Search results for "Neurologi"
showing 10 items of 1189 documents
FUS mutations in sporadic amyotrophic lateral sclerosis
2011
Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease. © 2010 .
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation
2009
Recently, fused in sarcoma/translated in liposarcoma (FUS/TLS) gene, located on chromosome 16p11.2, has been identified as a disease gene in familial amyotrophic lateral sclerosis (FALS). We have analyzed FUS/TLS in a cohort of 52 index cases from seven Italian regions with non-SOD1 and non-TARDBP FALS. We identified a heterozygous c.G1542C missense mutation in a family of northern Italian origin, and a heterozygous c.C1574T missense mutation in a family of Sicilian origin. Both variants are located in exon 15 encoding the RNA-recognition motif, and result in a substitution of an arginine with a serine in position 514 (p.R514S) and substitution of a proline with a leucine at position 525 (p…
Cognitive deficits in beta-thalassemia major.
2000
OBJECTIVES: To assess cognitive functioning in patients affected by beta-thalassemia major (beta-th) by using a neuropsychological battery, and to identify clinical correlates. MATERIAL AND METHODS:Forty-six beta-th patients and 46 controls similar for age, sex, and education participated in the study. All subjects performed a comprehensive neuropsychological battery including tests of abstract reasoning, attention, executive functions, language, constructional/visuospatial skills, and memory. RESULTS:Compared to controls beta-th patients, in particular those showing signs of hemosiderosis, were significantly impaired on all neuropsychological tests. There was no relationship between cognit…
Prismatic Adaptation as a Novel Tool to Directionally Modulate Motor Cortex Excitability: Evidence From Paired-pulse TMS
2014
Abstract Background The prismatic adaptation (PA) is a visuo-motor procedure that has captured the attention of neuroscientists in the last decades, hence it seems to affect high-order cognition. However, the basic neural processes related to PA and its effects on cortical plasticity are not clear yet. Objective/hypothesis The aim of the present study is to explore whether PA induces a direct effect on the motor cortices (M1) excitability. Methods Fourteen healthy participants were submitted to paired-pulse TMS to measure short-intracortical-inhibition (SICI) and intracortical-facilitation (ICF) on both the left and the right M1, before and after PA, that could induce a leftward or rightwar…
Scalp, earlobe and nasopharyngeal recordings of the median nerve somatosensory evoked P14 potential in coma and brain death
1996
Median nerve somatosensory evoked potentials (SEPs) were recorded in a total of 181 patients in coma and brain death. Special attention was paid to derivation of P14 (the positive potential occurring approximately 14 ms after median nerve stimulation) with different electrode montages, using midfrontal scalp (Fz), linked earlobe (A1/2), median nasopharyngeal (Pgz) and non-cephalic reference (NC) electrodes. The P14 amplitude (and, to a lesser extent, latency) were invariably lower in brain death than in coma. The potential was preserved in coma in all patients, but lost in brain death in 9.8% in Fz-NC and Pgz-NC recordings, in 23.2% in Fz-A1/2, and in 100% in Fz-Pgz. Thus, Fz-Pgz was the de…
The Temporal Structure of Vertical Arm Movements
2011
Import JabRef | WosArea Life Sciences and Biomedicine - Other Topics; International audience; The present study investigates how the CNS deals with the omnipresent force of gravity during arm motor planning. Previous studies have reported direction-dependent kinematic differences in the vertical plane; notably, acceleration duration was greater during a downward than an upward arm movement. Although the analysis of acceleration and deceleration phases has permitted to explore the integration of gravity force, further investigation is necessary to conclude whether feedforward or feedback control processes are at the origin of this incorporation. We considered that a more detailed analysis of…
Functional anatomy of motor recovery after early brain damage
2004
Functional magnetic resonance imaging and transcranial magnetic stimulation were used to examine a 34 year-old right-handed patient, who, at the age of 6 years, had experienced sudden right hemiplegia, seizures, and stupor during a bout of measles encephalitis, followed by incomplete distal right motor recovery. Morphological MRI showed massive unilateral enlargement of the left ventricle, associated with extreme thinning of the white and gray matter, with partial preservation of the pyramidal tract. Functional MRI and transcranial magnetic stimulation revealed reorganization of the motor cortices, and integrity of the corticospinal pathway, respectively. Our findings indicate that complete…
CONSISTENT BONE MARROW-DERIVED CELL MOBILIZATION FOLLOWING REPEATED SHORT COURSES OF GRANULOCYTE-COLONY-STIMULATING FACTOR IN PATIENTS WITH AMYOTROPH…
2009
Background and aims. The aim of this study was to evaluate and characterize the feasibility and safety of bone marrow-derived cell (BMC) mobilization following repeated courses of granulocyte-colony stimulating factor (G-CSF) in patients with amyotrophic lateral sclerosis (ALS). Methods. Between January 2006 and March 2007, 26 ALS patients entered a multicenter trial that included four courses of BMC mobilization at 3-month intervals. In each course, G-CSF (5 mu g/kg b.i.d.) was administered for four consecutive days; 18% mannitol was also given. Mobilization was monitored by flow cytometry analysis of circulating CD34(+) cells and by in vitro colony assay for clonogenic progenitors. Co-exp…
Repetitive TMS of cerebellum interferes with millisecond time processing
2007
Time processing is important in several cognitive and motor functions, but it is still unclear how the human brain perceives time intervals of different durations. Processing of time in millisecond and second intervals may depend on different neural networks and there is now considerable evidence to suggest that these intervals are possibly measured by independent brain mechanisms. Using repetitive transcranial magnetic stimulation (rTMS), we determined that the cerebellum is essential in explicit temporal processing of millisecond time intervals. In the first experiment, subjects' performance in a time reproduction task of short (400-600 ms) and long (1,600-2,400 ms) intervals, were evalua…
Hemispheric cerebellar rTMS to treat drug-resistant epilepsy: case reports.
2005
Electrical stimulation of the cerebellar cortex by implanted electrodes has been shown to ameliorate refractory epilepsy. We investigated the potential therapeutic role of high-frequency cerebellar rTMS in patients affected by refractory epilepsy due to single or multiple foci. Six patients, three with single and three with multiple epileptic foci, underwent 20 rTMS sessions. Each session was given daily, excluding weekends, and consisted of two trains of 50 stimuli (5 Hz frequency and 90% motor threshold intensity), separated by 50s interval. rTMS was delivered through a focal coil (2 cm below and lateral to the inion) bilaterally in patients with multiple foci (two trains for hemisphere: …