“Frequent misdiagnoses of
adult polyglucosan body disease”

Hellman MA, et al.  J Neurol. 2015 Jul 21.

Summary of findings:

Common Initial Symptoms – 30 patients studied
Bladder dysfunction   ●   Gait problems

Common Initial Misdiagnoses – 30 patients studied
MS   ●   ALS   ●   Cerebral small vessel disease
●   Peripheral neuropathies

Signs at time of Correct Diagnosis
(on the average, 6.8 years after presentation)
Decreased or absent ankle reflexes
Bilateral extensor plantar response
Spasticity in the legs
Distal sensory deficit

Radiologic Findings at time of Correct Diagnosis
Cervical spinal cord atrophy

APBD is diagnosed world-wide, but more frequently
among patients of Ashkenazi Jewish background.

DNA testing at Columbia University
underwritten by the APBD Research Foundation.
Go to APBDRF.org for more information.