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Occurrence of Parkinson's syndrome in type 1 Gaucher disease

O. Neudorfer, N. Giladi, D. Elstein, A. Abrahamov, T. Turezkite, E. Aghai, A. Reches, B. Bembi, A. Zimran
DOI: http://dx.doi.org/10.1093/qjmed/89.9.691 691-694 First published online: 1 September 1996


Gaucher disease, the most prevalent glycolipid storage disorder, is classically subdivided into types according to the presence or absence of neurological involvement. Type I has hitherto been considered non-neuronopathic. We present six cases and a review of the literature of Parkinsonian symptoms in type I Gaucher disease patients. The hallmark of this atypical Parkinsonian syndrome is a relatively severe clinical course with early appearance of neurological signs in the 4th to 6th decade of life, aggressive progression of the signs and refractoriness to conventional anti-Parkinson therapy. We discuss the implications of these findings in the light of enzyme replacement therapy for Gaucher disease.