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The R2 component of blink reflex recovery cycle (R2BRrc) is a simple neurophysiological tool to detect the brainstem hyperexcitability commonly occurring in several neurological diseases such as Parkinson’s disease and atypical parkinsonisms. In our study, we investigated for the first time the usefulness of R2BRrc to assess brainstem excitability in patients with idiopathic Normal Pressure Hydrocephalus (iNPH) in comparison with healthy subjects. Eighteen iNPH patients and 25 age-matched control subjects were enrolled. R2BRrc was bilaterally evaluated at interstimulus intervals (ISIs) of 100, 150, 200, 300, 400, 500 and 750 ms in all participants. We investigated the diagnostic performance of R2BRrc in differentiating iNPH patients from control subjects using ROC analysis. Midbrain area and Magnetic Resonance Hydrocephalic Index (MRHI), an MRI biomarker for the diagnosis of iNPH, were measured on T1-weighted MR images, and correlations between R2BRrc values and MRI measurements were investigated. Fourteen (78%) of 18 iNPH patients showed an enhanced R2BRrc at ISIs 100–150–200 ms, while no control subjects had abnormal R2BRrc. The mean amplitude of bilateral R2BRrc at the shortest ISIs (100–150–200 ms) showed high accuracy in differentiating iNPH patients from controls (AUC = 0.89). R2BRrc values significantly correlated with midbrain area and MRHI values. This study represents the first evidence of brainstem hyperexcitability in iNPH patients. Given its low cost and wide availability, R2BRrc could be a useful tool for selecting elderly subjects with mild gait and urinary dysfunction who should undergo an extensive diagnostic workup for the diagnosis of NPH.

Objective Neurodegenerative diseases are often characterized by the presence of intracellular or extracellular protein aggregates in the central nervous system. Mutations of TARDBP gene have been shown to cause Amyotrophic Lateral Sclerosis and have been reported to present with clinical heterogeneity including parkinsonism. TDP-43 pathology has been observed across a spectrum of neurodegenerative disorders, including Alzheimer's and Parkinson's disease. Methods In this study we screened 100 sporadic and 165 familial PD patients and control series (450) for the TARDBP gene. All cases and controls included in this study were born and living in Calabria. Results The p.N267S heterozygous mutation was detected in one sporadic PD patient. The p.N267S mutation was not found in a control population of 450 healthy individuals and in our 165 familial PD. Conclusions Sequencing of the TARDBP gene in our patient cohort identified one sporadic PD carrying the p.N267S mutation. This is the first analysis of TARDBP mutation in sporadic PD patient from South Italy.

Type I Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome characterized by facial port wine stain and ipsilateral leptomeningeal angiomatosis. It is commonly complicated by glaucoma and neurological disturbances including seizures, hemiparesis, transient stroke-like deficits, and behavioral problems. Gadolinium-enhanced MRI is the study of choice for demonstrating the leptomeningeal angiomatosis, and is particularly useful for making the diagnosis. Cerebral hematoma and spontaneous obliteration of cerebral angiomatosis have never been reported in SWS. We describe a patient with type I SWS in which a hemorrhage in the left temporal lobe was caused by an underlying angiomatosis. No arteriovenous malformations were detected by brain CT or gadolinium-enhanced MRI, whereas a small angiomatous nidus draining into an ectasic venous collector near the hematoma was disclosed by brain CT angiography. Carotid angiography, performed 3 years after the hemorrhage, demonstrated the spontaneous obliteration of the angioma. This description expands the phenotypic spectrum of type I SWS in which the occurrence of cerebral hemorrhage and MRI-silent cerebral angiomatosis should be included, and emphasizes the need of performing a brain CT angiography in SWS patients whose routine neuroimaging studies fail to detect potentially harmful vessel malformation.

As with other autoimmune diseases, susceptibility to multiple sclerosis (MS) is believed to result from the complex interaction of a number of genes, each with modest effect. Several genome-wide screens have implicated the nitric oxide synthase 2A gene (NOS2A), which encodes the inducible form of nitric oxide synthase, as being potentially associated with MS. To determine whether genetic variants within this gene may constitute a risk factor for causing MS, we investigated 13 single nucleotide polymorphisms in the NOS2A gene, in a case–control group of 214 Italian patients with MS and 121 controls. All these single nucleotide polymorphisms (SNPs) were analyzed using the SNPlex™ Genotyping System (Applied Biosystems). Data were analyzed using Genemapper 4.0 and Haploview 4.1. No significant association between cases and controls (P > 0.05) was observed for the alleles of the SNPs. Defining the haplotype blocks also failed to detect any associated haplotypes. Our results suggest that polymorphic variation within the NOS2A gene does not influence the susceptibility to MS in patients of Italian origin.

The gene encoding the inducible form of Nitric Oxide Synthase (NOS2A) has been considered with interest in the evaluation of the genetic predisposition to Multiple Sclerosis (MS). The aim of the present study was to address the possible contribution of two microsatellites repeats of the NOS2A promoter region – (CCTTT)n and (AAAT)n – to MS susceptibility. One hundred and thirteen Italian patients with clinically definite RRMS and 237 age and sex matched healthy controls from Calabria (South Italy) were studied. The distribution analysis of the markers frequencies showed that the (CCTTT)14 allele was found in 11.5% of the RRMS patients and in 25.3% of the healthy subjects, with a statistically significant difference (χ2 = 8.843, p = 0.003). This data seems to confer a significant protection against MS (OR = 0.348; 95% CI = 0.174 – 0.693, corrected for age and gender). No association with MS susceptibility was observed for the bi-allelic (AAAT)n microsatellite. In conclusion, we found that the NOS2A (CCTTT)14 allele was detected more frequently in the control group than in the RRMS patients, thus confirming the scientific interest on this marker.

The aim of this study was to assess the motor function of upper extremity and its relation with fatigue, cognitive function and quality of life in Multiple Sclerosis (MS) patients.Cross-sectional and controlled study.Outpatient clinic in a university hospital.Thirty-one patients with MS (25 women, 6 men; mean age 39.74 +/- 10.10 years; mean EDSS, 2.56 +/- 1.91) and 30 healthy subjects (20 women, 10 men; mean age 33.56 +/- 8.85 years) were enrolled into the study.Nine-hole peg test (9-HPT) and Valpar Component Work Sample Test (VCWS-4), Upper Extremity Index (UEI), Paced Auditory Serial Addition Test (PASAT), Fatigue Severity Scale (FSS), and the Multiple Sclerosis Quality of Life-54 (MSQOL-54).MS patients showed significant impairment in upper extremity motor functions, cognitive function and excessive fatigue compared to controls (p0.05). 9-HPT in MS group correlated with EDSS, UEI and MSQOL-54 physical health and cognitive function, whereas VCWS-4 scores (assembly right, assembly left and disassembly) correlated only with EDSS and UEI. No correlation was found between the VCWS-4 and cognitive function and fatigue in both of the groups. Compared to control group, a strong correlation existed between the 9-HPT and VCWS-4 in MS patients (p0.05).The results indicate that disability level (EDSS), UEI and cognitive function in MS patients are related with impairment in upper extremity motor function. This again contributes to an impairment in physical domain of quality of life. A strong correlation of the 9-HPT with VCWS-4 supports the use of the 9-HPT as a measure of manual dexterity and gross motor functions.