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QJM. 1996 Sep;89(9):691-4.

Occurrence of Parkinson's syndrome in type I Gaucher disease.

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Gaucher Clinic, Department of Medicine, Shaare-Zedek Medical Center, Jerusalem, Israel.


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.

[Indexed for MEDLINE]

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