Brain MRI Abnormalities in the Adult Form of Myotonic Dystrophy Type 1: A Longitudinal Case Series Study

Overview

Journal Neuroradiol J

Publisher Sage Publications

Specialties Neurology
Radiology

Date 2016 Jan 13

PMID 26755488

Citations 18

Authors

Renata Conforti

Mario de Cristofaro

Adriana Cristofano

Barbara Brogna

Angela Sardaro

Gioacchino Tedeschi

Sossio Cirillo

Alfonso di Costanzo

Affiliations

Soon will be listed here.

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.

Citing Articles

Transcranial brain parenchyma sonographic findings in patients with myotonic dystrophy type 1 and 2.

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Longitudinal changes in white matter as measured with diffusion tensor imaging in adult-onset myotonic dystrophy type 1.

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Loss of MBNL1-mediated retrograde BDNF signaling in the myotonic dystrophy brain.

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Fluid Biomarkers of Central Nervous System (CNS) Involvement in Myotonic Dystrophy Type 1 (DM1).

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Unravelling the impact of frontal lobe impairment for social dysfunction in myotonic dystrophy type 1.

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