Document Detail


Are symptoms of peripheral neuropathy more prevalent in patients with Gaucher disease?
MedLine Citation:
PMID:  17376127     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: A previous epidemiological survey from an American referral clinic noted a high incidence of neurological symptoms among patients with type I (non-neuronopathic) Gaucher disease all of whom were treated with specific enzyme replacement. OBJECTIVES: The current study replicates the above in a larger cohort of Ashkenazi Jewish patients with at least one N370S mutation which has been assumed to be protective of neurological involvement. About half the patients had mild disease and were untreated. Methods - Self-reporting questionnaires were sent to patients and their significant others as socio-economically matched controls. RESULTS: There was no significant difference between groups in incidence of concomitant diseases and medications, except patients who reported a significantly higher incidence of vitamin B(12) deficiency and gammopathies. Patients reported significantly higher incidence of virtually all symptoms and signs of peripheral neuropathy and a significantly higher number of symptoms than controls (mean 4.4 vs 2.4). CONCLUSIONS: The conclusion of this study, as of the seminal study, is that the high incidence of neurological complaints in patients with the non-neuronopathic form of Gaucher disease should be viewed in the context of concomitant illnesses, specifically, vitamin B(12) deficiency and gammopathies, regardless of the need for enzyme replacement therapy.
Authors:
A Halperin; D Elstein; A Zimran
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Acta neurologica Scandinavica     Volume:  115     ISSN:  0001-6314     ISO Abbreviation:  Acta Neurol. Scand.     Publication Date:  2007 Apr 
Date Detail:
Created Date:  2007-03-22     Completed Date:  2007-06-05     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0370336     Medline TA:  Acta Neurol Scand     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  275-8     Citation Subset:  IM    
Affiliation:
Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel.
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Case-Control Studies
Female
Gaucher Disease / complications*
Humans
Jews / statistics & numerical data*
Male
Middle Aged
Peripheral Nervous System Diseases / complications*,  ethnology*
Prevalence
Questionnaires
Severity of Illness Index

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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