Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

ABSTRACT:

Objective

Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and peripheral neuropathy. Polyglucosan bodies accumulate in the central and peripheral nervous systems and are often associated with glycogen branching enzyme (GBE) deficiency. To improve clinical diagnosis and enable future evaluation of therapeutic strategies, we conducted a multinational study of the natural history and imaging features of APBD.

Methods

We gathered clinical, biochemical, and molecular findings in 50 APBD patients with GBE deficiency from Israel, the United States, France, and the Netherlands. Brain and spine magnetic resonance images were reviewed in 44 patients.

Results

The most common clinical f

SUBMITTER: Mochel F 

PROVIDER: S-EPMC4329926 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature