"Clinical presentation "
"Adult polyglucosan body disease is an autosomal recessive condition caused by mutation in the GBE1 gene on chromosome 3p12.2 1-4. The most implicated mutation is the missense mutation p.Y329S, which is particularly common within the Ashkenazi Jewish population 1-4."
"T1: isointense or hypointense"
"T2/FLAIR: hyperintense"
"GBE1 normally encodes for the glycogen branching enzyme (GBE), also known as 1,4-alpha-glucan-branching enzyme 1,2. Mutation to GBE1 results in a reduction in GBE activity, usually to"
Expected headings
"Clinical presentation "
"Brain"
"Spinal cord"
"Adult polyglucosan body disease is considered very rare 1,2, but the exact incidence is not known and it may often be misdiagnosed and thus underdiagnosed 1. It is particularly common in Ashkenazi Jews, however, has been described in other ethnicities and is likely panethnic 1-4. There is no known sex predilection 1. The median age of onset is approximately 50 years 1."
"There is no disease modifying therapy available 2,6, and thus, management consists of symptomatic treatment (e.g. indwelling catheter for urinary retention, gait aids for mobility, etc.) and genetic counselling 2. However, due to frequent misdiagnosis, many patients are initiated on treatments for other conditions (e.g. pharmacotherapy for benign prostatic hyperplasia or immunosuppressive therapy for multiple sclerosis) 4."
"causes of cerebral small vessel disease (e.g. CADASIL)"