The Columbia University team publishes data collected since 2014 in the Columbia University APBD Registry (CAP ) and filled in by patients with adult polyglucosan disease:
- out of 126 respondents, 96 met the inclusion criteria: being 18 years of age or older and presenting with a progressive triad of peripheral neuropathy, spasticity and neurologic bladder ;
- the median age at onset of the disease was 51, with an age at diagnosis of 57;
- peripheral neuropathy and spinal stenosis were the most common misdiagnoses;
- Most were of Ashkenazi Jewish origin (85.1%).
The aim is to set up a prospective natural history study of this ultra-rare disease and to identify key follow-up parameters for evaluating future treatments.
APBD Research Foundation [Online] [Visited on 29/03/2024]
