| Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry. | |
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MedLine Citation:
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PMID: 20084461 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To describe demographic, genetic, and clinical characteristics of patients with neuronopathic Gaucher disease (NGD). METHODS: All patients enrolled in the Neurological Outcomes Subregistry of the International Collaborative Gaucher Group (ICGG) Gaucher Registry as of June 2007 were identified. RESULTS: The study cohort comprised 131 patients from 17 countries who were enrolled in the Neurological Outcomes Subregistry. The onset of neurological manifestations had occurred before 2 years of age in 47% (61 out of 131 patients), 2 years of age or older in 41% (54 out of 131), and could not be ascertained in the remaining 12% (16 out of 131). The most common manifestations were inability to look to the extreme up or down (45%, 55 out of 123), abnormally slow object tracking (43%, 53 out of 123), convergent squint (36%, 44 out of 121), and ataxia (15 to 20%, 18-27 out of 117). Seizures were reported in 19 out of 122 patients (16%), and myoclonic seizures were reported in 3 out of 121 patients (2%). The most common genotypes were L444P/L444P (76 out of 108, 70%), L444P/D409H (9 out of 108, 8%), D409H/D409H (8 out of 108, 7%), and L444P/rare allele (6 out of 108, 6%); full sequencing was not performed in all patients. CONCLUSIONS: Neurological manifestations of GD often begin to appear before the age of 2 years. The most common neurological signs and manifestations are brainstem abnormalities and fine motor dysfunction. The most common genotype is L444P/L444P. |
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Authors:
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Anna Tylki-Szymańska; Ashok Vellodi; Amal El-Beshlawy; J Alexander Cole; Edwin Kolodny |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-01-19 |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 33 ISSN: 1573-2665 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-14 Completed Date: 2010-10-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: Netherlands |
Other Details:
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Languages: eng Pagination: 339-46 Citation Subset: IM |
Affiliation:
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Clinic of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04 736, Warsaw, Poland. atylki@op.pl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Brain Stem
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abnormalities* Child, Preschool Cooperative Behavior Cross-Sectional Studies Epilepsy / epidemiology*, genetics Female Gaucher Disease / epidemiology*, genetics Genotype Humans Infant International Cooperation Male Movement Disorders / epidemiology*, genetics Ocular Motility Disorders / epidemiology*, genetics Registries / statistics & numerical data* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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