Myotonic dystrophy type 1 (DM1) is a progressive multisystemic disease with common cognitive deficits and potential brain involvement in addition to the cardinal muscular and systemic symptoms. Impaired mental function associated with nonspecific pathological findings such as white-matter hyperintense lesions (WMHLs), ventricular enlargement and brain atrophy on brain MRI have been previously reported in DM1 patients. While some studies showed correlation of brain morphological changes with neuropsychological and clinical parameters including CTG repeat sizes and disease severity scales in DM1, others failed. The goal of this study was to retrospectively investigate cranial MR abnormalities, predominantly WMHLs, and their effects on clinical and cognitive deficits in a small, phenotypically or genotypically well-characterized cohort of DM1 patients.
TurnerCHilton-JonesD. The myotonic dystrophies: Diagnosis and management. J Neurol Neurosurg Psychiatry2010; 81: 358–367.
2.
MeolaGSansoneV. Cerebral involvement in myotonic dystrophies. Muscle Nerve2007; 36: 294–306.
3.
VermerschPSergeantNRuchouxMM. Specific tau variants in the brains of patients with myotonic dystrophy. Neurology1996; 47: 711–717.
4.
SergeantNSablonniereBSchraen-MaschkeS. Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum Mol Genet2001; 10: 2143–2155.
5.
ItohKMitaniMKawamotoK. Neuropathology does not correlate with regional differences in the extent of expansion of CTG repeats in the brain with myotonic dystrophy type 1. Acta Histochem Cytochem2010; 43: 149–156.
6.
HuberSJKisselJTShuttleworthEC. Magnetic resonance imaging and clinical correlates of intellectual impairment in myotonic dystrophy. Arch Neurol1989; 46: 536–540.
7.
BachmannGDamianMSKochM. The clinical and genetic correlates of MRI findings in myotonic dystrophy. Neuroradiology1996; 38: 629–635.
8.
RomeoVPegoraroEFerratiC. Brain involvement in myotonic dystrophies: Neuroimaging and neuropsychological comparative study in DM1 and DM2. J Neurol2010; 257: 1246–1255.
9.
OtaMSatoNOhyaY. Relationship between diffusion tensor imaging and brain morphology in patients with myotonic dystrophy. Neurosci Lett2006; 407: 234–239.
10.
WozniakJRMuellerBALimKO. Tractography reveals diffuse white matter abnormalities in myotonic dystrophy type 1. J Neurol Sci2014; 341: 73–78.
11.
DineenRAVilisaarJHlinkaJ. Disconnection as a mechanism for cognitive dysfunction in multiple sclerosis. Brain2009; 132: 239–249.
12.
MinneropMWeberBSchoene-BakeJC. The brain in myotonic dystrophy 1 and 2: Evidence for a predominant white matter disease. Brain2011; 134(Pt 12): 3530–3546.
13.
CasoFAgostaFPericS. Cognitive impairment in myotonic dystrophy type 1 is associated with white matter damage. PloS One2014; 9: e104697.
14.
MathieuJBoivinHMeunierD. Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy. Neurology2001; 56: 336–340.
15.
WahlundLOBarkhofFFazekasF. A new rating scale for age-related white matter changes applicable to MRI and CT. Stroke2001; 32: 1318–1322.
16.
AbeKFujimuraHToyookaK. Involvement of the central nervous system in myotonic dystrophy. J Neurol Sci1994; 127: 179–185.
17.
MeolaGSansoneVPeraniD. Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2). Neuromuscul Disord2003; 13: 813–821.
18.
OgataATeraeSFujitaM. Anterior temporal white matter lesions in myotonic dystrophy with intellectual impairment: An MRI and neuropathological study. Neuroradiology1998; 40: 411–415.
19.
Di CostanzoADi SalleFSantoroL. Pattern and significance of white matter abnormalities in myotonic dystrophy type 1: An MRI study. J Neurol2002; 249: 1175–1182.
20.
NakaHImonYOhshitaT. Magnetization transfer measurements of cerebral white matter in patients with myotonic dystrophy. J Neurol Sci2002; 193: 111–116.
21.
RomeoVPegoraroEFerratiC. Brain involvement in myotonic dystrophies: Neuroimaging and neuropsychological comparative study in DM1 and DM2. J Neurol2010; 257: 1246–1255.
22.
FrancDTMuetzelRLRobinsonPR. Cerebral and muscle MRI abnormalities in myotonic dystrophy. Neuromuscul Disord2012; 22: 483–491.
23.
WozniakJRMuellerBAWardEE. White matter abnormalities and neurocognitive correlates in children and adolescents with myotonic dystrophy type 1: A diffusion tensor imaging study. Neuromuscul Disord2011; 21: 89–96.
