title: Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool.
abstract: In 2007, the European Task Force for neuronopathic Gaucher disease (NGD) published a review of 55 patients across four countries. Although some observations were possible, analysis was difficult due to the absence of a systematic way of assessing patients. In response to this, a Severity Scoring Tool (SST) was devised to offer a systematic means of assessing the neurological presentation seen. The SST has been modified (mSST) and is a valid tool for monitoring neurological progression. This review describes disease status and progression of neurological manifestations in a cohort of 39 chronic NGD patients across three European countries over a period of 4 years, using the mSST.
authors.affiliation: Institute of Child Health, London, UK. E.Davies@ich.ucl.ac.uk
authors.forename: Elin Haf
authors.initials: EH
authors.lastname: Davies
authors.forename: Eugen
authors.initials: E
authors.lastname: Mengel
authors.forename: Anna
authors.initials: A
authors.lastname: Tylki-Szymanska
authors.forename: G
authors.initials: G
authors.lastname: Kleinotiene
authors.forename: Joerg
authors.initials: J
authors.lastname: Reinke
authors.forename: Ashok
authors.initials: A
authors.lastname: Vellodi
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005060:Europe / Q000453:epidemiology; D005260:Female; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000145:classification* / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy; D006801:Humans; D008297:Male; D012107:Research Design / Q000639:trends; D012720:Severity of Illness Index; D013997:Time Factors; D055815:Young Adult