A case of motor neuron involvement in Gaucher disease

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.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research