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Last updated on April 24, 2014 at 17:35 EDT

Genes of Rare Brain Disease Identified

June 24, 2011

(Ivanhoe Newswire)–The second most common cause of degenerative Parkinsonism is a devastating disease that currently has no available treatment. The disease is called progressive supranuclear palsy, or PSP, and is a form of frontotemporal dementia that affects around three to six people per 100,000.

According to a new study conducted by researchers from the Perelman School of Medicine at the University of Pennsylvania, there are new genetic clues on the risk factors and biological causes of this rare neurodegenerative disease. Researchers working on this study increase there knowledge on both genetics and the underlying cause of the disease. Gerard Schellenberg, PhD and professor of Pathology and Laboratory Medicine in the Perelman School of Medicine at the University of Pennsylvania was quoted saying, “We hope this work will not only benefit patients with PSP, but will also increase our understanding of related more common diseases, such as Alzheimer’s disease.”

PSP is characterized by a difficulty in coordinating eye movement, imbalance and instability, stiff movements, and mood and emotional changes. The disease is primarily caused by an abnormal accumulation of tau protein, well known for its role in Alzheimer’s disease.

In a study comparing 1,114 autopsy-confirmed cases of PSP to 3,287 control subjects, researchers found significant genetic variations in three regions of the brain. Three newly-identified genes were discovered in this study: EIF2AK3 which is a gene that encodes for endoplasmic reticulum unfolded protein response, STX6 which encodes a protein called syntaxin 6 that typically shuttles vesicles within the cell, and MOBP, a protein found in the brain region that’s affected in PSP.
 
At this time, there is no genetic test to measure the risk of PSP, but these findings are the first step towards understanding the genes that are associated with the risk of being diagnosed with PSP. These findings could potentially lead to the ability to predict, with more accuracy, who will get this disease. “Prediction will become important when we have preventative therapies for this devastating condition,” Dr. Schellenberg was quoted saying.

There is no FDA-approved treatment to change the course of this rare disease and therefore clinical trials and drug discovery efforts in search for potential PSP treatments are greatly needed.

SOURCE: University of Pennsylvania School of Medicine, June 21, 2011