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Journal of Neurology
Published in: Journal of Neurology 11/2006

01-11-2006 | ORIGINAL COMMUNICATION

Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities

Authors: Antonio Giorgio, MD, Maria T. Dotti, MD, Marco Battaglini, MSc, Silvia Marino, MD, Marzia Mortilla, MD, Maria L. Stromillo, MD, Placido Bramanti, MD, Alfredo Orrico, MD, Antonio Federico, MD, Nicola De Stefano, MD

Published in: Journal of Neurology | Issue 11/2006

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Abstract

Objective

To evaluate, by using quantitative MRI metrics, subtle cortical changes in brains of patients with the adult form of myotonic dystrophy type I (DM1) who showed no or minimal abnormalities on MRI.

Background

DM1 is an autosomal dominant multisystem disorder caused by the expansion of CTG repeats in the myotonic dystrophy-protein kinase gene. Mild to severe involvement of the CNS can be part of the clinical features of the disease. Several MRI studies have demonstrated that both focal white matter (WM) lesions and diffuse grey matter atrophy can be found in the brains of DM1 patients. However, whether these two processes are related or may occur independently is not clear.

Design/Methods

Ten genetically-proven DM1 patients who showed no or minimal abnormalities on MRI underwent a new brain MRI examination to obtain computerized measures of total and regional brain volumes normalized to head size and regional measurements of the magnetization transfer ratio (MTr).

Results

Normalized brain volumes (NBV) were significantly (p < 0.0001) lower in DM1 subjects than in a group of age- and sex-matched normal controls. Normalized cortical volumes (NCV) also were lower (p = 0.003) in DM1 subjects than in normal controls, whereas normalized WM volumes were not different between the two groups (p = 0.3). In agreement with this, values of MTr in the neocortex (cortical-MTr) were significantly (p = 0.006) lower in DM1 patients than in normal controls and this difference was not found in the WM tissue (p = 0.8).

Conclusions

Neocortical damage seems to be evident in the absence of visible WM lesions suggesting that a neocortical pathology, unrelated to WM lesion formation, occurs in DM1 brains.
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Metadata
Title
Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities
Authors
Antonio Giorgio, MD
Maria T. Dotti, MD
Marco Battaglini, MSc
Silvia Marino, MD
Marzia Mortilla, MD
Maria L. Stromillo, MD
Placido Bramanti, MD
Alfredo Orrico, MD
Antonio Federico, MD
Nicola De Stefano, MD
Publication date
01-11-2006
Publisher
Steinkopff-Verlag
Published in
Journal of Neurology / Issue 11/2006
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-006-0248-2

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