Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool
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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.
KeywordsEnzyme Replacement Therapy Original Review Substrate Reduction Therapy Neuronopathic Gauche Disease Task Force Guideline
This work was made possible by grants from the Gaucher Association UK and Genzyme. Thank you also to the international experts who took part in the discussion to modify the SST: Amal El Beshlawy, Egypt; B. Bembi, Italy; Edward Giannini, USA; Thong Meow Keong, Malaysia; Ana Maria Martins, Brazil; A Tylki-Szymanska, Poland; Ashok Vellodi, UK.
- Tylki-Szymańska A, Vellodi A, El-Beshlawy A, Cole JA, Kolodny E (2010) Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry. J Inherit Metab Dis 33(4):339–46PubMedCrossRefGoogle Scholar
- Vellodi A, Bembi B, de Villemeur TB, Collin-Histed T, Erikson A, Mengel E, Rolfs A, Tylki-Szymanska A (2001) Neuronopathic Gaucher Disease Task Force of the European Working Group on Gaucher Disease. 2001 Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis 24(3):319–27PubMedCrossRefGoogle Scholar