Gray Matter Abnormalities in Myotonic Dystrophy Type 1: A Voxel-Wise Meta-Analysis

Area of Science:

• Neuroimaging
• Neurology
• Genetics

Background:

• Myotonic dystrophy type 1 (DM1) is increasingly recognized to affect the brain.
• Previous voxel-based morphometry (VBM) studies show varied gray matter (GM) abnormalities in DM1 patients.
• Consistent GM changes in DM1 require integrated analysis.

Purpose of the Study:

• To perform a meta-analysis of VBM studies to identify consistent GM changes in DM1.
• To correlate regional GM abnormalities with clinical factors.

Main Methods:

• Systematic literature search of Web of Science, Pubmed, and Embase databases.
• Meta-analysis of voxel-based morphometry data using Seed-based d Mapping with Permutation of Subject Images (SDM-PSI) software.
• Meta-regression analysis to explore associations with disease duration and cognitive scores.

Main Results:

• Eight VBM studies were included, comprising 176 DM1 patients and 198 healthy controls.
• Significant reductions in GM volume were observed in DM1 patients across multiple brain regions, including motor, sensory, and associative areas.
• GM abnormalities correlated with disease duration and Rey-Osterrieth Complex Figure (ROCF)-recall scores.

Conclusions:

• Myotonic dystrophy type 1 (DM1) is a multisystem disorder impacting brain regions involved in motor and neuropsychiatric functions.
• Consistent GM reductions provide a basis for understanding the pathophysiology of DM1.
• Brain alterations in DM1 are linked to disease progression and cognitive deficits.