The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.

Background: In 1969, Dazzi and Finizio reported the second observation of frontotemporal dementia (FTD) - amyotrophic lateral sclerosis (ALS) association in a large Italian kindred affected by an autosomal dominant form of ALS with high penetrance, frequent bulbar onset, and frequent cognitive decline.

Objective: To expand the original characterization of this family and report the link with the C9orf72 repeat expansion (RE).

Methods: We followed or reviewed the medical records of thirteen patients belonging to the original family and performed genetic analyses in four individuals.

Tobacco habits in nocturnal frontal lobe epilepsy.

The beneficial effect of nicotine has been reported in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) patients, but not tested in sporadic cases. Recently, a nicotine defect in the arousal pathway has been hypothesized even in sporadic NFLE patients and their relatives. This case-control family study was designed to test whether NFLE subjects were more likely to use tobacco than controls, as an indirect marker of cholinergic arousal system dysregulation.

Abnormal medial thalamic metabolism in patients with idiopathic restless legs syndrome.

Pathophysiology of restless legs syndrome is poorly understood. A role of the thalamus, specifically of its medial portion which is a part of the limbic system, was suggested by functional magnetic resonance imaging and positron emission tomography studies. The aim of this study was to evaluate medial thalamus metabolism and structural integrity in patients with idiopathic restless legs syndrome using a multimodal magnetic resonance approach, including proton magnetic resonance spectroscopy, diffusion tensor imaging, voxel-based morphometry and volumetric and shape analysis.

European guidelines on management of restless legs syndrome: report of a joint task force by the European Federation of Neurological Societies, the European Neurological Society and the European Sleep Research Society.

Background: Since the publication of the first European Federation of Neurological Societies (EFNS) guidelines in 2005 on the management of restless legs syndrome (RLS; also known as Willis-Ekbom disease), there have been major therapeutic advances in the field. Furthermore, the management of RLS is now a part of routine neurological practice in Europe. New drugs have also become available, and further randomized controlled trials have been undertaken.

Abnormal sleep-cardiovascular system interaction in narcolepsy with cataplexy: effects of hypocretin deficiency in humans.

Study Objective: Narcolepsy with cataplexy (NC) is associated with loss of hypocretin neurons in the lateral hypothalamus involved in the circadian timing of sleep and wakefulness, and many biologic functions including autonomic control. The authors investigated whether chronic lack of hypocretin signaling alters cardiovascular control during sleep in humans.

Design: Comparison of 24-hr circadian rhythms, day-night, time- and state-dependent changes of blood pressure (BP) and heart rate (HR) in drug-free patients with NC and control subjects.

Physiologic autonomic arousal heralds motor manifestations of seizures in nocturnal frontal lobe epilepsy: implications for pathophysiology.

Objective: This study describes changes in heart rate (HR) and HR variability (HRV) related to clinical onset of seizures in nocturnal frontal lobe epilepsy (NFLE) in order to determine whether signs of autonomic activation precede onset of seizure motor manifestations, which was selected as seizure onset (SO). Further, to clarify the nature (epileptic or physiologic) of the changes in autonomic cardiac control presumed to precede SO, time-dependent variations in HR and HRV related to physiological cortical arousals associated with motor activity (phases of transitory activation, PAT) were also investigated.

Methods: HR and HRV spectral power, quantified by means of wavelet transform, were analyzed in relation to the onset of motor manifestations in 45 NFLE seizures and 45 PAT derived from whole night video-polysomnographic recordings of ten patients and of ten control subjects, respectively.

From REM sleep behaviour disorder to status dissociatus: insights into the maze of states of being.

Sleep is a coordinated process involving more or less simultaneous changes in sensory, motor, autonomic, hormonal, and cerebral processes. On the other hand, none of the changes occurring with sleep are invariably coupled to sleep. EEG synchrony, heat loss, sleep-related hormone secretion, and even REM-related motoneuron paralysis may occur independent of the parent state.

Oneiric stupor: the peculiar behaviour of agrypnia excitata.

Agrypnia excitata (AE) is a syndrome characterized by the inability to sleep associated with a generalized motor and autonomic over-activation. AE is caused by a thalamo-limbic system dysfunction and comprises three different conditions: Fatal Familial Insomnia (FFI), Delirium Tremens (DT), and Morvan Syndrome (MS). Oneiric Stupor episodes (OS) are the peculiar motor behaviour of AE.

Nocturnal frontal lobe epilepsy: new pathophysiological interpretations.

Since the first descriptions of Nocturnal Frontal Lobe Epilepsy (NFLE) many theories have been proposed to explain its pathophysiological mechanisms. The aim of this paper is to formulate a tentative hypothesis designed to unify the clinical, anatomo-physiological, and genetic aspects underlying this condition. According to this hypothesis, NFLE is due to a disorder in the thalamocortical circuit involved in the arousal mechanism.

Sleep-to-wake transition movement disorders.

Consciousness and vigilance level are important factors for the manifestation and variability of many disorders, including movement disorders. Usually lumped together into unspecified "Wakefulness," the transition between wakefulness and sleep--the pre-dormitum, and between sleep and wakefulness--the post-dormitum, possess intrinsic cerebral metabolic patterns and mental, behavioural, and neurophysiological characteristics which make these peculiar states of vigilance independent. Moreover, the pre- and post-dormitum, with the relative state-dependent changes in firing patterns of many neuronal supra-pinal populations, act to release pacemakers responsible for different sleep-related motor phenomena.

Group I nonreciprocal inhibition in restless legs syndrome secondary to chronic renal failure.

Background: Neurophysiological investigations disclosed spinal cord hyperexcitability in primary restless legs syndrome (p-RLS). Uremic RLS (u-RLS) is the most common secondary form, but its pathophysiological mechanisms remain unsettled. Aim of this study was to explore spinal cord excitability by evaluating group I nonreciprocal (Ib) inhibition in u-RLS patients in comparison with p-RLS patients and healthy subjects.

Diagnostic accuracy of a structured interview for nocturnal frontal lobe epilepsy (SINFLE): a proposal for developing diagnostic criteria.

Objectives: To measure the accuracy of anamnestic features collected during clinical history for the diagnosis of nocturnal frontal lobe epilepsy (NFLE).

Methods: A case-control diagnostic study. Participants included a case group of people with ascertained target disease (NFLE group) and a control group of people with sleep disorders potentially confounding for NFLS (NOT-NFLE group), defined by means of a consensus procedure among experts (panel diagnosis as reference standard).

Morvan chorea and agrypnia excitata: when video-polysomnographic recording guides the diagnosis.

Introduction: Morvan chorea is an antibody-mediated limbic encephalopathy characterized by severe insomnia, mental confusion, hallucinations, enacted dreams, hyperhidrosis, and neuromyotonia.

Case Description: In a 78 years old man presenting with progressive insomnia apathy and depression, a video-polysomnogram documented enacted dreams mimicking daily life activity (oneiric stupor). This finding led us to perform a search for serum antibodies to voltage-gated K+ channels, which was positive.

Narcolepsy with cataplexy associated with nocturnal compulsive behaviors: a case-control study.

Study Objectives: To assess the prevalence of sleep related-eating disorder (SRED) and nocturnal smoking (NS) in patients with narcolepsy with cataplexy (NC).

Design: Case-control study.

Setting: University hospital.

Normal body scheme and absent phantom limb experience in amputees while dreaming.

While dreaming amputees often experience a normal body image and the phantom limb may not be present. However, dreaming experiences in amputees have mainly been collected by questionnaires. We analysed the dream reports of amputated patients with phantom limb collected after awakening from REM sleep during overnight videopolysomnography (VPSG).

Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?

The purpose of this study was to evaluate the distribution of the polymorphisms of the SCN1A gene in a series of children and adolescents with primary headache and idiopathic or cryptogenic epilepsy compared to controls. Five non-synonymous exonic polymorphisms (1748A > T, 2656T > C, 3199A > G, 5771G > A, 5864T > C) of the SCN1A gene were selected and their genotyping was performed, by high resolution melting (HRM), in 49 cases and 100 controls. We found that among the five polymorphisms, only 3199A > G was a true polymorphism.

Cerebrospinal fluid hypocretin-1 levels during the active period of cluster headache.

Background: Hypocretins (orexins) are hypothalamic neuropeptides which are involved in a wide range of physiological processes in mammals including central pain processing. Genetic studies in humans evidenced a role for the hypocretinergic system in cluster headache (CH).

Patients And Methods: We tested cerebrospinal fluid (CSF) hypocretin-1 (orexin-A) levels in 10 CH patients during an active cluster period.

Microneurographic evaluation of sympathetic activity in small fiber neuropathy.

Objective: Small fiber neuropathy (SFN) may involve somatic and autonomic fibers. Assessment of somatic epidermal nerve fiber density (ENFs) is considered the gold standard test in the diagnosis of SFN. By contrast, autonomic involvement in SFN is more difficult to ascertain.

Cyclic alternating pattern in sleep and its relationship to creativity.

Background/objectives: Sleep has been shown to enhance creativity, but the reason for this enhancement is not entirely known. There are several different physiologic states associated with sleep. In addition to rapid (REM) and non-rapid eye movement (NREM) sleep, NREM sleep can be broken down into Stages (1-4) that are characterized by the degree of EEG slow-wave activity.

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.

Dominant optic atrophy (DOA) is genetically heterogeneous and pathogenic mutations have been identified in the OPA1 and OPA3 genes, both encoding for mitochondrial proteins. We characterized clinical and laboratory features in a large OPA1-negative family with complicated DOA. Search for mitochondrial dysfunction was performed by studying muscle biopsies, fibroblasts, platelets and magnetic resonance (MR) spectroscopy.

Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15).

Mutations in the F-box only protein 7 gene (FBXO7) cause PARK15, an autosomal recessive neurodegenerative disease presenting with severe levodopa-responsive parkinsonism and pyramidal disturbances. Understanding the PARK15 pathogenesis might thus provide clues on the mechanisms of maintenance of brain dopaminergic neurons, the same which are lost in Parkinson's disease. The protein(s) encoded by FBXO7 remain very poorly characterized.

Slow eye movements distribution during nocturnal sleep.

Objective: To assess the distribution across nocturnal sleep of slow eye movements (SEMs).

Methods: We evaluated SEMs distribution in the different sleep stages, and across sleep cycles in nocturnal recordings of 10 healthy women. Sleep was scored according to standard criteria, and the percentage of time occupied by the SEMs was automatically detected.

Restless legs syndrome enhances cardiovascular risk and mortality in patients with end-stage kidney disease undergoing long-term haemodialysis treatment.

Background: Restless legs syndrome (RLS) is a sensorimotor neurological disorder characterized by paraesthesia, dysaesthesia and the irresistible urge to move the legs especially at night. Its prevalence is much higher among dialysis patients at 12 to 62% compared to 3 to 9% in the general population. Here, we investigated the association between RLS and cardiovascular events risk and laboratory parameters in end-stage kidney disease (ESKD) patients on dialysis.