Search results for "Neurologi"
showing 10 items of 1189 documents
MARITAL STATUS IS A PROGNOSTIC FACTOR IN AMYOTROPHIC LATERAL SCLEROSIS
2017
Background and objectives Several variables have been linked to a shorter survival in patients with amyotrophic lateral sclerosis (ALS), for example, female sex, older age, site of disease onset, rapid disease progression, and a relatively short diagnostic delay. With regard to marital status, previous studies suggested that living with a partner might be associated to a longer survival and a higher likelihood to proceed to tracheostomy. Therefore, to further strengthen this hypothesis, we investigated the role of marital status as a prognostic variable in a cohort of ALS patients. Methods We performed a retrospective analysis on 501 consecutive ALS patients for which a complete disease's n…
Persistent idiopathic hypoglossal nerve palsy: A motor neuron disease-mimic syndrome?
2014
Unilateral isolated hypoglossal nerve palsy (IHNP) is a condition (1–7) usually symptomatic of a pathology of the skull base (6,8). In rare cases, IHNP remains of unknown aetiology and is classifie...
The Relation between Geometry and Time in Mental Actions
2012
Mental imagery is a cognitive tool that helps humans take decisions by simulating past and future events. The hypothesis has been advanced that there is a functional equivalence between actual and mental movements. Yet, we do not know whether there are any limitations to its validity even in terms of some fundamental features of actual movements, such as the relationship between space and time. Although it is impossible to directly measure the spatiotemporal features of mental actions, an indirect investigation can be conducted by taking advantage of the constraints existing in planar drawing movements and described by the two-thirds power law (2/3PL). This kinematic law describes one of th…
A multicentRE observational analysiS of PErsistenCe to Treatment in the new multiple sclerosis era: the RESPECT study.
2018
In this independent, multicenter, retrospective study, we investigated the short-term persistence to treatment with first-line self-injectable or oral disease-modifying treatments (DMTs) in patients with relapsing–remitting multiple sclerosis. Data of patients regularly attending 21 Italian MS Centres who started a self-injectable or an oral DMT in 2015 were collected to: (1) estimate the proportion of patients discontinuing the treatment; (3) explore reasons for discontinuation; (3) identify baseline predictors of treatment discontinuation over a follow-up period of 12 months. We analyzed data of 1832 consecutive patients (1289 women, 543 men); 374 (20.4%) of them discontinued the prescrib…
A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population
2003
We have systematically screened the genome for evidence of linkage disequilibrium (LD) with multiple sclerosis (MS) by typing 6000 microsatellite markers in case-control and family based (AFBAC) cohorts from the Italian population. DNA pooling was used to reduce the genotyping effort involved. Four DNA pools were considered: cases (224 Italian MS patients), controls (231 healthy Italians), index (185 index cases from trio families) and parents (the 370 parents of the patient included in the Index pool), respectively. After refining analysis of the most promising 14 markers to emerge from this screening process, only marker D2S367 retained evidence for association. © 2003 Elsevier B.V. All r…
Heterogeneity in Risk Factors for Cognitive Impairment, No Dementia: Population-Based Longitudinal Study From the Kungsholmen Project
2006
OBJECTIVES: The objectives of this study were to investigate the relation of vascular, neuropsychiatric, social, and frailty-related factors with "Cognitive impairment, no dementia" (CIND) and to verify their effect independently of future progression to Alzheimer disease (AD). METHODS: Seven hundred eighteen subjects aged 75+ years who attended baseline, 3- and 6-year follow-up examinations of the Kungsholmen Project, a Swedish prospective cohort study, were studied. CIND was defined according to the performance on the Mini-Mental State Examination. Potential risk factors were collected at baseline and clustered according to four research hypotheses (frailty, vascular, neuropsychiatric, an…
Mediterranean Diet and Longevity in Sicily: Survey in a Sicani Mountains Population
2012
Over the past several years, increasing evidence suggests that the Mediterranean diet has a beneficial influence on several age-related diseases, showing protective effect on health and longevity. Mediterranean diet refers to dietary patterns found in olive-growing regions of the Mediterranean countries. Previous data reported that in Sicily, Italy, the largest Mediterranean island, there are some mountainous regions where there is a high frequency of male centenarians with respect to the Italian average. The aim of the present study was to characterize centenarians living in one of this region, the Sicani Mountains, located in western Sicily. Present data shows that in this zone there are …
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment.
1999
Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malformations. ARM patients show different degrees of sacral hypodevelopment while the hemisacrum is characteristic of the Currarino syndrome (CS). Cases of CS present an association of ARM, hemisacrum and presacral mass. A gene responsible for CS has recently been mapped in 7q36. Among the genes localized in this critical region, sonic hedgehog (SHH) was thought to represent a candidate gene for CS as well as for ARM with different levels of sacral hypodevelopment according to its role in the differentiation of midline mesoderm. By linkage analysis we confirmed the critical region in one large fam…
Prognosis of migraine headaches in adolescents: a 10-year follow-up study.
2006
Objective: To determine the long-term outcome of migraine headaches in adolescents and to identify possible predictors of prognosis. Methods: Fifty-five of 80 subjects with migraine headaches (ages 11 to 14 years), who attended the baseline examination of a population-based study conducted in southern Italy in 1989, were eligible for follow-up in 1999. All interviews and examinations were conducted by neurologists, and migraine diagnoses were based on the International Headache Society (IHS) criteria. The association between possible prognostic factors and the long-term persistence of migraine headaches was explored using logistic regression analysis. Results: Of 55 subjects with migraine h…
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model
2019
Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The TBC1D24 protein consists of the unique association of a Tre2/Bub2/Cdc16 (TBC) domain and a TBC/lysin motif domain/catalytic (TLDc) domain. More than 50 missense and loss-of-function mutations have been described and are spread over the entire protein. Through whole genome/exome sequencing we identified compound heterozygous mutations, R360H and G501R, within the TLDc domain, in an index family with a Rolandic epilepsy exercise-induced dystonia phenotype (http://omim.org/entry/608105). A 20-year long clinical follow-up revealed that epilepsy was self-limited in…