The objective of this study was to investigate the associ-ation between polymorphisms of the hypo... more The objective of this study was to investigate the associ-ation between polymorphisms of the hypocretin receptor 2 gene (HCRTR2) and the risk of cluster headache (CH). The study is a meta-analysis of published case-control studies investigating the association between polymor-phisms of the HCRTR2 gene and CH. Pooled odds ratios (OR) were estimated using both random (RE) and fixed effects (FE) models. Three studies, performed in five different European countries, with 593 cases and 599 controls, were included in the study. Allele G of the G1246A HCRTR2 polymor-phism was significantly associated with CH (FE OR 1.58, CI 95%
In Parkinson's disease the decrease of dopamine in the nigro-striatal pathway is allied to mo... more In Parkinson's disease the decrease of dopamine in the nigro-striatal pathway is allied to modifications of other neuromodulation systems. The biochemical disorder of cholinergic, gabaergic and epinephrinergic pathways is present. Moreover the alteration of certain neuropeptides such as endorphins or enkefalins have been found. The Authors analyse the functional repercussions of these important biochemical modifications in the T.I.D.A. tract. In particular the variation of PRL synthesis and secretion due to dopamine deficiency during basal conditions and after pharmacological treatment is discussed.
A descriptive epidemiological survey conducted in Turin on a population of 1,065,304 in Jan. 1-Ju... more A descriptive epidemiological survey conducted in Turin on a population of 1,065,304 in Jan. 1-June 30 1984, produced preliminary data on the incidence of MS. Given the restricted area and brief duration of the survey, such data are however purely indicative. Primarily clinical criteria supported by instrumental and laboratory tests (P., Ev., liquor) were uniformly adopted.
This paper examines recent epidemiological and molecular genetic studies on the genetic basis of ... more This paper examines recent epidemiological and molecular genetic studies on the genetic basis of Alzheimer's disease (AD). Recent epidemiological studies have shown the existence of a genetic etiology in some cases of Alzheimer's disease. Several pedigrees with an increased incidence of AD (familial Alzheimer's disease--FAD) have been described in the literature. Some of these contain sufficient numbers of affected individuals in multiple generations to provide a rigorous argument for an autosomal dominant inheritance of the AD phenotype. FAD pedigrees show several evidences of as phenotypic heterogeneity of the disease. Molecular genetic studies have shown a linkage between several polymorphic DNA markers specific for the pericentromeric region of chromosome 21 and early-onset FAD. In late-onset FAD pedigrees preliminary reports showed evidence for a linkage with chromosome 19 markers. Molecular genetic studies have clearly demonstrated the genetic heterogeneity of fami...
We report the case of a patient who developed typical cluster headache attacks and was diagnosed ... more We report the case of a patient who developed typical cluster headache attacks and was diagnosed as having multiple scle-rosis (MS) at the same time. The headache attacks resolved after i.v. treatment with methylpred-nisolone. MR imaging showed a pontine demyelinating lesion involving the trigeminal nerve root inlet area, on the same side as the pain. The association between cluster headache and MS has been rarely described before. This case suggests that in patients with clus-ter headache neuroimaging is often useful in order to exclude structur-al lesions.
Although the literature recognises the involvement of neuropeptide structures in the genesis of e... more Although the literature recognises the involvement of neuropeptide structures in the genesis of epilepsy, only tentative preliminary data are available at present. Experiments indicate that neuropeptides primarily involved in the genesis of epilepsy are leuencephalin, metencephalin and beta-endorphin. Their convulsion properties are apparently related to the specific levels, locations and convulsive potential of the individual substances. A qualitative and/or quantitative change to the GABA-neuropeptide balance may also be involved in convulsive disorders; decreased GABA fluid levels have been identified in both severely epileptic patients and infants with febrile convulsions. Neuropeptide modulation and GABAergic neurotransmission clearly therefore play a major role in the regulation of cortical bioelectrical activity. It is therefore likely that their interaction is involved in the genesis of epilepsy.
The pathogenesis of intracranial aneurysms is still uncertain. In addition to atherosclerosis, im... more The pathogenesis of intracranial aneurysms is still uncertain. In addition to atherosclerosis, immunological factors may play a role in the disease. Recent studies have suggested that tumor necrosis factor-alpha (TNF-alpha), one of the main proinflammatory cytokines, may play a key role in the formation and rupture of cerebral aneurysms. The purpose of this study is to evaluate the association of a functionally active polymorphism (-308 G<A) in the TNF-alpha gene with the risk and the clinical features of aneurysmal subarachnoid hemorrhage. A total of 171 consecutive aneurysmal subarachnoid hemorrhage patients and 144 healthy controls were involved in the study. Computed tomographic scan findings were assessed by Fisher grade; clinical neurological assessment was performed using the Hunt and Hess grading system. Patients and controls were genotyped for the-308 biallelic (G<A) polymorphism of the TNF-alpha gene. The TNF-alpha G allele was significantly more frequent in patients than in controls (chi2 = 5.59; P = 0.0181) and homozygosity for the G allele, compared with remaining genotypes, was associated with a significantly increased risk of aneurysmal subarachnoid hemorrhage (odds ratio = 2.20; 95% confidence interval = 1.29<odds ratio<3.75). Allelic and genotypic frequencies of the examined polymorphism were not significantly different in disease subgroups. The different TNF-alpha genotypes do not seem to significantly modify the main clinical features of the disease. Our data suggests that the TNF-alpha gene or a linked locus significantly modulates the risk for aneurysmal subarachnoid hemorrhage. Additional studies in different populations are warranted to confirm our findings.
Journal of Neurology, Neurosurgery & Psychiatry, 2008
Several lines of evidence indicate a role for inflammatory processes in the development of cerebr... more Several lines of evidence indicate a role for inflammatory processes in the development of cerebral aneurysms. Recently, polymorphisms in the promoter region of the interleukin 6 (IL6) gene were shown to be associated with intracranial aneurysmal disease. The purpose of this study was to verify the association of two functionally active polymorphisms (-174 G>C and -572 G>C) in the promoter region of the IL6 gene with the risk and clinical features of aneurysmal subarachnoid haemorrhage (SAH) in an Italian population. A total of 179 consecutive aneurysmal SAH patients and 156 healthy controls were involved in the study. Cases and controls were genotyped for the -174 G<C and the -572 G<C biallelic polymorphisms of the IL6 gene. The frequencies of different promoter haplotypes were compared between cases and controls. Allelic and genotypic frequencies of the examined polymorphism were not significantly different between cases and controls. Inferred haplotypes were not significantly different in both groups. Finally, the different IL6 genotypes did not seem to significantly modify the main clinical features of the disease. Our study did not confirm the association between functionally active polymorphisms in the IL6 gene and the risk of aneurysmal SAH in an Italian population. Additional studies in different populations are warranted to clarify the role of the IL6 gene in the pathogenesis of aneurysmal SAH.
To assess the sensitivity of 5-HT1D receptors in chronic tension-type headache using sumatriptan ... more To assess the sensitivity of 5-HT1D receptors in chronic tension-type headache using sumatriptan as a pharmacological probe. Previous studies have suggested involvement of serotonergic systems in chronic tension-type headache (CTTH), but relevant experimental data are limited. Sumatriptan, a 5-HT1B/1D receptor agonist, stimulates the release of growth hormone (GH) and inhibits the release of ACTH, cortisol, and prolactin. These effects may be used to explore the function of serotonergic systems in vivo. We measured GH, ACTH, cortisol and prolactin (PRL) plasma concentrations in 15 patients with chronic tension-type headache and in 18 healthy controls after subcutaneous administration of sumatriptan (6 mg) or placebo. Placebo administration had no effect on hormone concentrations. GH and PRL secretion after sumatriptan administration was significantly (P<0.01 and <0.05) altered in CTTH patients in comparison with controls. Our results suggest that cerebral serotonergic functions mediated by 5-HT1D receptors are altered in CTTH.
The objective of this study was to investigate the associ-ation between polymorphisms of the hypo... more The objective of this study was to investigate the associ-ation between polymorphisms of the hypocretin receptor 2 gene (HCRTR2) and the risk of cluster headache (CH). The study is a meta-analysis of published case-control studies investigating the association between polymor-phisms of the HCRTR2 gene and CH. Pooled odds ratios (OR) were estimated using both random (RE) and fixed effects (FE) models. Three studies, performed in five different European countries, with 593 cases and 599 controls, were included in the study. Allele G of the G1246A HCRTR2 polymor-phism was significantly associated with CH (FE OR 1.58, CI 95%
In Parkinson's disease the decrease of dopamine in the nigro-striatal pathway is allied to mo... more In Parkinson's disease the decrease of dopamine in the nigro-striatal pathway is allied to modifications of other neuromodulation systems. The biochemical disorder of cholinergic, gabaergic and epinephrinergic pathways is present. Moreover the alteration of certain neuropeptides such as endorphins or enkefalins have been found. The Authors analyse the functional repercussions of these important biochemical modifications in the T.I.D.A. tract. In particular the variation of PRL synthesis and secretion due to dopamine deficiency during basal conditions and after pharmacological treatment is discussed.
A descriptive epidemiological survey conducted in Turin on a population of 1,065,304 in Jan. 1-Ju... more A descriptive epidemiological survey conducted in Turin on a population of 1,065,304 in Jan. 1-June 30 1984, produced preliminary data on the incidence of MS. Given the restricted area and brief duration of the survey, such data are however purely indicative. Primarily clinical criteria supported by instrumental and laboratory tests (P., Ev., liquor) were uniformly adopted.
This paper examines recent epidemiological and molecular genetic studies on the genetic basis of ... more This paper examines recent epidemiological and molecular genetic studies on the genetic basis of Alzheimer's disease (AD). Recent epidemiological studies have shown the existence of a genetic etiology in some cases of Alzheimer's disease. Several pedigrees with an increased incidence of AD (familial Alzheimer's disease--FAD) have been described in the literature. Some of these contain sufficient numbers of affected individuals in multiple generations to provide a rigorous argument for an autosomal dominant inheritance of the AD phenotype. FAD pedigrees show several evidences of as phenotypic heterogeneity of the disease. Molecular genetic studies have shown a linkage between several polymorphic DNA markers specific for the pericentromeric region of chromosome 21 and early-onset FAD. In late-onset FAD pedigrees preliminary reports showed evidence for a linkage with chromosome 19 markers. Molecular genetic studies have clearly demonstrated the genetic heterogeneity of fami...
We report the case of a patient who developed typical cluster headache attacks and was diagnosed ... more We report the case of a patient who developed typical cluster headache attacks and was diagnosed as having multiple scle-rosis (MS) at the same time. The headache attacks resolved after i.v. treatment with methylpred-nisolone. MR imaging showed a pontine demyelinating lesion involving the trigeminal nerve root inlet area, on the same side as the pain. The association between cluster headache and MS has been rarely described before. This case suggests that in patients with clus-ter headache neuroimaging is often useful in order to exclude structur-al lesions.
Although the literature recognises the involvement of neuropeptide structures in the genesis of e... more Although the literature recognises the involvement of neuropeptide structures in the genesis of epilepsy, only tentative preliminary data are available at present. Experiments indicate that neuropeptides primarily involved in the genesis of epilepsy are leuencephalin, metencephalin and beta-endorphin. Their convulsion properties are apparently related to the specific levels, locations and convulsive potential of the individual substances. A qualitative and/or quantitative change to the GABA-neuropeptide balance may also be involved in convulsive disorders; decreased GABA fluid levels have been identified in both severely epileptic patients and infants with febrile convulsions. Neuropeptide modulation and GABAergic neurotransmission clearly therefore play a major role in the regulation of cortical bioelectrical activity. It is therefore likely that their interaction is involved in the genesis of epilepsy.
The pathogenesis of intracranial aneurysms is still uncertain. In addition to atherosclerosis, im... more The pathogenesis of intracranial aneurysms is still uncertain. In addition to atherosclerosis, immunological factors may play a role in the disease. Recent studies have suggested that tumor necrosis factor-alpha (TNF-alpha), one of the main proinflammatory cytokines, may play a key role in the formation and rupture of cerebral aneurysms. The purpose of this study is to evaluate the association of a functionally active polymorphism (-308 G<A) in the TNF-alpha gene with the risk and the clinical features of aneurysmal subarachnoid hemorrhage. A total of 171 consecutive aneurysmal subarachnoid hemorrhage patients and 144 healthy controls were involved in the study. Computed tomographic scan findings were assessed by Fisher grade; clinical neurological assessment was performed using the Hunt and Hess grading system. Patients and controls were genotyped for the-308 biallelic (G<A) polymorphism of the TNF-alpha gene. The TNF-alpha G allele was significantly more frequent in patients than in controls (chi2 = 5.59; P = 0.0181) and homozygosity for the G allele, compared with remaining genotypes, was associated with a significantly increased risk of aneurysmal subarachnoid hemorrhage (odds ratio = 2.20; 95% confidence interval = 1.29<odds ratio<3.75). Allelic and genotypic frequencies of the examined polymorphism were not significantly different in disease subgroups. The different TNF-alpha genotypes do not seem to significantly modify the main clinical features of the disease. Our data suggests that the TNF-alpha gene or a linked locus significantly modulates the risk for aneurysmal subarachnoid hemorrhage. Additional studies in different populations are warranted to confirm our findings.
Journal of Neurology, Neurosurgery & Psychiatry, 2008
Several lines of evidence indicate a role for inflammatory processes in the development of cerebr... more Several lines of evidence indicate a role for inflammatory processes in the development of cerebral aneurysms. Recently, polymorphisms in the promoter region of the interleukin 6 (IL6) gene were shown to be associated with intracranial aneurysmal disease. The purpose of this study was to verify the association of two functionally active polymorphisms (-174 G>C and -572 G>C) in the promoter region of the IL6 gene with the risk and clinical features of aneurysmal subarachnoid haemorrhage (SAH) in an Italian population. A total of 179 consecutive aneurysmal SAH patients and 156 healthy controls were involved in the study. Cases and controls were genotyped for the -174 G<C and the -572 G<C biallelic polymorphisms of the IL6 gene. The frequencies of different promoter haplotypes were compared between cases and controls. Allelic and genotypic frequencies of the examined polymorphism were not significantly different between cases and controls. Inferred haplotypes were not significantly different in both groups. Finally, the different IL6 genotypes did not seem to significantly modify the main clinical features of the disease. Our study did not confirm the association between functionally active polymorphisms in the IL6 gene and the risk of aneurysmal SAH in an Italian population. Additional studies in different populations are warranted to clarify the role of the IL6 gene in the pathogenesis of aneurysmal SAH.
To assess the sensitivity of 5-HT1D receptors in chronic tension-type headache using sumatriptan ... more To assess the sensitivity of 5-HT1D receptors in chronic tension-type headache using sumatriptan as a pharmacological probe. Previous studies have suggested involvement of serotonergic systems in chronic tension-type headache (CTTH), but relevant experimental data are limited. Sumatriptan, a 5-HT1B/1D receptor agonist, stimulates the release of growth hormone (GH) and inhibits the release of ACTH, cortisol, and prolactin. These effects may be used to explore the function of serotonergic systems in vivo. We measured GH, ACTH, cortisol and prolactin (PRL) plasma concentrations in 15 patients with chronic tension-type headache and in 18 healthy controls after subcutaneous administration of sumatriptan (6 mg) or placebo. Placebo administration had no effect on hormone concentrations. GH and PRL secretion after sumatriptan administration was significantly (P<0.01 and <0.05) altered in CTTH patients in comparison with controls. Our results suggest that cerebral serotonergic functions mediated by 5-HT1D receptors are altered in CTTH.
Uploads
Papers by L. Pinessi