Devoted to diagnostic and interventional spine imaging and therapeutics


An Atypical Case of Adult Polyglucosan Body Disease 2012

General Spine

Michael, E., Seymour, M.D.
David, P., Chason, M.D., Non ASSR Member
Lisa, I., Yang, M.D., Non ASSR Member
Carlos, L., Perez, M.D., Non ASSR Member


Adult Polyglucosan Body Disease (APBD) is a rare adult-onset glycogen storage disease affecting the central and peripheral nervous system involving decreased activity of glycogen branching enzyme.


To report a case of a 50 year-old male who presents with atypical genetic profile APBD and MR findings of diffuse spinal cord atrophy.

Methods & Materials

The clinical documents and imaging studies were reviewed.


A 50 year-old male of Ashkenazi Jewish descent presented with a three year history of progressive gait unsteadiness, bladder urgency and frequency, bilateral paresthesias of the feet, and proximal leg weakness. MR of the cervical spine showed diffuse atrophy of the entire cervical and thoracic spinal cord and abnormal signal, most prominent within the medulla and dorsal columns to C3. There was no abnormal cord enhancement. Direct DNA sequencing assay demonstrated a mutation in the GBE1 (glycogen branching enzyme) gene, heterozygous at Tyr329Ser. The patient's progressive neurological symptoms were attributed to a form of APBD manifesting fully symptomatic in a heterozygous state.


APBD is a rare adult onset glycogen storage disease seen in patients with decreased activity of glycogen branching enzyme, encoded by the gene GBE1. The most common mutation of GBE1 in APBD is homozygous at Tyr329Ser. We found one other case of APBD in the literature that presented with a heterozygous Tyr329Ser mutation. Despite an atypical genetic profile, our patient presented with classic progressive neurological symptoms with spinal imaging correlates of APBD. Although a rare diagnosis, radiologists should be aware of the symptomatology and imaging findings of APBD.

References/Financial Disclosures

Klein CJ, Boes CJ, Chapin JE, Lynch CD, Campeau NG, Dyck PJ, Dyck PJ. Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. Muscle Nerve 2004;29:323-8. Massa R, Bruno C, Martorana A, de Stefano N, van Diggelen OP, Federico A. Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. Muscle Nerve 2008;37:530-6. Ubogu EE, Hong ST, Akman HO, Dimauro S, Katirji B, Preston DC, Shapiro BE. Adult polyglucosan body disease: A case report of a manifesting heterozygote. Muscle Nerve 2005;32:675-81. No disclosures.