title: Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry.
abstract: 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.
authors.affiliation: Clinic of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04 736, Warsaw, Poland. atylki@op.pl
authors.forename: Anna
authors.initials: A
authors.lastname: Tylki-Szymańska
authors.forename: Ashok
authors.initials: A
authors.lastname: Vellodi
authors.forename: Amal
authors.initials: A
authors.lastname: El-Beshlawy
authors.forename: J Alexander
authors.initials: JA
authors.lastname: Cole
authors.forename: Edwin
authors.initials: E
authors.lastname: Kolodny
mesh_terms: D001933:Brain Stem / Q000002:abnormalities*; D002675:Child, Preschool; D003299:Cooperative Behavior; D003430:Cross-Sectional Studies; D004827:Epilepsy / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005776:Gaucher Disease / Q000453:epidemiology* / Q000235:genetics; D005838:Genotype; D006801:Humans; D007223:Infant; D007391:International Cooperation; D008297:Male; D009069:Movement Disorders / Q000453:epidemiology* / Q000235:genetics; D015835:Ocular Motility Disorders / Q000453:epidemiology* / Q000235:genetics; D012042:Registries / Q000706:statistics & numerical data*