Impact of treatment with dimethyl fumarate on sleep quality in patients with relapsing-remitting multiple sclerosis: A multicentre Italian wearable tracker study.

Background: Sleep disorders are common in patients with multiple sclerosis and have a bidirectional interplay with fatigue and depression.

Objective: To evaluate the effect of treatment with oral dimethyl fumarate on the quality of sleep in relapsing-remitting multiple sclerosis.

Methods: This was a multicentre observational study with 223 relapsing-remitting multiple sclerosis subjects starting treatment with dimethyl fumarate (=177) or beta interferon (=46).

TBK1 is associated with ALS and ALS-FTD in Sardinian patients.

Recently, mutations in the TANK-binding kinase 1 (TBK1) gene were identified as a cause for amyotrophic lateral sclerosis (ALS) with or without comorbid frontotemporal dementia. We have assessed the frequency and clinical characteristics of TBK1 mutations in a cohort of ALS patients of Sardinian ancestry. Whole-exome sequencing was performed on Hiseq2000 platform (Illumina).

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.

Intermediate-length CAG expansions (encoding 27-33 glutamines, polyQ) of the Ataxin2 (ATXN2) gene represent a risk factor for amyotrophic lateral sclerosis (ALS). Recently, it has been proposed that ≥31 CAG expansions may influence ALS phenotype. We assessed whether ATXN2 intermediate-length polyQ expansions influence ALS phenotype in a series of 375 patients of Sardinian ancestry.

Genetic architecture of ALS in Sardinia.

Conserved populations, such as Sardinians, displaying elevated rates of familial or sporadic amyotrophic lateral sclerosis (ALS) provide unique information on the genetics of the disease. Our aim was to describe the genetic profile of a consecutive series of ALS patients of Sardinian ancestry. All ALS patients of Sardinian ancestry, identified between 2008 and 2013 through the Italian ALS Genetic Consortium, were eligible to be included in the study.

Primary motor cortex hyperexcitability in Fabry's disease.

Objective: Involvement of pyramidal cells and/or changes in excitability of brain areas remote from an ischemic stroke has been demonstrated. Since in Fabry disease (FD), specific cerebrovascular lesions are present, we thought to investigate motor cortex excitability, using transcranial magnetic stimulation.

Methods: Resting (RMT) and active (AMT) motor threshold, input-output curve (IN-OUT), central motor conduction time (CMCT), cortical silent period (cSP), short and long interval intracortical inhibition (SICI and LICI), intracortical facilitation (ICF), short interval intracortical facilitation (SICF) and short afferent inhibition (SAI) were measured in the cortical representation of the right first dorsal interosseous muscle in 11 patients with FD and 11 sex- and age matched healthy subjects.

Amyotrophic lateral sclerosis in Sardinia, insular Italy, 1995-2009.

Recent genetic studies suggest a Sardinian type of amyotrophic lateral sclerosis (ALS). Thus, ALS incidence, prevalence and survival were investigated in a large population of Sardinians aimed to disclose population-specific patterns and their temporal changes. This is a population-based incidence and prevalence study in northern and central Sardinia, insular Italy (over 700,000 population).

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.

A genome-wide association scan of approximately 6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 x 10(-10), OR = 1.

Evaluating patients with vertigo: bedside examination.

Dizziness and vertigo are common complaints in patients referred for neurological evaluation. With a basic understanding of vestibular physiology and proper examination techniques, a correct diagnosis can generally be made at the bedside. This article reviews the most common peripheral and central vestibular syndromes as well as the key elements of the bedside vestibular system examination.

Modulation of soleus H reflex by lateral tilting in man.

Static vestibular influences on extensor tone of the lower limbs in man were studied by analyzing the changes in right soleus H-reflex (RSHR) area in relation to lateral tiltings. Eight normal adult volunteers were tested in an experimental situation designed to minimize all afferent inputs, except the vestibular ones. Each subject was seated on a chair which could be tilted laterally from the vertical to both sides.

Evoked potentials in patients with non-neurological Wilson's disease.

In Wilson's disease neurological manifestations result from the damage in the basal ganglia, even if a widespread degeneration of the brain occurs. The few studies performed using evoked potentials with the aim of identifying subclinical dysfunction in the three major sensory pathways have never shown abnormalities in patients without neurological manifestations. To verify this observation we studied 12 patients suffering from Wilson's disease in a pre-neurological stage by using pattern visual evoked potentials (VEPs), somatosensory evoked potentials (SEPs) to median nerve stimulation and brainstem auditory evoked potentials (BAEPs).

Unilateral occipital lesion causing hemianopia affects the acoustic saccadic programming.

Infrared oculographic recordings of saccades evoked by auditory or visual targets in four patients with hemianopia due to an occipital lesion showed that these patients employed a different strategy to find visual and auditory targets in each hemifield. In the seeing hemifield, the patients acquired auditory targets with both monosaccadic and multiple saccadic refixations. The first saccade, the largest, brought the eyes toward the target; the following smaller saccades completed the search as in normal subjects.

POEMS syndrome: a case report.

A case of POEMS syndrome in a 43-year-old male with polyneuropathy, osteolytic lesion of the basin due to solitary IgA-lambda plasmacytoma, cutaneous scleroderma-like changes, diffuse lymphadenopathy and hepatosplenomegaly is described. Liver biopsy showed a regenerative process of the parenchyma without laboratory and histologic evidence of necrosis. A peculiar finding was the onset of a right hemiparesis in the absence of signs of vascular disease or other predisposing factors.

Successful treatment of acquired pendular elliptical nystagmus in multiple sclerosis with isoniazid and base-out prisms.

We treated 3 multiple sclerosis patients who had pendular nystagmus with isoniazid (800 to 1,000 mg/d). Isoniazid abolished the nystagmus and relieved oscillopsia in 2 patients but was ineffective in the 3rd in whom the nystagmus was damped with convergence and vision improved with converging (base-out) prisms.

Diagnostic value of extensor digitorum brevis F-wave in L5 root compression.

The sensibility of F-wave in detecting lumbosacral radicular compression has been found to range from 65% to 18%. The present study was performed on 24 patients suffering from unilateral L5 compressive radiculopathy. The aim was to verify the reliability of extensor digitorum brevis (EDB) F-wave in the diagnosis of L5 root impairment, by using different parameters such as minimal, mean, maximal latency and the difference of these parameters between the affected and unaffected sides.

Modulation of flexor carpi radialis H reflex by lateral tilts in man.

Static vestibular influences on upper limb flexor tone were studied in man by analyzing the changes in flexor carpi radialis H reflex area with lateral tilting of the longitudinal body axis. Ten healthy volunteers and 2 labyrinthine defective patients were tested in an experimental situation designed to minimize all afferent inputs except vestibular ones. Each subject was seated on a chair which could be tilted laterally to the left or the right from the vertical.

Upbeat nystagmus as an early sign of cerebellar astrocytoma.

A boy with a left-hemispheric cerebellar astrocytoma had upbeat nystagmus exhibiting increasing-velocity slow phases. The nystagmus improved after excision of the tumour.

Tonic neck reflexes on upper limb flexor tone in man.

The asymmetric tonic neck reflexes on upper limbs in man have been studied by analyzing the changes in flexor carpi radialis H-reflex amplitude following body rotation around the longitudinal axis with a stationary head. In eight normal subjects 15 consecutive H-reflexes were recorded from the right flexor carpi radialis muscle at each test position. The tested body rotation angles were 4, 8, 12, 16, and 20 degrees both to the right side and to the left side.

Eating seizures and distraction-arousal functions. A case study.

Reports of epileptic seizures evoked by eating are very scarce in the literature. A review of the reported cases suggests that various mechanisms may act as triggering factors in this form of reflex epilepsy. We studied a 17-year-old boy in whom the seizures precipitated by eating had been prevented by giving him some alerting stimuli during the meal.

Influences of neck receptors on soleus motoneuron excitability in man.

We studied the influence of the asymmetric tonic neck reflexes on the excitability of the human soleus motoneuronal pool by mapping the H amplitude as a function of rotation of the body relative to the fixed head. Eight normal adult volunteers were tested. On each subject 15 consecutive H reflexes were recorded from the right soleus muscle, for each of the following test position, 4 degrees, 8 degrees, 12 degrees, 16 degrees, as well as at the control position (0 degrees), both before and after each change in body position.

Diabetic polyneuropathy and insulin secretion in type II diabetic patients.

Electrophysiological examination was performed on 50 type II diabetic patients to verify whether insulin secretory reserve is a factor influencing the susceptibility to develop polyneuropathy. The results showed that less significant metabolic derangement related to high insulin secretory reserve, and not the high insulin secretory reserve by itself, may prevent the development of neuropathic disorders. These data are consistent with the current opinion that diabetic polyneuropathy is the consequence of the metabolic derangement caused by chronic hyperglycemia.

Brain distribution of carbamazepine and phenobarbital given in combination in experimental epilepsy.

This study describes the brain distribution of carbamazepine (CBZ) and phenobarbital (PB) given intraperitoneally in combination to cats rendered epileptic by parenteral penicillin and by penicillin topically applied on neocortex. A control group of normal cats was also evaluated pharmacokinetically. Levels of both drugs were extremely low in brains of controls (CBZ 0.

Audio-ocular response: saccadic programming.

The eye movements elicited by auditory stimuli--the audio-ocular response (AOR)--differ from those made in response to a visual target. The movements consist of both monosaccadic and multiple saccadic refixations (MSR). In visual refixation, monosaccadic refixations are always accurate; in AOR, they rarely are.

Old and new genetics help ordering loci at the telomere of the human X-chromosome long arm.

A Sardinian pedigree described in 1964 for having been found to segregate at the X-linked loci for the Xga antigen, G6PD deficiency, Protan and Deutan color blindness, with an instance of recombination between the last two loci, was re-examined with respect to four common X-linked DNA polymorphisms detected by molecular probes homologous to critical subregions of the human X chromosome. Two branches of this pedigree--including the one with the Protan-Deutan recombinant--were found to segregate also for the common BamHI polymorphism identified with the cDNA probe pHPT-2 or the HPRT gene (Xq26). The analysis of the chromosome haplotypes in the male offspring of the phase known penta-heterozygous mother suggests that the probable order of the relevant loci is HPRT, Deutan, G6PD, Protan, Xq telomere.