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Four‐year follow‐up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool
Author(s) -
Davies Elin Haf,
Mengel Eugen,
TylkiSzymanska Anna,
Kleinotiene G.,
Reinke Joerg,
Vellodi Ashok
Publication year - 2011
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-011-9347-z
Subject(s) - cohort , disease , enzyme replacement therapy , pediatrics , degenerative disease , medicine , cohort study
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.