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Summary: 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. [Copyright &y& Elsevier] more...

Abstract: Objective: To compare heart rate variability (HRV) changes in patients with restless legs syndrome (RLS) and in healthy subjects, and to evaluate HRV before and after treatment with pramipexole in RLS patients. Methods: A prospective, polysomnographic, single-blind, placebo-controlled study was performed in 23 patients with RLS and 10 healthy subjects. Basal spectral analysis of HRV and phasic heart rate (HR) changes during PLMS were compared between the two groups and, within the RLS group, before and after treatment with placebo or pramipexole. Results: No differences were found in the basal sympathovagal balance outside of PLMS between RLS and controls and, in the RLS group, before and after treatment. The amplitude of PLMS-related HR changes was higher in patients than in controls. Treatment with pramipexole decreased the number of PLMS and normalized the increased PLMS-related HR response in RLS subjects. Conclusions: The repetitive abnormal autonomic response to PLMS might play a role in the increased cardiovascular risk proposed for RLS patients. Pramipexole reduced the number of PLMS and the amplitude of the autonomic response to residual PLMS, without effects on the tonic sympathovagal regulation. D3 receptors in the sympathetic pre-ganglionic neurons of the spinal intermediolateral columns might be a target of pramipexole. The normalization of the HR response could be relevant in reducing the risk of cardiovascular diseases and associated autonomic dysfunctions in patients with RLS. [Copyright &y& Elsevier] more...

Mutations responsible for autosomal dominant nocturnal frontal lobe epilepsy have been identified in two members of the neuronal nicotinic acetylcholine receptor gene family: CHRNA4(ENFL1 locus) and CHRNB2 (ENFL3 locus) coding for α4 and β2 subunit, respectively. However, mutations in these genes account for only a minority (less than 10%) of cases. For a third ADNFLE locus (ENFL2) on chromosome 15q24 the gene was not identified. The involvement of the three loci in the pathogenesis of ADNFLE was investigated in 12 unrelated Italian families, selected on the basis of anamnestic and video-polysomnographic data. Compliant family members were typed for polymorphic markers spanning the analyzed chromosome regions. Linkage analyses excluded association of all chromosome regions with ADNFLE in 72% of cases. In two, four and one families it was impossible to ascertain or exclude association with ENFL1, ENFL2, or ENFL3, respectively, however, no mutations have been detected in the nicotinic receptor genes located in these regions. These data strongly suggest that ENFL1, ENFL2 and ENFL3 are minor loci for the disease and point to the existence of at least a fourth locus for ADNFLE. [Copyright &y& Elsevier] more...

Abstract: Objective: The aim of this study was to evaluate the effects of a simple method of noise reduction before the calculation of the REM sleep atonia index (AI) on a large number of recordings from different normal controls and patient groups. Subjects and methods: Eighty-nine subjects were included: 25 young controls, 10 aged controls, 31 untreated patients with idiopathic REM sleep behavior disorder (iRBD), 8 treated patients with iRBD, 10 patients with multiple system atrophy (MSA) and 5 patients with obstructive sleep apnea syndrome (OSAS). The average amplitude of the rectified submentalis muscle EMG signal was then obtained for all 1-s mini epochs of REM sleep. The new correction method was implemented by subtracting from each mini epoch the minimum value found in a moving window including the 60 mini epochs surrounding it. Results: Two arbitrary thresholds were established at AI<0.8 and 0.80.9; this was not true for aged controls, 3 of whom presented 0.80.9. All MSA patients showed AI<0.8. Conclusions: After the introduction of this new method for noise reduction, REM sleep AI index values lower than 0.8 were strongly indicative of altered (reduced) chin EMG atonia during REM sleep; values of AI between 0.8 and 0.9 indicated a less evident involvement of atonia, and values above 0.9 characterized the majority of normal recordings. [Copyright &y& Elsevier] more...