| Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study. | |
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MedLine Citation:
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PMID: 20693542 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Type 1 Gaucher disease is currently categorized as non-neuronopathic, although recent studies suggest peripheral neurological manifestations. We report prevalence and incidence data for peripheral neuropathy and associated conditions from a multinational, prospective, longitudinal, observational cohort study in patients with type 1 Gaucher disease, either untreated or receiving enzyme replacement therapy. The primary outcome parameters were the prevalence and incidence of polyneuropathy, evaluated by standardized assessments of neurological symptoms and signs, and electrophysiological studies. All diagnoses of polyneuropathy were adjudicated centrally. Secondary outcome parameters included the prevalence and incidence of mononeuropathy, other neurological or electrophysiological abnormalities not fulfilling the criteria for a mono- or polyneuropathy and general type 1 Gaucher disease symptoms. Furthermore, a literature search was performed to identify all studies reporting on prevalence and incidence of polyneuropathy in the general population. One hundred and three patients were enrolled [median (range) age: 42 (18-75) years; disease duration: 15 (0-56) years; 52% female]; 14 (13.6%) were untreated and 89 (86.4%) were on enzyme replacement therapy. At baseline, 11 patients [10.7%; 95% confidence interval (CI): 5.9-18.3] were diagnosed with sensory motor axonal polyneuropathy. Two (1.9%; 95% CI: 0.1-7.2) had a mononeuropathy of the ulnar nerve. The 2-year follow-up period revealed another six cases of polyneuropathy (2.9 per 100 person-years; 95% CI: 1.2-6.3). Patients with polyneuropathy were older than those without (P<0.001). Conditions possibly associated with polyneuropathy were identified in four patients only, being monoclonal gammopathy, vitamin B(1) deficiency, folic acid deficiency, type 2 diabetes mellitus, renal insufficiency, alcohol abuse and exposure to toxins related to profession. The 11 cases of polyneuropathy found at baseline were confirmed during follow-up. According to the literature, the prevalence of polyneuropathy in the general population was estimated between 0.09 and 1.3% and the incidence was estimated between 0.0046 and 0.015 per 100 person-years. Thus, we conclude that the prevalence and incidence of polyneuropathy in patients with type 1 Gaucher disease is increased compared with the general population. |
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Authors:
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Marieke Biegstraaten; Eugen Mengel; Laszlo Maródi; Milan Petakov; Claus Niederau; Pilar Giraldo; Derralyn Hughes; Mirando Mrsic; Atul Mehta; Carla E M Hollak; Ivo N van Schaik |
Publication Detail:
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Type: Journal Article; Multicenter Study Date: 2010-08-07 |
Journal Detail:
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Title: Brain : a journal of neurology Volume: 133 ISSN: 1460-2156 ISO Abbreviation: Brain Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-09-30 Completed Date: 2010-10-19 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0372537 Medline TA: Brain Country: England |
Other Details:
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Languages: eng Pagination: 2909-19 Citation Subset: AIM; IM |
Affiliation:
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Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands. i.n.vanschaik@amc.uva.nl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Aged Electrodiagnosis Female Gaucher Disease / complications* Humans Incidence Male Middle Aged Patient Selection Peripheral Nervous System Diseases / complications*, epidemiology* Prevalence Prospective Studies |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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