title: Brain MRI abnormalities in the adult form of myotonic dystrophy type 1: A longitudinal case series study.
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.
authors.affiliation: Institute for Diagnosis and Care "Hermitage Capodimonte", Italy; Department of Clinical and Experimental Medicine, Second University of Naples, Italy renata.conforti@unina2.it.
authors.forename: Renata
authors.initials: R
authors.lastname: Conforti
authors.affiliation: Department of Neurological Sciences, Second University of Naples, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: de Cristofaro
authors.affiliation: Department of Medicine and Health Sciences "Vincenzo Tiberio", University of Molise, Italy.
authors.forename: Adriana
authors.initials: A
authors.lastname: Cristofano
authors.affiliation: Institute for Diagnosis and Care "Hermitage Capodimonte", Italy; Department of Clinical and Experimental Medicine, Second University of Naples, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Brogna
authors.affiliation: Institute for Diagnosis and Care "Hermitage Capodimonte", Italy; Department of Clinical and Experimental Medicine, Second University of Naples, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Sardaro
authors.affiliation: Department of Neurological Sciences, Second University of Naples, Italy.
authors.forename: Gioacchino
authors.initials: G
authors.lastname: Tedeschi
authors.affiliation: Institute for Diagnosis and Care "Hermitage Capodimonte", Italy; Department of Clinical and Experimental Medicine, Second University of Naples, Italy.
authors.forename: Sossio
authors.initials: S
authors.lastname: Cirillo
authors.affiliation: Department of Medicine and Health Sciences "Vincenzo Tiberio", University of Molise, Italy.
authors.forename: Alfonso
authors.initials: A
authors.lastname: Di Costanzo
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology*; D002648:Child; D018450:Disease Progression; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000235:genetics* / Q000473:pathology*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D055815:Young Adult
keywords: Brain; magnetic resonance imaging; myotonic dystrophy type 1; white matter disease