Background

 

Adult Polyglucosan Body Disease (APBD) is a rare inherited disorder that affects the nervous system. It presents as early as age 35 and progresses relentlessly. People with this condition lose their ability to walk, lose bladder/bowel control, often experience unusual fatigue, and may have problems with cognition. A variety of other functions impacted by the nervous system may also be impacted.

APBD is caused by a mutation in the glycogen branching enzyme gene (GBE1). 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 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 affects men and women and is found most often — but not always — in people of Ashkenazi Jewish ancestry. Outward symptoms bear a striking resemblance to Multiple Sclerosis (MS). Other more common conditions that have similarities with APBD are: ALS, peripheral neuropathy, and prostate hypertropy (men only). Hence, APBD is often mis-diagnosed and is significantly under-diagnosed. The misdiagnoses lead to patients enduring needless surgeries and/or taking inappropriate medications that come with significant side effects.

Much remains unknown about APBD. Because at-risk populations and most physicians lack awareness of the disease, the number of people living with APBD is uncertain. Even when patients are finally properly diagnosed, the cause of the disorder’s later onset and unpredictable symptom development is still not well understood. Current treatment is 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, among MS sufferers, and across the medical community.

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: