Manchester researchers have contributed towards the discovery of a genetic brain disease which can cause paraplegia and epilepsy in sufferers.

Hereditary spastic paraplegias (HSP) are a group of genetic disorders that cause weakness and stiffness in the leg muscles. Generally symptoms gradually get worse over time, and severely affected patients are wheelchair dependent.

Changes in several genes are known to cause HSP. However, the underlying cause in a substantial number of patients remains unknown. Currently, there is no cure for HSP.

Via human genetic studies and international collaboration, teams in Manchester and Amsterdam worked together to identify a new cause of HSP. They found that this disease is caused by mutations in a gene called PCYT2, which caused the gene to be less active.

The researchers studied the effects of the condition using zebrafish and cell samples from patients with the disease.

They found that zebrafish with normal or reduced PCYT2 activity had significantly better survival rates than those with absent PCYT2 activity, leading Dr Siddharth Banka – Clinical Senior Lecturer at The University of Manchester and Consultant Clinical Geneticist at Manchester University NHS Foundation Trust (MFT) – and his colleagues to conclude that complete loss of PCYT2 activity is likely to be, ’incompatible with life in vertebrates’.