Erschienen in:
01.10.2011 | Original Article
Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool
verfasst von:
Elin Haf Davies, Eugen Mengel, Anna Tylki-Szymanska, G. Kleinotiene, Joerg Reinke, Ashok Vellodi
Erschienen in:
Journal of Inherited Metabolic Disease
|
Ausgabe 5/2011
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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.