Biomedical subjects

Federica Provini

Publications and source records attributed to Federica Provini.

At least 19 recordsLinked to original sources

PubMed2007

Augmentation of restless legs syndrome with long-term tramadol treatment.

Restless legs syndrome (RLS) augmentation, defined as a kind of suppression of the circadian rhythm of the disease in which sensory and motor symptoms appear earlier during the day (and over previously unaffected body parts), with a progressive phase advance until, backwards, the symptoms may cover the entire day, has been described only after treatment with dopaminergic drugs. We report clinical and polysomnographic accounts of a patient developing RLS augmentation after long-term treatment with tramadol, an opioid agonist with selectivity for mu-receptor and added norepinephrine and serotonin reuptake inhibition properties. Polysomnographic measures showed an improvement of RLS and a disappearance of diurnal sensory and motor RLS symptoms after tramadol was stopped. Our case confirms a recent retrospective report of augmentation of RLS after treatment with tramadol, and begs the question whether augmentation is truly restricted to dopaminergic drugs.

Aged, 80 and over↗

PubMed2007

Family-based association study of the restless legs syndrome loci 2 and 3 in a European population.

Three loci for the restless legs syndrome (RLS) on chromosomes 12q, 14q, and 9p (RLS1, RLS2, and RLS3) have been mapped, but no gene has been identified as yet. RLS1 has been confirmed in families from three different populations. We conducted a family-based association study of 159 European RLS trios. The subjects were genotyped using microsatellite markers evenly covering the candidate regions on chromosomes 14q and 9p with an average intermarker distance of 1.1 cM. Transmission disequilibrium tests were used to analyze the data, and empirical P values were estimated by permutation testing. On chromosome 14q, a significant association (empirical P = 0.0033) was found with a haplotype formed by markers D14S1014 and D14S1017 when analyzing all families. On chromosome 9p, no significant association in the sample of all families and only marginally significant associations were detected, with a haplotype involving markers D9S1846-D9S171 in a subset of South European trios and with a haplotype at D9S156-D9S157 in a subset of Central European trios (P = 0.0086 and 0.0077, respectively). These results represent the first confirmation of these loci in a mixed European population. Variable results observed in families of different ethnic groups further corroborate the genetic complexity of RLS.

Chromosomes, Human, Pair 12↗

PubMed2006

A wavelet based method for automatic detection of slow eye movements: a pilot study.

Electro-oculographic (EOG) activity during the wake-sleep transition is characterized by the appearance of slow eye movements (SEM). The present work describes an algorithm for the automatic localisation of SEM events from EOG recordings. The algorithm is based on a wavelet multiresolution analysis of the difference between right and left EOG tracings, and includes three main steps: (i) wavelet decomposition down to 10 detail levels (i.e., 10 scales), using Daubechies order 4 wavelet; (ii) computation of energy in 0.5s time steps at any level of decomposition; (iii) construction of a non-linear discriminant function expressing the relative energy of high-scale details to both high- and low-scale details. The main assumption is that the value of the discriminant function increases above a given threshold during SEM episodes due to energy redistribution toward higher scales. Ten EOG recordings from ten male patients with obstructive sleep apnea syndrome were used. All tracings included a period from pre-sleep wakefulness to stage 2 sleep. Two experts inspected the tracings separately to score SEMs. A reference set of SEM (gold standard) were obtained by joint examination by both experts. Parameters of the discriminant function were assigned on three tracings (design set) to minimize the disagreement between the system classification and classification by the two experts; the algorithm was then tested on the remaining seven tracings (test set). Results show that the agreement between the algorithm and the gold standard was 80.44+/-4.09%, the sensitivity of the algorithm was 67.2+/-7.37% and the selectivity 83.93+/-8.65%. However, most errors were not caused by an inability of the system to detect intervals with SEM activity against NON-SEM intervals, but were due to a different localisation of the beginning and end of some SEM episodes. The proposed method may be a valuable tool for computerized EOG analysis.

Adult↗

PubMed2006

Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies.

Knowing how and when the degenerative process starts is important in neurodegenerative diseases. We have addressed this issue in fatal familial insomnia (FFI) measuring the cerebral metabolic rate of glucose (CMRglc) with 2-[18F]fluoro-2-deoxy-D-glucose PET in parallel with detailed clinical, neuropsychological examinations and polysomnography with EEG spectral analyses. Nine asymptomatic carriers of the D178N mutation, 10 non-carriers belonging to the same family, and 19 age-matched controls were studied over several years. The CMRglc as well as clinical and electrophysiological examinations were normal in all cases at the beginning of the study. Four of the mutation carriers developed typical FFI during the study but CMRglc and the clinical and electrophysiological examinations remained normal 63, 56, 32 and 21 months, respectively before disease onset. The carrier whose tests were normal 32 months before disease onset was re-examined 13 months before the onset. At that time, selective hypometabolism was detected in the thalamus while spectral-EEG analysis disclosed an impaired thalamic sleep spindle formation. Following clinical disease onset, CRMglc was reduced in the thalamus in all 3 patients examined. Our data indicate that the neurodegenerative process associated with FFI begins in the thalamus between 13 and 21 months before the clinical presentation of the disease.

Adult↗

PubMed2006

Polysomnographic and pharmacokinetic findings in levodopa-induced augmentation of restless legs syndrome.

Augmentation, defined as a loss of circadian recurrence with progressively earlier daily onset and increase in the duration, intensity, and anatomy of symptoms, not compatible with the half-life of the drug, is associated with dopaminergic treatment in restless legs syndrome (RLS) patients. The pathogenesis of augmentation is unclear. We describe a patient with idiopathic RLS who developed augmentation after 8 months of levodopa treatment. Videopolysomnographic and pharmacokinetic studies with monitoring of plasma levodopa levels demonstrated marked motor hyperactivity during augmentation, with anarchic discharges of motor unit potentials, tonic grouped discharges and flexor spasms, associated with painful dysesthesia. Symptoms and signs of augmentation were related to low plasma levodopa levels, abating 75 minutes after oral levodopa administration and reappearing after 3 hours, closely mirroring the rapid rise and fall of plasma levodopa concentration. This case is the first report in which RLS augmentation is shown to be characterized by motor hyperkinesias paralleling levodopa plasma pharmacokinetic profile.

Aged↗

PubMed2006

Nocturnal eating: sleep-related eating disorder or night eating syndrome? A videopolysomnographic study.

STUDY OBJECTIVES: To describe the clinical and videopolysomnographic characteristics of nocturnal eating episodes in sleep-related eating disorder. DESIGN: Descriptive study of outpatients prospectively enrolled in 2 sleep centers. SETTING: Videopolysomnographic recordings done in the sleep laboratory. PATIENTS: Thirty-five consecutive drug-free patients with nocturnal eating. INTERVENTIONS: N/A. MEASUREMENTS AND RESULTS: Clinical interviews disclosed abnormal compulsory nocturnal eating episodes in all patients associated with a clinical report of sleepwalking (in 1), somniloquy (in 5), restless legs syndrome (in 8), and periodic limb movements during sleep (in 4). Videopolysomnography documented 45 episodes of nocturnal eating in 26 patients. Eating always occurred after complete awakenings from non-rapid eye movement sleep and only in 1 patient from REM sleep and was characterized by electroencephalographic alpha activity with no dissociated features of state-dependent sleep variables. Patients interviewed during the eating episodes were fully conscious and remembered the events the next day. Pathological periodic limb movements during sleep index was recorded in 22 and restless legs syndrome dyskinesias in 5 patients. Recurring chewing and swallowing movements during sleep were a feature in 29 patients, associated in about half of the events with electroencephalographic arousals. CONCLUSIONS: In our patients, eating episodes occurred with normal consciousness and recall. Chewing or swallowing movements during sleep occurred frequently, resembling rhythmic masticatory-muscle activity in bruxism patients. The presence of periodic limb movements during sleep and chewing activity, the reported efficacy of dopaminergic medications, and the compulsory food-seeking behavior all argue for a dopaminergic dysfunction underlying the pathogenesis of sleep-related eating disorder.

Adult↗

PubMed2006

Restless legs syndrome and periodic limb movements.

The history, clinical aspects, and treatment of restless legs syndrome (RLS), a heterogeneous distressing sensorimotor disorder, and periodic limb movements (PLMs) that are the typical motor accompaniment of the syndrome, are described. A positive family history, a positive response to dopaminergic treatment, and the presence of PLM while awake or asleep are supportive criteria for the diagnosis of the disorder. RLS and PLM occur more frequently at the beginning of night and exponentially decline across sleep cycles, suggesting circadian influences. Altered circadian rhythmicity in dopamine metabolism and enhanced circadian variations in dopaminergic functions have been reported in the disorder. Dysfunction or atrophy of A11 cells from the diencephalic-spinal dopamine A11 system has been suggested to explain the efficacy of dopaminergic drugs in relieving RLS symptoms and the circadian rhythmicity of RLS. Studies support the hypothesis that the A11 dopaminergic neurons and spinal pathways may be more involved in the pathophysiology of RLS than the nigrostriatal system. Neurophysiological evidence indicates that the involuntary movements in RLS may be of spinal or propriospinal origin. Despite these findings, however, the pathogenic mechanisms underlying the peculiar sensory and motor manifestations of RLS remain unexplained. Among the current treatment options offered for the treatment of RLS, dopaminergic agents have provided the best evidence for efficacy in symptom relief.

Circadian Rhythm↗

PubMed2005

Continuous motor unit activity syndromes: a video-polysomnographic study.

OBJECTIVE: To ascertain the presence of abnormalities of sleep in patients with continuous motor unit activity with and without symptoms of central nervous system involvement. METHODS: Five patients with isolated neuromyotonia (Isaacs' syndrome) and 1 patient with Morvan syndrome underwent 24-h videopolysomnographic recording to investigate sleep structure, motor activities and autonomic variables during sleep. RESULTS: Macro- and microstructural organization of sleep and of the attending autonomic variables were substantially normal in patients with Isaacs' syndrome. On the contrary, sleep structure was severely disrupted with subcontinuous dream enactment and hallucinations in the patient with Morvan syndrome. The pattern of the neuromyotonic discharges, however, was not different between the patients with Isaacs' syndrome compared to Morvan syndrome, the EMG discharges persisting throughout the 24 h of recording and affecting wakefulness and sleep equally. CONCLUSIONS: Neuromyotonia is compatible with normal organization of sleep. The severe sleep abnormalities observed in Morvan syndrome cannot be simply attributed to the effects of neuromyotonia of peripheral origin. SIGNIFICANCE: Even though neuromyotonia is common to both Isaacs' and Morvan syndromes, the two conditions differ significantly in regard to CNS involvement with sleep abnormalities and lumping the two conditions together is not justified on clinical and neurophysiological grounds.

Adolescent↗

PubMed2005

Interobserver reliability of ICSD-R minimal diagnostic criteria for the parasomnias.

OBJECTIVE: To estimate the interobserver reliability (IR) of the minimal diagnostic criteria for the parasomnias provided in the International Classification of Sleep Disorders Revised (ICSD-R). METHODS: Fifty consecutive subjects underwent a structured interview by three doctors based on the ICSD-R minimal criteria for the diagnosis of 13 parasomnias at any time in life. IR was calculated by Kappa statistics and interpreted according to conventional categories. RESULTS: In the group of Arousal Disorders, IR was "substantial" (kappa 0.74) for confusional arousals, "slight" (kappa 0.36) for sleepwalking, "fair" (kappa -0.02) for sleep terrors. In the group of Wake-Sleep Transition Disorders, IR was "substantial" to "almost perfect", but "moderate" for sleep starts (kappa 0.41). In the group of Parasomnias usually associated with REM Sleep, IR was "substantial" (kappa 0.69) for sleep paralysis, "moderate" (kappa 0.46) for RBD, "fair" (kappa 0.25) for nightmares. In the group of Other Parasomnias, IR was "substantial" to "almost perfect" (kappa between 0.73 and 0.93). CONCLUSIONS: When the clinical diagnosis of parasomnias is based on the ICSD-R: 1) the majority of Arousal Disorders and REM sleep parasomnias showed only a "fair" to "moderate" IR; 2) all of the other parasomnias showed a "substantial" to "almost perfect" IR. Nosological entities with unsatisfactory IR share complex motor phenomenology associated with a mental state difficult for the patient to define. The source of disagreement probably lies in the difficulty in interpreting patients' reports. For these parasomnias IR must be verified and possibly improved with training.

Adolescent↗

PubMed2005

Unusual nocturnal motor restlessness in a patient with spinocerebellar ataxia 3.

Video-polysomnographic monitoring of a female patient with spinocerebellar ataxia 3 (SCA-3) in whom rapid eye movement (REM) sleep behavior disorder was clinically suspected demonstrated recurrent episodes of unusual nocturnal motor restlessness occurring during non-REM sleep and severely disturbing both the patient and her bed partner's sleep. Even if nocturnal manifestations are common features of SCA-3 and increasingly recognized, such a case has never been reported before. We discuss this peculiar movement disorder as a particular manifestation of the wide spectrum of parasomnias occurring in such a rare neurodegenerative disease.

Adult↗

PubMed2005

Propriospinal myoclonus: a motor phenomenon found in restless legs syndrome different from periodic limb movements during sleep.

Three patients presented with a 25-, 15-, and 5-year history of restless legs syndrome (RLS) and periodic limb movements during sleep (PLMS). For 1, 4, and 5 years, they reported additional involuntary trunk and limbs jerks preceding falling asleep and occasionally during intrasleep wakefulness. Videopolysomnography revealed jerks during relaxed wakefulness arising in axial muscles with a caudal and rostral propagation at a slow conduction velocity, characteristic of propriospinal myoclonus (PSM). Jerk-related EEG-EMG back-averaging did not disclose any preceding cortical potential. During relaxed wakefulness preceding falling asleep and during intrasleep wakefulness, PSM coexisted with motor restlessness and sensory discomfort in the limbs. PSM disappeared when spindles and K-complexes appeared on the EEG. At this time, typical PLMS appeared every 20 to 40 seconds, especially during light sleep stages. PLMS EMG activity was limited to leg, especially tibialis anterior muscles, and did not show propriospinal propagation. In one patient, alternating leg muscle activation was also present. Jerks with a PSM pattern represent another motor phenomenon associated with RLS and different from the more usual PLMS.

Adult↗

PubMed2005

Insomnia in neurological diseases.

Insomnia is the most common sleep complaint. Insomnia is not a disease itself but mostly a clinical sign of an underlying disease. Degenerative and vascular diseases involving the central nervous system (CNS) may impair sleep either as a result of the brain lesion or because of illness-related discomfort (motor immobility, social and familial impairment, depression, drugs). Some neurological conditions characterized by movement disorders that start or persist during sleep hinder sleep onset and/or sleep continuity, causing a poor sleep complaint. CNS lesions and/or dysfunction in three specific neurological conditions (fatal familial insomnia, Morvan's chorea, and delirium tremens) impair the basic mechanisms of sleep generation inducing a syndrome in which the inability to sleep is consistently associated with motor and sympathergic overactivation. Agrypnia excitata is the term that aptly defines this generalized overactivation syndrome.

Humans↗

PubMed2004

Status dissociatus after surgery for tegmental ponto-mesencephalic cavernoma: a state-dependent disorder of motor control during sleep.

After surgery for a tegmental ponto-mesencephalic cavernoma, a patient developed sleep-related excessive fragmentary myoclonus, diffuse myoclonic jerks, simple quasipurposeful movements of the limbs, and rapid eye movement (REM) sleep behaviour disorder as motor features of status dissociatus, a condition in which elements of one state of being (wake, NREM and REM sleep) pathologically intrude into another.

Adult↗

PubMed2004

Sleep disorders in multiple system atrophy: a correlative video-polysomnographic study.

OBJECTIVE: The reciprocal relation between breathing, heart and motor system abnormalities during sleep was studied in multiple system atrophy (MSA) by means of video-polysomnographic recordings (VPSG). PATIENTS AND METHODS: Nineteen consecutive MSA patients underwent VPSG with scoring for sleep, respiratory abnormalities, heart (HR) and breathing (BR) rates, and abnormal motor activities. A comparative analysis was performed versus 10 patients with obstructive sleep apnoea syndrome (OSAS). RESULTS: All MSA patients displayed snoring, 42% stridor, and 37% OSAS. Mean sleep SaO(2) was 92.7%, and lowest SaO(2) 86%. Patients with stridor had a significant increase in BR from Wake to NREM and REM sleep, and higher HR during sleep. Respiratory muscles and tibialis anterior EMG tonic activity was frequently found, more often in patients with stridor. All patients had REM sleep behaviour disorders (RBD) and 88% periodic limb movements during sleep (PLMS). No OSAS patient had RBD or respiratory muscles and tibialis anterior tonic activity. CONCLUSIONS: MSA patients, especially those with associated stridor, commonly display impaired breathing and abnormal control of respiratory and limb muscles during sleep. Breathing and motor abnormalities are often concomitant in the same patient, indicating a diffuse impairment of sleep homeostatic integration that should be included within the diagnostic features of MSA.

Adult↗

PubMed2004

Restless legs syndrome: an historical note.

The article briefly summarizes the milestones leading to current knowledge and the possibility of treating one of the most widespread and perhaps least known diseases, restless legs syndrome (RLS). Until the mid-twentieth century, the syndrome first described by Willis (1685), was sporadically reported in medical literature and in most cases deemed a bizzare condition. It was only with Ekbom's detailed clinical description of the syndrome (1944) and the polygraphic recordings of Coccagna et al. (1962) that RLS became well-recognised clinical entity. Since then, almost all sleep laboratories have devoted much of their research to discovering the pathogenetic mechanisms underlying the disease and devise increasingly specific treatment. Major advances have been made in recent years, but a full understanding of RLS is still a long way off.

History, 17th Century↗

PubMed2004

Split-screen synchronized display. A useful video-EEG technique for studying paroxysmal phenomena.

Video-EEG is an indispensable and widely used technique for studying paroxysmal phenomena. We present a method of processing video recordings to compare the sequence of ictal manifestations of different episodes. Five presentations of two seizures recorded in each of five patients are shown, in which apparently different ictal features are strongly superimposed and stereotyped. Split-screen synchronized display is a simple and valid technique for studying and presenting particular semeiological aspects of epileptic seizures. (Published with videosequences).

Adult↗

PubMed2003

Pelvic movements as rhythmic motor manifestation associated with restless legs syndrome.

Video-polysomnographic monitoring of a patient with a 4-year history of an unpleasant restless sensation originating in his lower abdomen showed stereotyped, repetitive, rhythmic pelvic body movements resembling coital behaviour at the wake-sleep transition. We discuss the association between restless legs syndrome and rhythmic movement disorder as a particular manifestation of a spectrum of rhythmic sleep-related movement disorders.

Abdominal Muscles↗

PubMed2002

Excessive fragmentary hypnic myoclonus: clinical and neurophysiological findings.

BACKGROUND: Brief involuntary sleep-related twitches occurring asymmetrically throughout the body define physiologic hypnic fragmentary myoclonus. An abnormal intensification of this entity identifies excessive fragmentary hypnic myoclonus (EFHM), a 'proposed sleep disorder' in the International Sleep Disorders Classification. METHODS: We describe two patients with EFHM, one associated with a REM behaviour disorder. RESULTS: EFHM activity was restricted to sleep prevailing during NREM sleep stages and the second part of the night. EMG was normal and EEG-EMG back-averaging did not show any cortical potentials related to the twitches. CONCLUSIONS: EFHM represents a pathological phenomenon which may or may not be associated with other sleep disorders. A brainstem generator explains its distribution throughout the body and the sleep stages.

Journal Article↗