of lysosomal glucocerebrosidase due to mutations in GBA1 gene results in accumulation of glucosylceramide in tissue macrophages, systemic macrophage activation, and a complex multisystemic phenotype. We and others have reported an increased ...

Last Updated: 28 Apr 2010

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High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients.
 

Author(s): R Rozenberg, F T Ara├║jo, D C Fox, P Aranda, A Nonino, C Micheletti, A M Martins, R Cravo, E Sobreira, L V Pereira

Journal: Braz. J. Med. Biol. Res.. 2006 Sep;39(9):1171-9.

 

Gaucher disease (GD), the most prevalent lysosome storage disorder, presents an autosomal recessive mode of inheritance. It is a paradigm for therapeutic intervention in medical genetics due to the existence of effective enzyme replacement therapy. We report here the analysis of GD ...

Last Updated: 18 Sep 2006

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Gaucher Disease Type 3" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease
 

Status: Recruiting

Condition Summary: Gaucher Disease, Type 3

 

Last Updated: 25 Mar 2014

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Examining the Immune Response in Patients With Gaucher Disease and Hepatitis B or C
 

Status: Recruiting

Condition Summary: Gaucher Disease; Hepatitis B; Hepatitis C

 

Last Updated: 10 Jan 2011

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