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Biomedical subjects

Marco Zucconi

Publications and source records attributed to Marco Zucconi.

At least 19 recordsLinked to original sources
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↗
PubMed2007

Event-related potentials in idiopathic rapid eye movements sleep behaviour disorder.

OBJECTIVE: To assess psychophysiological parameters in idiopathic rapid eye movements sleep behaviour disorder (RBD), in order to identify possible markers for pre or sub-clinical cognitive abnormalities. METHODS: Sixteen consecutive unmedicated patients with idiopathic RBD and 16 age- and sex-matched controls performed active and passive auditory oddball paradigms and an attentional test. RESULTS: There were no significant between-group latency and amplitude differences. The two groups showed a difference in the inter-peak interval between N100 and P200 in the active condition. A significant correlation between attentional matrices scores and N100 amplitude at Fz and Cz to standard stimuli in the passive condition was found in controls but not in patients. CONCLUSIONS: In RBD there are minimal event-related potentials (ERPs) abnormalities involving the early stages of information processing. SIGNIFICANCE: ERPs are not sensitive to pre or sub-clinical cognitive abnormalities in RBD. In alternative, these findings might support the existence of a truly idiopathic RBD syndrome.

Aged↗
PubMed2006

Heart rate and spectral EEG changes accompanying periodic and non-periodic leg movements during sleep.

OBJECTIVE: To evaluate the changes in heart rate (HR) and EEG spectra accompanying periodic (PLM) and non-periodic leg movements (NPLM) during sleep in patients with restless legs syndrome (RLS). METHODS: Sixteen patients with RLS underwent one polysomnographic night recording; leg movements (LMs) during sleep were detected and classified as PLM or NPLM; up to 10 PLM and NPLM were chosen from NREM and REM sleep, for each patient and for each type (mono- or bilateral). EEG spectral analysis and HR were evaluated for 20s preceding and 30s following the onset of each LM. RESULTS: EEG activation preceded LMs, particularly in the delta band which increased before the other frequency bands, in NREM sleep but not in REM sleep for PLM, and in both stages for NPLM. A similar difference was seen between mono- and bilateral LMs. CONCLUSIONS: Sleep EEG, HR, and leg motor activity seems to be modulated by a complex dynamically interacting system of cortical and subcortical mechanisms, which influence each other. SIGNIFICANCE: Future studies on the clinical significance of leg motor events during sleep need to take into account events classifiable as "isolated" and to integrate the autonomic and EEG changes accompanying them.

Autonomic Nervous System↗
PubMed2006

Topiramate treatment for nocturnal frontal lobe epilepsy.

PURPOSE: Aim of this study was to evaluate the efficacy and tolerability of the antiepileptic drug topiramate (TPM) in a sample of patients with nocturnal frontal lobe epilepsy (NFLE). METHODS: A 24 patients with video-polysomnographically confirmed NFLE received topiramate as single or add-on therapy. They all completed diaries concerning the seizures frequency and complexity and underwent to periodic follow-up visits. We classified the patients as: seizure-free, responders or non-responders. RESULTS: 15 M; 9 F; mean age 29.3+/-10.4 years. The video-polysomnographic recordings showed a wide spectrum of seizures, ranging from repeated stereotypic brief motor attacks to prolonged attacks, with complex and bizarre behaviour; the recorded episodes occurred during non-REM sleep, both stage 2 and stage 3-4. The EEG during wakefulness was normal in all the patients, while seven of them showed epileptiform abnormalities during polysomnography. TPM was administered as single or add-on therapy from 50 to 300mg daily at bedtime. The follow-up duration ranged from 6 months to 6 years. The patients were classified as: seizure-free=6 (25%); responders (reduction of at least 50% of seizures)=15 (62.5%); non-responders=3 (12.5%). The adverse events were: weight loss (6 pts, 25%); paresthesias (3 pts, 12.5%); speech dysfunction (2 pts, 8.3%). All the adverse events disappeared within 3 months. CONCLUSIONS: In our experience, TPM seems to be effective in about 90% of patients with NFLE. Few of them experienced transitory adverse events. TPM could be included in the options for patients with this form of epilepsy.

Adult↗
PubMed2006

New approaches to the study of periodic leg movements during sleep in restless legs syndrome.

STUDY OBJECTIVES: To describe a new approach for the analysis of quantity, type, and periodicity of the leg motor activity during sleep in patients with restless legs syndrome (RLS) and periodic leg movements (PLM). METHODS: The following parameters were taken into account for LM: duration, amplitude, area under the curve, sleep stage, side, interval, and bilaterality. The analysis of inter-LM intervals was carried out by drawing their distribution graphs. A new index evaluated their periodicity and was validated by means of a Markovian analysis. The differences in inter-LM intervals, LM duration, and area under the curve between normal controls and patients and between the 3 patient subgroups identified on the basis of their periodicity were statistically analyzed. SETTING: N/A. PARTICIPANTS: Sixty-five patients with RLS and periodic LM and 22 young healthy controls. MEASUREMENTS AND RESULTS: The RLS patients' inter-LM interval distribution graph showed a wide peak with a maximum located at around 15 to 30 seconds and extending from 10 to 90 seconds, not present in controls, and another peak for intervals less than 8 seconds, higher than that of controls. Three patient subgroups were identified with different proportions of these 2 peaks, periodicity, and Markovian parameters. Periodicity was not dependent on the periodic leg movement index. Patients showing the peak mainly at around 15 to 30 seconds tended to show slightly longer and higher area under the curve LM than did the other 2 subgroups. CONCLUSIONS: Our new approach seems to be useful in a new qualitative differentiation among patients with PLM, which is not possible by using the simple PLM index.

Adult↗
PubMed2005

Two new putative susceptibility loci for ADNFLE.

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) has been up to now considered a simple Mendelian trait caused by mutations in neuronal nicotinic acetylcholine receptor (nAChR) subunit genes. We previously demonstrated that in a three-generation Italian family the disease was unlinked to all known ADNFLE loci as well as to all known brain-expressed nAChR subunits. The genome-wide linkage analysis here presented performed on this family points to the existence of two new putative ADNFLE loci on chromosomes 3p22-p24 and 8q11.2-q21.1. These findings, together with several ADNFLE characteristics, suggest that this epilepsy could be, at least in the above family, a complex disorder. In particular, we propose and discuss the hypothesis of a digenic transmission of the disease.

Chromosome Mapping↗
PubMed2005

Computer-assisted detection of nocturnal leg motor activity in patients with restless legs syndrome and periodic leg movements during sleep.

STUDY OBJECTIVES: To assess the performance of a new method for automatic detection of periodic leg movements during sleep. METHODS: Leg movements during sleep were visually detected in the tibialis anterior muscles recordings of 15 patients with restless legs syndrome and 15 normal controls. Leg movements were detected automatically by means of a new computer method with which electromyogram signals are first digitally band-pass filtered and then rectified; subsequently, the detection of leg movements is performed by using 2 thresholds: one for the starting point and another to detect the end point of each leg movement. Sensitivity and false-positive rate were obtained; the American Sleep Disorders Association parameters were also computed, and the results analyzed by means of the Kendall W coefficient, the linear correlation coefficient and the Bland-Altman plots. SETTING: N/A. PARTICIPANTS: Fifteen patients with restless legs syndrome and periodic leg movements and 15 controls. MEASUREMENTS AND RESULTS: High values of the Kendall W coefficient of concordance between automatic and visual analysis were found with values close to 1 and the linear correlation coefficient for leg movements index and total leg movements index was > 0.950 (p < .000001). The Bland-Altman plots provided the limits of agreement between visual and computer detection, which were -9.01 and +9.89 for the periodic leg movement index. None of the normal controls was found to have periodic leg movement indexes >5 after automatic analysis. CONCLUSIONS: Our method can be applied to the clinical evaluation of periodic leg movements during sleep, with some caution in patients with a low periodic leg movement indexes. Large-scale research application is possible and can be considered as reliable.

Adult↗
PubMed2005

Case of symptomatic propriospinal myoclonus evolving toward acute "myoclonic status".

Propriospinal myoclonus is a rare motor disorder consisting of involuntary spinal-generated muscular jerks. Here, we report a severe and uncommon case of propriospinal myoclonus that appeared after a vertebral fracture of T11. In this patient, the polysomnographic investigation showed continuing focal myoclonic activity in axial muscles during stable sleep and an acute progression into a myoclonic "status" associated with respiratory failure and loss of consciousness. It is necessary to consider this severe progression and support it with prompt emergency maneuvers and adequate pharmacotherapy.

Anticonvulsants↗
PubMed2004

Epidemiology and clinical findings of restless legs syndrome.

Restless legs syndrome (RLS) is a sensory-motor disorder characterized by discomfort of and urge to move the legs, primarily during rest or inactivity, partial or total relief with movement, with presence or worsening exclusively in the evening. It is a relatively common but frequently unrecognized disorder, with a prevalence ranging from 2.5 to 15% of the general population, increasing with age and with a female preponderance. The diagnosis is clinical but polysomnography is useful to determine its profound impact on sleep (difficulties in sleep onset, maintaining sleep during the night, and sleep fragmentation) and for the evidence of periodic legs movements during sleep and wake. RLS is generally idiopathic, with familial association in 40-60% of the cases, but may also be symptomatic of such associated conditions (secondary forms) as peripheral neuropathies, uremia, iron deficiency (with or without anemia), diabetes, Parkinson's disease and pregnancy. Response to dopaminergic drugs indicates that dopamine receptors are implicated, and although much progress has been made in diagnosis and treatment in the last decade, more is needed for complete elucidation of the etiology and pathophysiology of RLS.

Adult↗
PubMed2004

Genetics in restless legs syndrome.

Several studies on Restless legs syndrome (RLS) have suggested a substantial genetic contribution in the etiology of this sleep disorder. Clinical surveys of idiopathic RLS patients have shown that up to 60% report a positive family history. Investigations of single families with RLS have suggested an autosomal dominant mode of inheritance with variable expressivity, and some families show possible anticipation. At present, only one twin study is available, showing a high concordance rate (83.3%) between identical twins. Despite several reports suggesting a genetic contribution to the etiology of idiopathic RLS, few molecular genetic studies have been carried out attempting to identify genes that can predispose to this disorder. In particular, genes encoding for the GABA A receptor subunits, the gene for the alpha1 subunit of the glycine receptor, and genes involved in dopaminergic transmission and metabolism have been analyzed, but no significant findings have been reported. Genome-wide studies have been conducted to map genes that play a role in vulnerability to RLS. In a single French-Canadian family significant linkage was established on chromosome 12q. The susceptibility locus on chromosome 12q was not confirmed in two South Tyrolean families, or in our two Italian families. However, the efforts toward the identification of RLS genes must continue in order to obtain a better characterization of the syndrome and to identify new therapeutic strategies.

Genetic Predisposition to Disease↗
PubMed2003

Cabergoline is an effective single-drug treatment for restless legs syndrome: clinical and actigraphic evaluation.

STUDY OBJECTIVES: To evaluate the efficacy and the safety of cabergoline, a dopamine-receptor agonist with a long half-life, in restless legs syndrome (RLS). DESIGN: A 2 month, single blind, open labeled clinical trial. Patients were evaluated with polysomnography at baseline (B), following 1 week of placebo (T0), and after 1 week (T1) and 2 months (T2) of cabergoline treatment. The clinical global impression was assessed using International RLS Study Group Rating Scale and nocturnal actigraphy. SETTING: Sleep Disorders Center. PATIENTS: Twelve patients with moderate to severe RLS (mean age 56.6 years) who were naive to treatment with dopaminergic agents. INTERVENTIONS: Upward titration of cabergoline (from 0.5 mg to 2 mg) in a single evening dose. MEASUREMENTS AND RESULTS: Ten patients completed the study (mean dose, 1.1 mg), and all showed an improvement of RLS symptoms. The results from the International RLS Study Group Rating Scale showed similarities between B (24.3+/-2.9) and T0 (23.1+/-5.9; P=0.6), with significant improvement at T1 (12.5+/-6.0; P=0.01 vs B and T0) and T2 (9.8+/-6.9; P=0.001 vs B and P=0.005 vs T0). The mean nocturnal activity value measured by actigraphy during week 1 decreased from T0 (19.8+/-9.3) to T1 (13.6+/-6.4) and dropped significantly at T2 (8.5+/-5.3; P=0.05). Nine patients continued the treatment up to 12 months with consistent efficacy, few side effects, and no augmentation. CONCLUSIONS: Low doses of cabergoline showed effectiveness and safety in patients with moderate to severe RLS, with no appearance of augmentation phenomenon. Double blind, crossover, polysomnographic studies are necessary to confirm this preliminary data.

Adult↗
PubMed2003

Prevalence of habitual snoring and sleep-disordered breathing in preschool-aged children in an Italian community.

OBJECTIVE: To measure the prevalence of habitual snoring and sleep-disordered breathing in preschool-aged children. STUDY DESIGN: Cross-sectional survey with parental report and overnight ambulatory monitoring of children 3 to 6 years of age in 8 kindergartens (n = 604). Parents reported the child's information through an interviewer-based questionnaire or by a brief telephone interview. Snoring, oxygen saturation, body position, and heart rate were recorded for 1 night at home. RESULTS: Data were obtained on 98.5% of 604 children (447 questionnaires, 74%; 148 telephone interviews, 24.5%); groups were similar for sex and age. Two hundred sixty-five children had ambulatory monitoring at home. Habitual snoring (always and often) was reported in 34.5% and breathing cessation in 18.6%. Habitual snoring was associated with parental report of daytime symptoms (P =.001) and daytime somnolence (P =.032). Pathologic snoring was present in 12% of children (95% CI, 7.9-16.1). On multivariate analysis, parental report of habitual snoring was the strongest determinant of pathologic snoring (OR, 12.23; 95% CI, 3.56-41.94). Oxygen desaturation index > or =5 per hour was found in 13% of children (95% CI, 8.7-17.3). CONCLUSIONS: Parental report of habitual snoring is very common. Children with habitual snoring are more likely to have objectively measured snoring and daytime morbidity.

Child↗
PubMed2003

Autosomal dominant restless legs syndrome maps on chromosome 14q.

Restless legs syndrome (RLS) is a common neurological disorder characterized by an irresistible desire to move the extremities associated with paraesthesia/dysaesthesia. These symptoms occur predominantly at rest and worsen at night, resulting in nocturnal insomnia and chronic sleep deprivation. In this paper, we show significant evidence of linkage to a new locus for RLS on chromosome 14q13-21 region in a 30-member, three-generation Italian family affected by RLS and periodic leg movements in sleep (PLMS). This is the second RLS locus identified so far and the first consistent with an autosomal dominant inheritance pattern. The new RLS critical region spans 9.1 cM, between markers D14S70 and D14S1068. The maximum two-point log of odds ratio score value, of 3.23 at theta = 0.0, was obtained for marker D14S288. The accurate clinical evaluation of RLS-affected, as well as unaffected, family members allowed for the configuring of RLS as a phenotypic spectrum ranging from PLMS to RLS. Motor component, both while awake and during sleep, was an important aspect of the phenotype in the family analysed. The complementary clinical and genetic studies on multiplex families are likely to be of the utmost importance in unfolding the complete expressivity of RLS phenotype spectrum.

Adolescent↗
PubMed2003

Respiratory monitoring by means of an unattended device in children with suspected uncomplicated obstructive sleep apnea: a validation study.

STUDY OBJECTIVE: To compare an unattended device for cardiorespiratory monitoring (POLY-MESAM; MAP; Martinsried, Germany) [P-M] with classic nocturnal polysomnography (PSG) for diagnosis of obstructive sleep apnea (OSA) in children. DESIGN: Clinical setting. PATIENTS: Twelve children (age range, 3 to 6 years) with highly suspected uncomplicated OSA who underwent PSG and P-M on 2 consecutive laboratory nights in a balanced manner. MEASUREMENTS: Respiratory indexes were compared for P-M (automated analysis), hand-scored revised P-M (P-Mrev), and PSG. Analysis of contingency for cutoff levels of respiratory disturbance index (RDI) of 5 and 10 and level of agreement between P-M, P-Mrev, and PSG by the concordance method were evaluated. RESULTS: Nine of twelve children (75%) had a PSG RDI > 5, while 41.7% had an RDI > 10, indicating moderate-to-severe OSA. P-M sensitivity (78%) increased with the increase of the RDI cutoff, and P-Mrev sensitivity reached 100% at the cutoff of 10. The specificity was low for RDI > 5 and increased only modestly at RDI > 10 (P-Mrev, 57%). Seven of 12 children (increasing to 9 children with P-Mrev) and 9 of 12 children (increasing to 11 children with P-Mrev) were correctly classified by the P-M unit when cutoffs of 5 and 10 were considered, respectively. As far as the agreement level is concerned, P-M underestimated the incidence of obstructive hypopnea and overestimated the number of central apnea cases. P-Mrev improved the latter measure. CONCLUSION: Based on these data, the P-M device cannot be advocated for common use in a clinical setting, but it may have a role in urgent screening for highly suspected moderate-to-severe OSA.

Blood Gas Analysis↗
PubMed2002

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families.

Members of the ligand-gated neuronal nicotinic acetylcholine receptor (nAChR) gene family ( CHRNA4 and CHRNB2, coding for the alpha4 and beta2 subunits, respectively) are involved in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). However, ADNFLE is genetically heterogeneous and mutations in CHRNA4 and CHRNB2 account for only a minority of ADNFLE cases. Additional nAChR subunits expressed in the brain are candidates for this epilepsy. The involvement of all genes coding for brain-expressed nAChR subunits, with known chromosome localization ( CHRNB2, 1q21; CHRNA2, 8p21; CHRNA6, CHRNB3, 8p11.2; CHRNA7, 15q14; CHRNA5/A3/B4, 15q24 and CHRNA4, 20q13.2) was investigated in four unrelated ADNFLE Italian families for at least three generations. Families were selected on the basis of anamnestic and videopolysomnographic analyses. Individuals were typed for polymorphic markers located in the above mentioned chromosome regions. Linkage and mutation analyses were performed. In none of the families was linkage between ADNFLE and the analysed chromosome regions detected. These findings support the hypothesis that genes different from those coding for alpha2-7 and beta2-4 neuronal nAChR subunits could be responsible for ADNFLE.

Brain↗