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Objective: The pathophysiology of migraine with or without aura (MA, MO) is still a matter of debate. We thus studied patients with MA and MO by means of paired-pulse flash-visual evoked potentials (paired F-VEPs). This technique, recently revived, analyses the overall excitability of visual system as detected from the cortical occipital signal., Methods: We enrolled 13 adult patients with MO and 13 with MA. Twenty-two normal subjects of similar age and sex acted as controls. Stimuli were single flashes, intermingled at random to flash pairs at critical interstimulus intervals (ISIs, 16.5-125ms) with closed and open eyes. The "single"(unconditioned) F-VEP was split into a "main complex" (50-200ms after the flash) and a "late response" (200-400ms). As for paired stimulation, the "test" F-VEP emerged from electronic subtraction of the "single" F-VEP to the "paired" F-VEP. Its size was expressed as "test"/"single"F-VEP∗100., Results: As for paired F-VEPs, the "main complex" of the "test" F-VEP in the MA group did not show the size reduction (at ISIs 50-62.5ms) which was typical among the control and MO groups (p⩽0.016) in the "eyes-closed" state., Conclusions: Paired F-VEPs document a defective neural inhibition in the visual system of patients with MA., Significance: Paired F-VEPs may warrant inclusion in future preclinical/clinical studies, to evaluate its potential role in the pathophysiology and management of MA., (Copyright © 2014 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.)

Objectives/background: We herein investigated the role of polymorphisms in calcitonin gene-related peptide (CGRP)-related genes looking at the association of rs3781719 (T > C) in the calcitonin gene-related polypeptide-alpha (CALCA) gene and of rs3754701 (T > A) and rs7590387 (C > G) at the receptor activity modifying 1 (RAMP1) locus with triptan response in patients with migraine without aura (MwoA). In addition, their role was evaluated as risk factors for transformation of episodic migraine into medication overuse headache (MOH). The CGRP has a central role in the pathogenesis of migraine; however, little information is currently available concerning the role of polymorphisms in CGRP-related genes as determinants of clinical response to anti-migraine drugs or as risk factors for migraine chronification., Methods: Genotyping was conducted retrospectively by real-time polymerase chain reaction allelic discrimination assay in 219 patients with MwoA and 130 with MOH in whom migraine was the primary headache type. Gene variants association was evaluated by logistic regression analysis adjusted by confounding factors. The threshold of statistical significance was set according to the total number of polymorphisms analyzed in the current study and in previous publications arising from overlapping datasets., Results: No evidence of association was found between the three polymorphisms tested and triptan response in MwoA patients. Conversely, carriers of RAMP1 rs7590387GG displayed a lower risk of episodic migraine transformation into MOH (vs C allele carriers, odds ratio [OR]: 0.27, 95% confidence interval [CI]: 0.13-0.57, P = 0.0002; threshold of significance set at P < 0.0029). When genotype distribution for RAMP1 rs7590387 was compared between healthy controls (n = 209) and MOH patients, carriers of rs7590387GG were found at lower risk of developing MOH (OR: 0.43, 95%CI: 0.22-0.85, P = 0.011)., Conclusion: These results suggest that RAMP1 rs7590387 may have a role in the transformation of episodic migraine into MOH., (© 2015 American Headache Society.)

The present study was designed to replicate previous findings reporting a significant association between the rs548294 polymorphism at the glutamate receptor subunit GluR1 gene (GRIA1) and migraine without aura, either as a single marker or in haplotype combination with rs2195450. In addition, the role of GRIA1 polymorphisms and haplotypes was evaluated in migraine patients without aura as predictive factors for consistency in headache response to triptans. Analysis of rs548294 and rs2195450 polymorphisms of GRIA1 was conducted by Real-time PCR allelic discrimination assay in 186 migraine patients without aura and 312 healthy controls, respectively. In the logistic regression analysis adjusted for gender and age, genotype and haplotype frequencies for the two polymorphisms did not significantly differ between migraine patients without aura and controls. In addition, no evidence of association was found between GRIA1 polymorphisms/haplotypes and consistent response to triptans. This study failed to replicate previously reported association between GRIA1 rs548294 and migraine without aura, either as single marker or when analyzed in haplotype combination with rs2195450. In addition, no evidence was found for a relevant role of GRIA1 polymorphisms and haplotypes as modulating factors of headache response to triptans.

Unlabelled: Genetic variation in the COMT gene is thought to have clinical implications for pain perception and pain treatment. In the present study, we first evaluated the association between COMT rs4680 and the analgesic response to intrathecal morphine in patients with chronic low back pain to provide confirmation of previously reported positive findings. Next, we assessed the relationship between rs4680 and headache response to triptans in 2 independent cohorts of migraine patients. In patients with chronic low back pain (n = 74), logistic stepwise regression analysis showed that age (odds ratio [OR]: .90, 95% confidence interval [CI]: .85-.96, P = .002) and the presence of the COMT Met allele (vs Val/Val, OR: .21, 95% CI: .04-.98, P = .048) were predictive factors for lower risk of poor analgesic response to intrathecal morphine. Intriguingly, in migraine patients, the COMT rs4680 polymorphism influenced headache response to triptans in the opposite direction. Indeed, in an exploratory cohort of migraine patients without aura (n = 75), homozygous carriers of the COMT 158Met allele were found at increased risk to be poor responders to frovatriptan when compared to homozygous patients for the Val allele (OR: 5.20, 95% CI: 1.25-21.57, P = .023). In the validation cohort of migraine patients treated with triptans other than frovatriptan (n = 123), logistic stepwise regression analysis showed that use of prophylactic medications (OR: .43, 95% CI: .19-.99, P = .048) and COMT Met/Met genotype (vs Val/Val, OR: 4.29, 95% CI: 1.10-16.71, P = .036) were independent risk factors for poor response to triptans., Perspective: This study highlights the importance of COMT rs4680 in influencing the clinical response to drugs used for chronic pain, including opioid analgesics and triptans. These findings also underline a complex relationship between COMT genotypes and pain responder status., (Copyright © 2013 American Pain Society. Published by Elsevier Inc. All rights reserved.)

Neurolymphomatosis (NL) is a rare peripheral or cranial neuropathy caused by non-Hodgkin's lymphoma (NHL). Diagnosis is often delayed and prognosis is poor. The authors described a woman in her 70s with a facial left peripheral palsy, complete right abducent palsy, left hypoacusia and balance deficit. Then she presented with low progressive hyposthenia at four limbs and cognitive impairment, sudden facial right peripheral palsy and complete left abducent palsy. The authors performed brain and spinal MRI, cerebrospinal fluid (CSF) analysis and extensive haematological examinations for infections, autoimmune and neoplastic diseases. All the results were not diagnostic. Only repeating for the third time a spinal tap, CSF presented neoplastic B cells suggestive for large B-NHL. The authors diagnosed primary NL. The patient was treated with R-CHOP but she died 2 months later. In front of rapidly progressive neuropathy, a NL has to be considered performing different examinations, especially and repeating them after a short period.

Posterior alien hand syndrome usually involves the non-dominant hand with lesions usually in the right hemisphere. This is the first case in a left-handed person, involving the dominant hand.

The aim of the present observational study was to assess the value of the C825T polymorphism of the beta-3 subunit of G proteins (GNB3) as well as of variants in the SLC6A4 gene (5HTTLPR and STin2 VNTR) and DRD2 gene (TaqI A and NcoI) as predictive markers for consistency in headache response to triptans in migraine patients. Consistent responders to triptans were defined as the migraineurs who experienced a > or =2 point reduction in a 4-point scale intensity of pain from 3 (severe) to 0 (absent) 2h after triptan administration, in at least two attacks out of the three. Genotyping was performed by PCR and PCR-RFLP on genomic DNA extracted from peripheral blood. The impact of clinical and biological variables on consistency status of headache response to triptans was evaluated by using a binary logistic regression model with stepwise selection. Forty-three (33%) of the 130 migraine patients included in the study did not consistently respond to triptan administration. In a binary logistic regression model, STin 2.12/12 genotype (OR=3.363, 95% CI: 1.262-8.966, P=0.005) and non-use of migraine prophylactic medications (OR=2.848, 95% CI: 1.019-7.959, P=0.010) were found as significant factors increasing the odds of achieving inconsistent response to triptans. The analysis of classificatory power of the model showed moderate values of sensitivity (0.56), high specificity (0.87), and an overall prediction correctness (0.77). These results support the role of STin2 VNTR polymorphism of serotonin transporter gene as a relevant genetic factor conferring a higher risk of inconsistent response to triptans in migraine patients., (Copyright (c) 2010 Elsevier B.V. All rights reserved.)

Cluster headache (CH) is a well-defined primary headache syndrome, but cases of symptomatic headache with clinical features of CH have been previously reported. Idiopathic Intracranial Hypertension (IIH) is a secondary headache disorder characterized by headache and visual symptoms, without clinical, radiological or laboratory evidence of intracranial pathology. Both papilloedema and IIH-related headache are typically bilateral, however asymmetrical or even unilateral localizations are described in literature. We report the case of a previously headache-free woman who presented cluster-like headache and asymmetrical papilloedema related to IIH. In our opinion the asymmetrical presentation supports, in this case, the hypothesis of cavernous sinus involvement in the IIH-related cluster-like headache pathogenesis.

The authors report two cases of spasmus nutans (a clinical syndrome peculiar to infancy the complete form of which is characterised by nystagmus, rhythmic head movements and wryneck) in two extra-EEC infants. The following elements were present in both patients: scarce exposure to light, early introduction of whole cow's milk, rachitic stigmata, dark skin, poor socio-economic conditions and rapid and complete remission of symptoms following daily exposure to sunlight. It is important to distinguish spasmus nutans, a completely benign and self-restricting disease, from potentially severe conditions which may appear with similar symptoms. It should be expected that this clinical condition will become more frequent in view of the considerable increase in the size of the non-EEC population.

Metoclopramide is an antiemetic drug; the effects on CNS (acute dystonic reaction, tardive dyskinesia, parkinsonism) occur in only 1 of 500 patients treated. Acute dystonic reactions are not apparently dose-dependent and suggest individual sensitivity to the drug (idiosyncrasia). We report 4 cases in 2 families (grandmother-grandchild; brother-sister). We feel that, if there is a case of dystonic reaction to metoclopramide, this drug should not be administered to other members of the same family.

A postal questionnaire was sent to all patients affected by hereditary ataxias and hereditary spastic paraparesis resident in the province of Turin (Italy) to study their diagnostic process. A 61% response rate was obtained. The mean time interval between onset and diagnosis was 6 years (1 to 32 years). The percentage of late diagnoses dropped from 59% before 1959 to 19% after 1970, mostly because a reduction of the interval between symptom onset and the first contact with the general practitioner. The onset with dysarthria and ataxia led to earlier neurologic consultation, but the whole time requested for the diagnosis was not modified. A reduction of the time needed for the diagnostic process may be important to address the family to an early genetic counselling.

A postal questionnaire was sent to 151 patients affected by Friedreich's disease (FD) and other hereditary ataxias (OHA) to study their disability and quality of life. A 79.5% response rate was obtained. A scoring system based on disability in walking, dressing, personal care, eating and speaking was developed and used. Walking was the most impaired activity. The degree of disability was similar between FD and OHA. Institutionalization, frequency of social contacts, work activity, recreational and social activities were influenced by disability.