Prevalence of diabetic neuropathy with somatic symptoms: A door-to-door survey in two Sicilian municipalities

In a door-to-door survey conducted in two municipalities of Sicily, we ascertained the prevalence of diabetic neuropathy. Our case-finding was restricted to subjects with somatic symptoms. During phase 1, we administered a screening instrument for peripheral neuropathy to 14,540 persons residing in Santa Teresa di Riva (Messina Province) and Terrasini (Palermo Province). During phase 2, neurologists evaluated those subjects who had screened positive. Diagnoses were based on clinical criteria only, and were reviewed by an adjudication panel. We found 39 persons (27 women, 12 men) affected by diabetic neuropathy. The crude prevalence, as of November 1, 1987, was 268.2 cases per 100,000 popula…

Positive or negative involvement of heat-shock proteins in multiple sclerosis pathogenesis: an overview.

Corrigendum to “Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans” [J. Neuroimmunol. 179 (2006) 108–116]

Synergistic effects of neurons and astrocytes on the differentiation of brain capillary endothelial cells in culture

Brain capillary endothelial cells form a functional barrier between blood and brain, based on the existence of tight junctions that limit paracellular permeability. Occludin is one of the major transmembrane proteins of tight junctions and its peripheral localization gives indication of tight junction formation. We previously reported that RBE4.B cells (brain capillary endothelial cells), cultured on collagen IV, synthesize occludin and correctly localize it at the cell periphery only when cocultured with neurons. In the present study, we describe a three-cell type-culture system that allowed us to analyze the combined effects of neurons and astrocytes on differentiation of brain capillary …

Rat CNS neurons are not yet programmed to shorten their chromatin repeat length at the end of fetal neurogenesis.

Neurons from rat fetal cerebral hemispheres were grown in a synthetic medium (Maat medium), as previously described, for different periods of time. The repeat length of their chromatin was determined by micrococcal nuclease digestion and compared with that of neurons isolated from postnatal rat brain of corresponding ages. In contrast to the in vivo situation, we found that neurons, dissociated at the 16th gestational day and cultured in vitro, did not undergo the shortening of their chromatin repeat, thus indicating that, at the end of their mitotic cycles, they are not yet programmed to this event. © 1986.

Is season of birth associated with multiple sclerosis?

Objective - To compare the monthly distribution of multiple sclerosis (MS) patients' births with that of the Sicilian population. Background - Studies on the association between season of birth and risk of MS are scanty and controversial. Design and methods - Archives of the Institute of Neuropsychiatry of the Universities of Palermo and Catania were searched up to 1995 for definite MS patients (McDonald and Halliday criteria). The monthly distribution of MS patients' births (N = 965) was compared with that of the Sicilian population (N = 5,608,307). Results - The distribution of births among MS patients compared with the general population was not different when tested by the χ2 statistic …

Effect of organizational features on patient satisfaction with care in Italian multiple sclerosis centres

Background and purpose Receiving clear, complete and up-to-date information and having a satisfying relationship with the health professional (HP) are of primary importance for MS patients. Healthcare organization plays a key role in promoting an effective relationship and communication between patients and HPs. The present study aims to explore which care organization and service characteristics provided by Italian MS centres best predict patients’ satisfaction with healthcare. Methods Eighty-one centres and 707 patients (502 women, mean age 40.5 years, SD 10.2; mean education 12.2 years, SD 3.6; time since diagnosis 5.9 years, SD 1.5) were included in the analysis. The care organization a…

Migraine and cranial autonomic symptoms in children and adolescents: a clinical study.

The frequency of cranial autonomic symptoms in children affected by primary headaches is uncertain. The aim of our study was to estimate the frequency of symptoms in pediatric headaches and correlate it with main migraine characteristics. A questionnaire investigating the presence of cranial autonomic symptoms was administered to all children with primary headache for 2 years. A total of 230 children with primary headache (105 males, 125 females) were included. Two hundred two children were affected by migraine and 28 (12.2%) by other primary headaches. Cranial autonomic symptoms were significantly complained by migraineurs (55% vs 17.8%) ( P < .001) and by children with higher frequenc…

High incidence and increasing prevalence of MS in Enna (Sicily), southern Italy

Twenty years after a first survey, a follow-up study was performed on the prevalence of MS in Enna (Sicily), southern Italy. The prevalence of definite MS rose from 53 to 120.2 per 100,000 population. The incidence of definite MS for the period 1986 to 1995 was 5.7 per 100,000 per year. The innermost part of Sicily shows an elevated prevalence of MS, second only to Sardinia in the Mediterranean area.

Prevalence of essential tremor: A door–to-door survey in terrasini, sicily

As part of a door-to-door neuroepidemiologic survey, we investigated the frequency and distribution of essential tremor (ET) in a Sicilian municipality. During phase 1, we administered a screening instrument for tremor to 7,653 persons residing in Terrasini (Palermo province). During phase 2, neurologists evaluated those subjects who had screened positive. The diagnoses, based on specified clinical criteria, were reviewed to increase reliability across neurologists. We found 31 subjects affected by ET (17 men, 14 women); 11 patients (35.5%) reported a familial aggregation. The prevalence of ET as of November 1, 1987, was 405.1 per 100,000 for the total population, and 1,074.9 per 100,000 fo…

Autosomal dominant hereditary spastic paraplegia: report of a large italian family with R581X spastin mutation

We describe a large kindred with a typical pure form of autosomal dominant hereditary spastic paraplegia (ADHSP). On the basis of maximum LOD score of 1.94 at theta (max)=0 with marker D2S367, we obtained suggestive evidence for linkage of ADHSP to SPG4 locus. Denaturing high-performance liquid chromatography (DHPLC) and direct sequence analysis allowed us to identify a nonsense mutation (1741* C > T) in exon 17 of the Spastin gene. This transition, carried by all the affected family members and two apparently healthy individuals, lead to truncation of the last 36 amino acids in the C-terminus of the protein. These results confirm the existence of mutation in the SPG4 gene with a reduced pe…

Genetic epidemiology of Parkinson's disease

The HLA locus and multiple sclerosis in Sicily

The authors report the analysis of HLA-class II allelic heterogeneity in a well characterized multiple sclerosis (MS) Sicilian dataset. Family-based association analysis revealed evidence for excess transmission to affected individuals for alleles HLA-DRB1*1501, DRB1*04, and DQB1*0302. When analyzed as haplotypes, the authors observed excess transmission for the DRB1*0400-DQB1*0302 haplotype. Sicilian patients share the HLA-DRB1*1501 susceptibility allele with affecteds living in continental Italy, but also display the allelic heterogeneity that characterizes Mediterranean populations.

Prevalence of epilepsy. A door-to-door survey in the Sicilian community of Riposto.

In a door-to-door survey of common neurological disorders in Sicily (SNES Project), we administered a screening symptoms questionnaire and a brief neurological examination to detect epileptic patients. All of the subjects effectively resident in the community of Riposto on 1 November 1987 (prevalence day) were investigated (n = 9956). The subjects with a positive questionnaire or a previous diagnosis of epilepsy were extensively examined by a neurologist and then definitively classified for epilepsy by a panel of senior neurologists. The crude prevalence of active and non-active epilepsy was 3.21/1000; the prevalence of active epilepsy alone was 2.71/1000. Of the 27 active cases, sixteen we…

STUDIES ON NORMAL AND DENERVATED SKELETAL MUSCLE CHROMATIN

Publisher Summary This chapter presents studies on normal and denervated skeletal muscle chromatin. It has been reported that the inhibitors of RNA and protein synthesis can prevent the appearance of some biochemical modifications of muscle, generally induced by denervation. This observation suggests that the gene expression of muscle fiber is under motoneuron control. On the other hand, it is well known that in eukaryotic cells exists a close relationship between chromatin properties and the gene expression. In a study, some properties of normal and 7-days denervated muscle chromatin were investigated to establish whether the changes in protein metabolism in denervated skeletal muscle are …

Transcranial direct current stimulation for treatment of freezing of gait: a cross-over study.

BACKGROUND AND OBJECTIVE: Progression of Parkinson's disease (PD) is frequently characterized by the occurrence of freezing of gait (FOG) representing a disabling motor complication. We aim to investigate safety and efficacy of transcranial direct current stimulation of the primary motor cortex of PD patients with FOG. METHODS: In this cross-over, double-blind, sham-controlled study, 10 PD patients with FOG persisting in "on" state underwent anodal and sham direct current stimulation for 5 consecutive days. Clinical assessment over a 1-month period was performed. RESULTS: A significant improvement of gait, as assessed by the Stand Walk Sit test, with reduction in number and duration of FOG …