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OBJECTIVES Although sleep disturbances are common in myotonic dystrophy type 1 (DM1), sleep disturbances in myotonic dystrophy type 2 (DM2) have not been well-characterized. We aimed to determine the frequency of sleep disturbances in DM2. METHODS We conducted a case-control study of 54 genetically confirmed DM2 subjects and 104 medical controls without(More)
OBJECTIVE The aims of the study were: (1) to evaluate subjective sleep quality and daytime sleepiness in patients affected by sporadic inclusion-body myositis (IBM); (2) to define the sleep and sleep-related respiratory pattern in IBM patients. METHODS Thirteen consecutive adult patients affected by definite IBM were enrolled, six women and seven men,(More)
Chronic insomnia is highly prevalent in the general population, provoking personal distress and increased risk for psychiatric and medical disorders. Autonomic hyper-arousal could be a pathogenic mechanism of chronic primary insomnia. The aim of this study was to investigate autonomic activity in patients with chronic primary insomnia by means of heart rate(More)
Pycnodysostosis (OMIM:265800) is an autosomal recessive genetic disorder due to a mutation in the cathepsin K gene, which causes a decrease of the bone turnover and a deterioration of the bone structure. Our aim was to describe a 5 year-old patient affected by pycnodysostosis, associated with an extremely severe obstructive sleep apnea syndrome, who was(More)
In this study we report the results of surgery in a large population of patients affected by drug-resistant focal sleep related epilepsy (SRE) and the identified prognostic factors. We conducted a retrospective analysis of a case series of 955 patients operated on for drug-resistant focal epilepsy from 1997 to 2009. Ninety-five patients with focal SRE and a(More)
STUDY OBJECTIVES To evaluate the sleep pattern and the motor activity during sleep in a cohort of patients affected by Huntington disease (HD). DESIGN Cross-sectional cohort study. SETTING Sleep laboratory. PATIENTS Thirty HD patients, 16 women and 14 men (mean age 57.3 ± 12.2 y); 30 matched healthy controls (mean age 56.5 ± 11.8 y). INTERVENTIONS(More)
STUDY OBJECTIVES Chiari malformation Type I (CM-I) has been associated with sleep disordered breathing (SDB). The aim of this study was to evaluate the prevalence of SDB in CM-I and its clinical correlates in a population of children and adolescents. METHODS Fifty-three consecutive children and adolescents affected by CM-I were enrolled (27 girls and 26(More)
OBJECTIVES This is an observational study aimed to investigate the activity of autonomic nervous system during sleep in patients with sleep-related migraine. METHODS Eight consecutive migraineurs without aura were enrolled (6 women and 2 men), aged 30 to 62 years (mean 48.1 ± 9.3 years). Inclusion criteria were: high frequency of attacks (> 5 per month)(More)
The aim of the present study was to explore the modifications of scalp EEG power spectra and EEG connectivity during the autobiographical memory test (AM-T) and during the retrieval of an autobiographical event (the high school final examination, Task 2). Seventeen healthy volunteers were enrolled (9 women and 8 men, mean age 23.4 ± 2.8 years, range 19–30).(More)
The aim of this study was to verify if hyoid myotomy without hyoid suspension is effective in surgical treatment of obstructive sleep apnoea syndrome (OSAS). We recruited six patients with OSAS, aged between 34 to 60 years, with retropalatal and retrolingual upper airway obstruction, non-obese (BMI < 27) and non-compliant to continuous positive airway(More)