Cerebral and muscle MRI abnormalities in myotonic dystrophy

Daniel T. Franc; Ryan L. Muetzel; Paul R. Robinson; Craig P. Rodriguez; Joline C. Dalton; Cameron E. Naughton; Bryon A. Mueller; Jeffrey R. Wozniak; Kelvin O. Lim; John W. Day

doi:10.1016/j.nmd.2012.01.003

Cerebral and muscle MRI abnormalities in myotonic dystrophy

Daniel T. Franc, Ryan L. Muetzel, Paul R. Robinson, Craig P. Rodriguez, Joline C. Dalton, Cameron E. Naughton, Bryon A. Mueller, Jeffrey R. Wozniak, Kelvin O. Lim, John W. Day

Psychiatry & Behavioral Sciences

Research output: Contribution to journal › Article › peer-review

51 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	483-491
Number of pages	9
Journal	Neuromuscular Disorders
Volume	22
Issue number	6
DOIs	https://doi.org/10.1016/j.nmd.2012.01.003
State	Published - Jun 2012

Bibliographical note

Funding 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.

Keywords

Cerebral gray matter
Cerebral white matter
Craniofacial muscle
DM
DM1
DM2
Diffusion tensor imaging
MRI
Magnetic resonance imaging
Masseter
Myotonic dystrophy
Pterygoid
Temporalis

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title = "Cerebral and muscle MRI abnormalities in myotonic dystrophy",

abstract = "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.",

keywords = "Cerebral gray matter, Cerebral white matter, Craniofacial muscle, DM, DM1, DM2, Diffusion tensor imaging, MRI, Magnetic resonance imaging, Masseter, Myotonic dystrophy, Pterygoid, Temporalis",

author = "Franc, {Daniel T.} and Muetzel, {Ryan L.} and Robinson, {Paul R.} and Rodriguez, {Craig P.} and Dalton, {Joline C.} and Naughton, {Cameron E.} and Mueller, {Bryon A.} and Wozniak, {Jeffrey R.} and Lim, {Kelvin O.} and Day, {John W.}",

note = "Funding 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.",

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AU - Muetzel, Ryan L.

AU - Robinson, Paul R.

AU - Rodriguez, Craig P.

AU - Dalton, Joline C.

AU - Naughton, Cameron E.

AU - Mueller, Bryon A.

AU - Wozniak, Jeffrey R.

AU - Lim, Kelvin O.

AU - Day, John W.

N1 - Funding 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.

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N2 - 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.

AB - 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.

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Cerebral and muscle MRI abnormalities in myotonic dystrophy

Abstract

Bibliographical note

Keywords

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