Document Detail

Neurological evaluation of patients with Gaucher disease diagnosed as type 1.
MedLine Citation:
PMID:  17682016     Owner:  NLM     Status:  MEDLINE    
Type 1 Gaucher disease (GD1) is characterised by lack of central nervous system involvement; however, there are several reports of associated neurological manifestations. The aim of this study was to systematically evaluate neurological manifestations in 31 patients with GD1 (12 males and 19 females; mean age 39.4 (range 5-77) years). Participants underwent a complete neurological examination and cognitive tests. Investigation of symptoms and medication intake, and motor and sensory electroneurograms were obtained. 30.7% of adult patients had neurological deficits, including psychomotor delay, parkinsonism, dementia, impaired saccadic ocular movements and peripheral nerve dysfunction. Three patients were redefined as type 3 GD. Electrodiagnosis was performed on 15 patients; 26.7% had reduced amplitude and/or abnormal waveforms in at least three nerves, 33.3% had a mild reduction in amplitude of two nerves and 40% had amplitude reduction in one nerve. Patients with three or more affected nerves had additional neurological symptoms. Our results demonstrate that neurological alterations occur in patients diagnosed with GD1, and subclinical peripheral neuropathy is a frequent finding.
J L Capablo; A Saenz de Cabezón; J Fraile; P Alfonso; M Pocovi; P Giraldo;
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-08-06
Journal Detail:
Title:  Journal of neurology, neurosurgery, and psychiatry     Volume:  79     ISSN:  1468-330X     ISO Abbreviation:  J. Neurol. Neurosurg. Psychiatr.     Publication Date:  2008 Feb 
Date Detail:
Created Date:  2008-01-18     Completed Date:  2008-02-06     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985191R     Medline TA:  J Neurol Neurosurg Psychiatry     Country:  England    
Other Details:
Languages:  eng     Pagination:  219-22     Citation Subset:  IM    
Neurology Department, Miguel Servet University Hospital, Zaragoza, Spain.
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MeSH Terms
Cognition Disorders / diagnosis*,  physiopathology,  psychology
Dementia / diagnosis,  physiopathology,  psychology
Gaucher Disease / diagnosis*,  physiopathology,  psychology
Middle Aged
Nervous System / physiopathology
Nervous System Diseases / diagnosis*,  physiopathology,  psychology
Neural Conduction / physiology
Neurologic Examination*
Neuropsychological Tests*
Ocular Motility Disorders / diagnosis,  physiopathology,  psychology
Parkinsonian Disorders / diagnosis,  physiopathology,  psychology
Peripheral Nervous System Diseases / diagnosis,  physiopathology,  psychology
Prospective Studies
Psychomotor Disorders / diagnosis,  physiopathology,  psychology
Saccades / physiology

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