Abstract
The association between type 1 Gaucher disease and PD has been reported in the literature. The clinical picture is characterized by the predominance of bilateral akinetic-rigid signs and poor response to levodopa therapy. The authors describe four patients (two siblings) with type 1 Gaucher disease presenting with the following signs of typical PD: asymmetric onset of rigidity, resting tremor, bradykinesia, and a favorable response to Parkinson therapies.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Age of Onset
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Aged
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Anemia / etiology
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Antiparkinson Agents / therapeutic use
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DNA Mutational Analysis
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Disease Progression
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Drug Resistance
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Female
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Gaucher Disease / complications*
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Gaucher Disease / diagnosis*
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Gaucher Disease / genetics
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Gaucher Disease / therapy
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Glucosylceramidase / genetics
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Glucosylceramidase / therapeutic use
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Hepatomegaly / etiology
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Humans
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Hypokinesia / etiology
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Levodopa / therapeutic use
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Male
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Middle Aged
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Muscle Rigidity / etiology
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Parkinson Disease / complications*
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Parkinson Disease / diagnosis*
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Parkinson Disease / drug therapy
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Recombinant Proteins / therapeutic use
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Siblings
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Splenomegaly / etiology
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Thrombocytopenia / etiology
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Tremor / etiology
Substances
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Antiparkinson Agents
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Recombinant Proteins
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Levodopa
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Glucosylceramidase
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imiglucerase