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Brain MRI abnormalities in the adult form of myotonic dystrophy type 1: A longitudinal case series study
Renata Conforti1, Mario de Cristofaro2, Adriana Cristofano3
1Institute for Diagnosis and Care "Hermitage Capodimonte", Italy; Department of Clinical and Experimental Medicine, Second University of Naples, Italy renata.conforti@unina2.it.
Abstract:
This study aimed to verify whether brain abnormalities, previously described in patients with myotonic dystrophy type 1 (DM1) by magnetic resonance imaging (MRI), progressed over time and, if so, to characterize their progression. Thirteen DM1 patients, who had at least two MRI examinations, were retrospectively evaluated and included in the study. The mean duration (± standard deviation) of follow-up was 13.4 (±3.8) years, over a range of 7-20 years. White matter lesions (WMLs) were rated by semi-quantitative method, the signal intensity of white matter poster-superior to trigones (WMPST) by reference to standard images and brain atrophy by ventricular/brain ratio (VBR). At the end of MRI follow-up, the scores relative to lobar, temporal and periventricular WMLs, to WMPST signal intensity and to VBR were significantly increased compared to baseline, and MRI changes were more evident in some families than in others. No correlation was found between the MRI changes and age, onset, disease duration, muscular involvement, CTG repetition and follow-up duration. These results demonstrated that white matter involvement and brain atrophy were progressive in DM1 and suggested that progression rate varied from patient to patient, regardless of age, disease duration and genetic defect.
Insights
Brain abnormalities in myotonic dystrophy type 1 (DM1) patients worsen over time, as shown by serial MRI scans. White matter lesions and brain atrophy progress, with varying rates between individuals.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Myotonic dystrophy type 1 (DM1) is a multisystem disorder associated with neurological complications.
- Previous magnetic resonance imaging (MRI) studies have identified brain abnormalities in DM1 patients.
Observation:
- This study retrospectively analyzed MRI scans from 13 DM1 patients with a mean follow-up of 13.4 years.
- Evaluated parameters included white matter lesions (WMLs), white matter poster-superior to trigones (WMPST) signal intensity, and brain atrophy via ventricular/brain ratio (VBR).
Findings:
- Significant increases in WMLs (lobar, temporal, periventricular), WMPST signal intensity, and VBR were observed over the follow-up period.
- MRI changes progressed independently of patient age, disease duration, muscular involvement, CTG repeat length, or follow-up duration.
- Progression rates of brain abnormalities varied among DM1 patients and families.
Implications:
- Brain atrophy and white matter changes are progressive features of DM1.
- The variable progression rate suggests patient-specific factors influence disease course.
- Longitudinal MRI monitoring is crucial for understanding DM1 neurological progression.
