Pathophysiological mechanisms underlying the clinically devastating CNS features of myotonic dystrophy (DM) remain more enigmatic and controversial than do the muscle abnormalities of this common form of muscular dystrophy. To better define CNS and cranial muscle changes in DM, we used quantitative volumetric and diffusion tensor MRI methods to measure cerebral and masticatory muscle differences between controls (n= 5) and adults with either congenital (n= 5) or adult onset (n= 5) myotonic dystrophy type 1 and myotonic dystrophy type 2 (n= 5). Muscle volumes were diminished in DM1 and strongly correlated with reduced white matter integrity and gray matter volume. Moreover, correlation of reduced fractional anisotropy (white matter integrity) and gray matter volume in both DM1 and DM2 suggests that these abnormalities may share a common underlying pathophysiological mechanism. Further quantitative temporal and spatial characterization of these features will help delineate developmental and progressive neurological components of DM, and help determine the causative molecular and cellular mechanisms.
Bibliographical noteFunding Information:
We are grateful for ongoing involvement of many families and patients in these studies, and for support from the National Registry of FSHD and DM patients and Families at University of Rochester (NIAMS: N01AR52274-7-0-1 ) and the Myotonic Dystrophy Foundation for help in subject recruitment, the NIH/NINDS ( R01NS056592-03 ; P01-NS058901 ) for direct support of this research, NIH for core muscle laboratory support ( P30 AR057220 ), and core support for the Neuroscience Magnetic Resonance Research Centers (P30 NS057091 and P41 RR008079)and the MDA for core clinical support.
Copyright 2012 Elsevier B.V., All rights reserved.
- Cerebral gray matter
- Cerebral white matter
- Craniofacial muscle
- Diffusion tensor imaging
- Magnetic resonance imaging
- Myotonic dystrophy