Basic science shows how a single mutation causes ataxia

Worldwide, only a handful of patients are known to suffer from episodic ataxia type 6, a neurological disease that causes transient loss of muscle control. The cause lies in a mutation that changes a single amino acid in a protein that transports the neurotransmitter glutamate across the membrane of neural cells. Researchers from the University of Groningen (the Netherlands) have elucidated how the mutation causes these cells to malfunction. Their results appear in Nature Communications.