Mutations Link Cerebellar Ataxia, Spastic Paraplegia to Lipid Biology

Mutations Link Cerebellar Ataxia, Spastic Paraplegia to Lipid Biology

18 January 2013. You say “po-tay-toh,” and I say “po-tah-toh.” Or in the case of two sets of authors writing in the January 17 American Journal of Human Genetics online, one group says “cerebellar ataxia with spasticity,” while the other says “spastic paraplegia with ataxia.” Each found that mutations in β-glucocerebrosidase 2 (GBA2) causes the condition they studied. People with homozygous faulty GBA2 genes experienced both the disordered movements of ataxia and the muscle stiffness of spasticity. Clinically speaking, both spastic paraplegia and ataxia come in dozens of forms, but in these cases, the researchers were likely studying the same condition by two different names, said experts who spoke with Alzforum. “These diseases are essentially identical,” said Craig Blackstone of the National Institute of Neurological Disorders and Stroke in Bethesda, Maryland, who was not involved with either study.

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