Background

Adult Polyglucosan Body Disease (APBD) is a rare inherited disorder that affects the nervous system. It usually occurs later in life and progresses slowly. People with this condition develop problems in their ability to walk, speak, think and function normally in a variety of ways.

APBD is caused by a mutation in the glycogen branching enzyme gene. This leads to the build up of abnormal glycogen, called polyglucosan bodies (PBs), which are starch-like and difficult to dissolve. Because PBs amass in the neurons of brain cells which conduct messages from the brain to the rest of the body, they block the action of these neurons. This can produce problems in the brain, muscles, liver, kidneys and lungs.

The disease typically affects men and women over age 35, particularly of Ashkenazi Jewish ancestry. Due to symptoms shared with more common conditions such as prostate cancer, dementia, ALS, Alzheimer’s, and multiple sclerosis, APBD is often mis-diagnosed or under-diagnosed.

Much remains unknown about APBD. Because of lack of awareness of the disease and the difficulty in diagnosing it, the number of people living with APBD is uncertain. Even when patients are finally properly diagnosed, the cause of the disease’s late onset and unpredictable symptom development are still not well understood. Many APBD cases in men were originally diagnosed as enlarged prostate conditions, but were identified correctly only after extensive invasive testing and in some cases unnecessary surgical procedures. Currently treatment is mainly supportive rather than curative, addressing symptoms such as difficulty walking, lack of bladder control and dementia.

Because so many unknowns still exist for people with APBD, Gregory Weiss, a patient himself, founded the Adult Polyglucosan Body Disease Research Foundation (APBDRF) in 2005. The Foundation is dedicated to increasing public awareness and understanding of APBD, especially in the at-risk Ashkenazi Jewish Community and the medical community, which still remains largely unaware of the disease.

The Foundation is also committed to supporting research studies that may lead to new treatment options and a cure. The research strategy of the Foundation is driven by its unparalleled Scientific Advisory Board, a multidisciplinary, international group of leading researchers and clinicians.

The Adult Polyglucosan Body Disease Research Foundation works towards: