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Updated: Jun 21, 2026

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
[Cerebellar syndrome in Gaucher's disease]
B Ukley1, A Bachhuber, W Hermann
1Klinik für Neurologie, Paracelsus-Klinik, Werdauer Strasse 68, 08060, Zwickau, Deutschland. dr.britt.ukley@pk-mx.de
Abstract:
This is a report on a 37-year-old female patient with enzymatically verified Gaucher's disease. The clinical symptoms corresponded to the neuronopathic form of the disease (type 3). A progressive cerebellar syndrome had been developing for 1 year. So far, there have been no records of complex cerebellar symptoms in connection with Gaucher's disease in the literature. After ruling out other differential diagnoses Gaucher's disease was considered to be the cause of such cerebellar symptoms, which could be attributed to toxic glucocerebroside deposits in the cerebellum.
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