Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats.

ABSTRACT:

Background

Few adequately-powered studies have systematically evaluated brain morphology in adult-onset myotonic dystrophy type 1 (DM1).

Objective

The goal of the present study was to determine structural brain differences between individuals with and without adult-onset DM1 in a multi-site, case-controlled cohort. We also explored correlations between brain structure and CTG repeat length.

Methods

Neuroimaging data was acquired in 58 unaffected individuals (29 women) and 79 individuals with DM1 (50 women). CTG repeat length, expressed as estimated progenitor allele length (ePAL), was determined by small pool PCR. Statistical models were adjusted for age, sex, site, and intracranial volume (ICV).

Results

ICV was reduced in DM1 subjects compared with controls. A

SUBMITTER: van der Plas E 

PROVIDER: S-EPMC7480174 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature