New genetic mutation linked to Parkinson's disease

INDIANAPOLIS A mutation in a recently discovered Parkinson's disease gene is believed to be the most common genetic cause of inherited forms of the disease, according to a Parkinson Study Group study appearing in The Lancet in January.

Researchers say the mutation on the LRRK2 gene is responsible for 5 percent of inherited Parkinson's disease cases.

Tatiana Foroud, Ph.D., associate professor of medical and molecular genetics at Indiana University School of Medicine and principal investigator on the multi-site study, said the discovery has a broad implication for genetic screening for the disease.

"Our results suggest that the mutation we have studied is the most common cause of Parkinson's disease identified to date," said Dr. Foroud. "While a great deal of work remains to be done, it is clear that any future genetic testing for Parkinson's disease must include studies of the LRRK2 gene."

The patients in the Indiana University study who had the mutation had longer disease duration but less severe symptoms when they were participating in the trial. That suggests that the mutation may be associated with slower disease progression, said Dr. Foroud.

The Indiana University paper published in The Lancet is one of three Parkinson's studies to appear in the upcoming edition. The second study is by Nicholas W. Wood, M.D., of the Institute of Neurology in London. The third paper is by Vincenzo Bonifati, M.D., Ph.D., of Erasmus MC in Rotterdam, Netherlands.

The studies will be available in the Jan. 18 online edition of The Lancet and the Jan. 29 edition of the journal.

The IU study focused on 767 Parkinson's disease patients from 358 families. The patients were recruited by specialists from 59 medical centers associated with the Parkinson Study Group, a non-profit, cooperative group of Parkinson's disease experts from the United States, Canada and Puerto Rico.

The molecular studies were performed at Cincinna

Contact: Mary Hardin
Indiana University

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