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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Neuronopathic Gaucher disease: Demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry
Journal of Inherited Metabolic Disease, Volume 33, No. 4, Year 2010
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Description
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. © 2010 SSIEM and Springer.
Authors & Co-Authors
Tylki-Szymańska, Anna
Poland, Warsaw
Instytut Pomnik - Centrum Zdrowia Dziecka
Vellodi, Ashok
United Kingdom, Wakefield
Nhs England
El-Beshlawy, Amal M.
Egypt, Cairo
Cairo University Hospitals
Cole, J. Alexander
United States, Cambridge
Genzyme Corporation
Kolodny, Edwin
United States, New York
New York University
Statistics
Citations: 109
Authors: 5
Affiliations: 5
Identifiers
Doi:
10.1007/s10545-009-9009-6
ISSN:
01418955
e-ISSN:
15732665
Research Areas
Genetics And Genomics
Study Design
Cohort Study