Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.

ABSTRACT:

Objective

To describe the spectrum of brain MRI findings in a cohort of individuals with dystroglycanopathies (DGs) and relate MRI results to function.

Methods

All available brain MRIs done for clinical indications on individuals enrolled in a DG natural history study (NCT00313677) were reviewed. Reports were reviewed when MRI was not available. MRIs were categorized as follows: (1) cortical, brainstem, and cerebellar malformations; (2) cortical and cerebellar malformations; or (3) normal. Language development was assigned to 1 of 3 categories by a speech pathologist. Maximal motor function and presence of epilepsy were determined by history or examination.

Results

Twenty-five MRIs and 9 reports were reviewed. The most common MRI abnormalities were cobblestone cortex

SUBMITTER: Brun BN 

PROVIDER: S-EPMC5317381 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature