title: MRI findings and cognitive functions in a small cohort of myotonic dystrophy type 1: Retrospective analyses.
abstract: 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.
authors.affiliation: 1 Bakirkoy Dr. Sadi Konuk Research and Training Hospital, Department of Neurology, Istanbul, Turkey.
authors.forename: Arsida
authors.initials: A
authors.lastname: Bajrami
authors.affiliation: 1 Bakirkoy Dr. Sadi Konuk Research and Training Hospital, Department of Neurology, Istanbul, Turkey.
authors.forename: Filiz
authors.initials: F
authors.lastname: Azman
authors.affiliation: 1 Bakirkoy Dr. Sadi Konuk Research and Training Hospital, Department of Neurology, Istanbul, Turkey.
authors.forename: Vildan
authors.initials: V
authors.lastname: Yayla
authors.affiliation: 1 Bakirkoy Dr. Sadi Konuk Research and Training Hospital, Department of Neurology, Istanbul, Turkey.
authors.forename: Sultan
authors.initials: S
authors.lastname: Cagirici
authors.affiliation: 2 Bakırköy Dr. Mazhar Osman Training and Research Hospital for Psychiatric, Neurologic and Neurosurgical Diseasesm Department of Neuropsychology, Istanbul, Turkey.
authors.forename: Cahit
authors.initials: C
authors.lastname: Keskinkiliç
authors.affiliation: 1 Bakirkoy Dr. Sadi Konuk Research and Training Hospital, Department of Neurology, Istanbul, Turkey.
authors.forename: Nejla
authors.initials: N
authors.lastname: Sozer
mesh_terms: D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging*; D003072:Cognition Disorders / Q000000981:diagnostic imaging* / Q000209:etiology*; D015331:Cohort Studies; D004576:Electromyography; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000150:complications* / Q000235:genetics; D009483:Neuropsychological Tests; D012720:Severity of Illness Index; D055815:Young Adult
keywords: Cranial MRI; myotonic dystrophy; white-matter hyperintense lesions