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The Adult Polyglucosan Body Disease Research Foundation (APBDRF) is the only national non-profit health organization dedicated solely to finding the cause and cure for Adult Polyglucosan Body Disease (APBD). APBDRF strives to be the leading charitable funder and advocate of research worldwide

Patients and their relatives: Information about APBD is available Researches: Grant support for APBD research Donors Support the foundation to find a cure

Is your patient over 40? Is slow, progressive neurodegeneration occurring? Does your patient have:

What are Polyglucosan bodies? Glucose polymers that are diastase resistant. These aggregates are present within axons, beneath the sarcolemma, and between myofibrils The Genetics of APBD - Autosomal recessive - Many patients are of Ashkenazic Jewish ancestry - Half of patients have deficiency of glycogenbranching enzyme (GBE) - Common GBE mutation in Jewish patients Tyr329Ser - In other patients GBE is normal Current treatments - Supportive with symptomatic care - Bladder care with antispasmotic anticholnergic agents and self-catherization - Ambulation aids, wheelchair What Can Be Done - Educate neurologists, geneticist, urologist, physiatrists, psychiatrists and neuropsychologists to recognize APBD - Tell your patients about the APBD Research Foundation

Walking Difficulty? A peripheral neuropathy? A neurogenic bladder? Brain white matter changes?


E-mail us at so we may keep you posted about new developments and events. This list is for the APBDRF use only and will never be shared with anyone else

ADULT POLYGLUCOSAN BODY DISEASE COULD BE THE PROBLEM Can you diagnose this condition? Is there a treatment? Clinical Findings - Severe weakness, leg stiffness - Deterioration in gait, poor balance - Distal sensory loss in the lower limbs - Urinary dysfunction, incontinence - Sexual dysfunction, autonomic signs - Impairment in executive functions & cognition Laboratory Findings - EMG-Sensorimotor polyneuropathy with axonal loss - MRI-Cortical atrophy, cerebellar atrophy, diffuse


Donate online at Donate by Telephone: 212-643-1221

Donate by Mail: APBDRF 8 West 37th Street, Ste 901 New York, NY 10018 The foundation is a 501 (c)(3) non-profit, taxexempt organization designated by the Internal Revenue Code. Our federal tax identification number is 20-3609790.
For Testing Contact Dr. Orhan Akman at Columbia University Medical Center Physicians and Surgeons 630 West 168th StreetRoom 4-431, New York, NY 10032

212-305-1664 or 212-305-1663
About our LOGO: Our LOGO was designed by Dr. Orhan Akman and shows a highly branched normal glycogen molecule and - superimposed in red - a schematic view of the poorly branched polyglucosan structure.