The PSP Association

An American-led international team of researchers, which included Professors Andrew Lees, John Hardy, and Dr Rohan de Silva, of University College, London, has succeeded in identifying three new genes that can increase the risk of people developing Progressive Supranuclear Palsy (PSP).

PSP is a rare neurodegenerative brain disease, which causes severe disability by destroying parts of cells that allow the brain to function normally. While PSP has underlying biological similarities to Alzheimer's disease, a disease which primarily affects memory, PSP impacts a person's physical movement and bodily functions. PSP leads to progressive decline in patients - there is no known cause or cure.

The study found significant genetic signals associated with PSP risk at several genes including STX6, EIF2AK3, MOBP, and confirmed two variants within MAPT (the tau gene), which influences tau expression in the brain. The identified genes encode proteins for vesicle functioning, protein folding, and myelin - critical functions that help the brain operate normally. The findings appear in the current issue of the prestigious Journal Nature Genetics (NG-A29596R1).

Understanding the cause of the disease is a critical step in the battle against PSP, and may lead to the creation of tools for early diagnosis, preventative drug treatments, and eventually, a cure.

"This genome-wide association study is one of the most important research projects we have been involved in," said Fergus Logan, Chief Executive of The PSP Association. "The study represents an extraordinary collaborative effort involving over forty scientists from seven countries on both sides of the Atlantic. It is significant because it will help researchers better understand the factors that lead to the development of PSP, for so long a mystery."