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Gaucher disease (GD) is a genetic disorder characterized by an accumulation of glucosylceramide in cells in the monocyte-macrophage system. We describe a case of a 33-year-old man with a previous… Click to show full abstract
Gaucher disease (GD) is a genetic disorder characterized by an accumulation of glucosylceramide in cells in the monocyte-macrophage system. We describe a case of a 33-year-old man with a previous diagnosis of type 3 GD who displayed a progressive weakening of the limbs followed by upper motor neuron involvement. A diagnosis of definite Amyotrophic Lateral Sclerosis was made. This is the first reported case of concurrent Gaucher disease and the ALS phenotype in the same patient.
Keywords:
gaucher;
gaucher disease;
neuron involvement;
motor neuron;
case
Journal Title: Molecular Genetics and Metabolism Reports
Year Published: 2019
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Journal Title: Molecular Genetics and Metabolism Reports
Year Published: 2019
Link to full text (if available)
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recommendations!