Natural History of Vanishing White Matter.

ABSTRACT:

Objective

To comprehensively describe the natural history of vanishing white matter (VWM), aiming at improving counseling of patients/families and providing natural history data for future therapeutic trials.

Methods

We performed a longitudinal multicenter study among 296 genetically confirmed VWM patients. Clinical information was obtained via disease-specific clinical questionnaire, Health Utilities Index and Guy's Neurological Disability Scale assessments, and chart review.

Results

First disease signs occurred at a median age of 3 years (mode = 2 years, range = before birth to 54 years); 60% of patients were symptomatic before the age of 4 years. The nature of the first signs varied for different ages of onset. Overall, motor problems were the most common presentin

SUBMITTER: Hamilton EMC 

PROVIDER: S-EPMC6175238 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature