Recent findings have identified the genetic culprit that leads to the little-known condition of Primary Progressive Aphasia, as detailed in EurekAlert! article, “Researchers Discover Genetic Cause for Word-Finding Disease.”
Primary Progressive Aphasia, or PPA, is a degenerative condition thought to be related to dementia, but with major differences. PPA is a neurological disease that affects the portion of the brain that handles speech and word memory. Individuals with PPA first show signs in their 40’s and 50’s, and slowly lose their ability to understand language and communicate with others. Unlike dementia patients, PPA sufferers retain their non word-related memories and the ability to interact and function as unaffected adults.
Researchers at Northwestern University have found that a progranulin genetic mutation is responsible for the mostly unknown disease, first diagnosed in 1982. No exact count is available on how many people in the U.S. are affected by PPA, but Marsel Mesulam, M.D., director of Northwestern University’s Cognitive Neurology and Alzheimer’s disease center, as well as the first doctor to diagnose the disease, estimates the number to be in the tens of thousands.
The next steps in finding a cure for PPA is to figure out just why the genetic mutation only targets the language center of the brain, and how exactly it works. Initial research has shown through MRI brain imaging, that the perisylvian region of the brain (which is responsible for speech and language) shrinks when affected by PPA. This is similar to what the Alzheimer’s gene does, but Alzheimer’s attacks the hippocampus.
Mesulam is intrigued by how different Alzheimer’s is from Primary Progressive Aphasia. He says that, though PPA sufferers cannot communicate, they function normally otherwise for the first several years of the disease. “One of my patients redid his vacation home and rebuilt all the cabinets himself… We have patients who do very complicated things even when they can’t put two sentences together,” says Mesulam.
For more information on PPA, you can view Northwestern University’s Primary Progressive Aphasia handbook here.
{ 0 comments… add one now }