Search results for "Neurologia"
showing 10 items of 730 documents
Further evidence of genetic heterogeneity in familial essential tremor.
2007
Familial essential tremor (FET) is a common hereditary movement disorder with phenotypic variability and genetic heterogeneity. To date, linkage analyses revealed three loci associated to essential tremor (ET) (ETM1 on 3q13, ETM2 on 2p22-25, and a locus on 6p23). We performed a genetic analysis of these candidate chromosomal regions in a fifth-generation Italian kindred with autosomal-dominant ET. Of the 22 clinically evaluated family members, nine were affected by ET. The genetic study indicates that the ET in this family is not associated to any of the known ET loci. These findings support evidence of further genetic heterogeneity for such disease. (C) 2007 Elsevier Ltd. All rights reserv…
Incidence of amyotrophic lateral sclerosis in Sicily: A population based study
2012
Our objective was to investigate incidence of amyotrophic lateral sclerosis (ALS) in Sicily, southern Italy, by means of a population based study. We included people with ALS resident in fi ve Sicilian provinces, whose onset occurred in the two-year period 2005 2006 (population at 31 December 2006: 3,481,096 inhabitants). A multisource case-fi nding procedure was adopted and patients were classifi ed as affected by ALS according to revised El Escorial criteria. During the two-year surveillance period, 97 patients meeting eligibility criteria included 57 males (58.8%) and 40 females (41.2%). Crude annual incidence rate was 1.4/100,000 person years (95% CI 1.33 1.47). The incidence rate was h…
Abnormal BAEP and internal auditory canal MRI in intracranial hypotension
2017
Intracranial hypotension (IH) is a treatable condition due to cerebrospinal fluid leak, characterised by variable clinical and MRI findings.1 Positional headache, neck stiffness, hearing changes with subdural fluid collection, enhancement of meninges, engorgement of venous structures and brain sagging are among the most frequent clinical and MRI findings. Typical abnormalities are found in 68%–85% of patients1. Hearing alterations (ranging from misperception to severe hearing loss) are known clinical symptoms of IH.1 The mechanism involves secondary perilymph depression due to patency of the cochlear aqueduct, inducing a compensatory expansion of the endolymphatic compartment, decreasing ba…
Social cognition dysfunctions in patients with epilepsy: Evidence from patients with temporal lobe and idiopathic generalized epilepsies
2015
Abstract Background and aim Despite an extensive literature on cognitive impairments in focal and generalized epilepsy, only a few number of studies specifically explored social cognition disorders in epilepsy syndromes. The aim of our study was to investigate social cognition abilities in patients with temporal lobe epilepsy (TLE) and in patients with idiopathic generalized epilepsy (IGE). Materials and methods Thirty-nine patients (21 patients with TLE and 18 patients with IGE) and 21 matched healthy controls (HCs) were recruited. All subjects underwent a basic neuropsychological battery plus two experimental tasks evaluating emotion recognition from facial expression (Ekman-60-Faces test…
Influence of automatic word reading on motor control.
1998
We investigated the possible influence of automatic word reading on processes of visuo-motor transformation. Six subjects were required to reach and grasp a rod on whose visible face the word 'long' or 'short' was printed. Word reading was not explicitly required. In order to induce subjects to visually analyse the object trial by trial, object position and size were randomly varied during the experimental session. The kinematics of the reaching component was affected by word presentation. Peak acceleration, peak velocity, and peak deceleration of arm were higher for the word 'long' with respect to the word 'short'. That is, during the initial movement phase subjects automatically associate…
Visual illusions and the control of children arm movements.
2001
The aim of the present study was to determine whether children like adults (Gentilucci M, Chieffi S, Daprati E, Saetti MC, Toni I. Visual illusion and action. Neuropsychologia 1996;34:369-76; Gentilucci M, Daprati E, Gangitano M, Toni I. Eye position tunes the contribution of allocentric and egocentric information to target localisation in human goal directed arm movements. Neurosci Lett 1997;222:123-6) are influenced by visual illusions when they transform visual information in motor command. Children and adults pointed to a shaft extremity of the Müller-Lyer configurations, as well as to an extremity of a control configuration. Movements were executed in two experimental conditions. In th…
Effects of high-frequency repetitive transcranial magnetic stimulation of primary motor cortex on laser-evoked potentials in migraine.
2010
The aim of this study was to examine the effects of high-frequency (HF) repetitive transcranial magnetic stimulation (rTMS) of the left primary motor cortex (M1) on subjective pain and evoked responses induced by laser stimulation (LEPs) of the contralateral hand and supraorbital zone in a cohort of migraine patients without aura during the inter-critical phase, and to compare the effects with those of non-migraine healthy controls. Thirteen migraine patients and 12 sex- and age-matched controls were evaluated. Each rTMS session consisted of 1,800 stimuli at a frequency of 5 Hz and 90% motor threshold intensity. Sham (control) rTMS was performed at the same stimulation position. The vertex …
Effects of levodopa oral bolus on the kinematics of the pointing movements in Parkinson's disease patients.
2005
We studied the time-course of a levodopa oral bolus effects on the kinematics of patients affected by a mild akinetic-rigid form of idiopathic Parkinson's disease (PD). Eleven PD patients were evaluated: a) in OFF-state, that is before their first medication or after its withdrawal, b) in ON-state, that is at 1/2, 1, 2, 3, 4, 5, 6, 24, 30 and 48 hours after the administration of 250 mg of levodopa plus 25mg of carbidopa. The main kinematics (i. e.movement time, peak of velocity, peak of acceleration and peak of deceleration) of pointing movements to six target-stimuli placed on the horizontal plane of a table were recorded. Clinical conditions were assessed according to the Motor Examinatio…
Integration of cognitive allocentric information in visuospatial short-term memory through the hippocampus
2005
Visuospatial short-term memory relies on a widely distributed neocortical network: some areas support the encoding process of the visually acquired spatial information, whereas other ares are more involved in the active maintenance of the encoded information. Recently, in a pointing to remembered targets task, it has been shown in healthy subjects that, for memory delays of 5 s, spatial errors are affected also by cognitive allocentric information, i.e., covert spatial information derived from a pure mental representation. We tested the effect of a lesion of the hippocampus on the accuracy of pointing movements toward remembered targets, with memory delays falling in the 0.5-30 s range. The…
Visuospatial learning is fostered in migraine: evidence by a neuropsychological study
2018
Cognitive profile in migraine patients still remains undefined. Contradictory evidence has been provided, with impairments in different cognitive domains, normal cognition, or even better performance compared to healthy controls (HC). The latter is of particular interest considering the evidence of glutamatergic upregulation in migraine, particularly in the visual cortex, and the role of the glutamatergic system in synaptic plasticity and learning. The aim of our study is to compare cognitive performance for visuospatial memory and learning (supraspan modality) between migraineurs without aura (MwoA) and HC. Twenty-one subjects suffering from MwoA and 21 HC were enrolled. Migraineurs during…