Vesna Ralić

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INTRODUCTION In this study we analyzed transcranial sonography (TCS) in patients with myotonic dystrophy type 1 (DM1). METHODS This cross-sectional study included 66 DM1 patients and 55 matched healthy controls (HCs). Echogenicity of the brainstem raphe (BR) and substantia nigra (SN) and third ventricle width (DTV) were assessed by TCS. RESULTS BR(More)
OBJECTIVE To assess an impact of cognitive and behavioral impairment on QoL in a larger cohort of patients with DM1. METHODS Sixty six genetically confirmed DM1 patients (22 with juvenile (jDM1) and 44 with adult form (aDM1) of the disease) were recruited. Following behavioral tests were used: Hamilton scales for depression and anxiety (HamD and HamA),(More)
INTRODUCTION The aim of this study was to assess the frequency and features of metabolic syndrome (MetS) in myotonic dystrophy type 1 (DM1). METHODS We studied 66 DM1 patients (50% men, aged 41.9 ± 10.5 years, disease duration of 19.3 ± 8.6 years). New worldwide consensus criteria for MetS from 2009 were used. RESULTS Components of MetS were present at(More)
BACKGROUND Myotonic dystrophy type 1 (DM1) is a rare disease. Creating registry for such a disease is of outstanding importance since it provides us with a full spectrum of the disorder. AIM To assess variability of different multisystemic features in a large cohort of patients with DM1. PATIENTS AND METHOD Data from the Serbian registry for myotonic(More)
BACKGROUND Mutations in GNAL (DYT25) have recently been established as the first confirmed cause of focal or segmental adult-onset dystonia. Mutation carriers show craniocervical involvement; however, the GNAL mutational and phenotypic spectrum remain to be further characterized, and guidelines for diagnostic testing need to be established. METHODS The(More)
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults [1]. There have been previous reports of DM1 in association with different tumors, such as pilomatrixoma, basal cell carcinoma, thymoma, endocrine tumors, parotid tumor, cancer of larynx, ovary and the testicle, choroidal melanoma, and brain tumors [2]. Two large studies(More)
Huntington disease (HD), the most common inherited cause of chorea, is an autosomal dominant disorder, caused by an expanded trinucleotide CAG repeat (>39) in the HTT gene on chromosome 4p16.3. Among patients diagnosed as HD solely on clinical grounds, a certain number was negative on genetic testing for HD. Therefore, HD-like disorders comprised a number(More)
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