Document Detail

Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy.
MedLine Citation:
PMID:  20300794     Owner:  NLM     Status:  MEDLINE    
The X-linked genetic Fabry disease causes multiorgan lesions due to intracellular storage of the substrate globotriaosylceramide. Neurological involvement ranges from painful, small fiber neuropathy to cerebrovascular disorders to multifocal aggressive forms. Disease identification through proper differential diagnosis and timely assessment of organ damage should guide a careful treatment planning. Mainstay treatment, include enzyme replacement and support therapy. Neurologists have a pivotal role in early instrumental and clinical detection of organ damage. A panel of experts has developed a set of consensus recommendations to guide the approach of neurologists to Fabry disease.
Alessandro Salviati; Alessandro P Burlina; Walter Borsini
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Publication Detail:
Type:  Consensus Development Conference; Journal Article; Practice Guideline     Date:  2010-03-19
Journal Detail:
Title:  Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology     Volume:  31     ISSN:  1590-3478     ISO Abbreviation:  Neurol. Sci.     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-05-13     Completed Date:  2010-08-18     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  100959175     Medline TA:  Neurol Sci     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  299-306     Citation Subset:  IM    
Section of Clinical Neurology, Department of Neurological Sciences and Vision, University Hospital, Verona, Italy.
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MeSH Terms
Diagnosis, Differential
Early Diagnosis
Enzyme Replacement Therapy*
Fabry Disease / diagnosis*,  pathology,  therapy*
Nervous System Diseases / diagnosis*,  pathology,  therapy*

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