Biomedical subjects

Lorenzo Pinessi

Publications and source records attributed to Lorenzo Pinessi.

15 recordsLinked to original sources

PubMed2007

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.

The recycling of the amyloid precursor protein (APP) from the cell surface via the endocytic pathways plays a key role in the generation of amyloid beta peptide (Abeta) in Alzheimer disease. We report here that inherited variants in the SORL1 neuronal sorting receptor are associated with late-onset Alzheimer disease. These variants, which occur in at least two different clusters of intronic sequences within the SORL1 gene (also known as LR11 or SORLA) may regulate tissue-specific expression of SORL1. We also show that SORL1 directs trafficking of APP into recycling pathways and that when SORL1 is underexpressed, APP is sorted into Abeta-generating compartments. These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease.

Age of Onset↗

PubMed2007

Anger, depression and personality dimensions in patients with migraine without aura.

BACKGROUND: Migraine without aura causes acute and chronic pain and partially compromises patients' social functioning and work performance. Over the past years, psychiatric comorbidities were frequently observed in these patients, together with coping difficulties and typical personality traits. The aim of this study was to identify whether migraine patients and controls share distinctive personality traits. METHODS: 105 consecutive patients suffering from migraine without aura referred to the Headache Center of Turin University were enrolled in the study and compared to a control group of 79 healthy subjects. Patients and controls completed several psychometric questionnaires, including the Temperament and Character Inventory, the Beck Depression Inventory and the State-Trait Anger Expression Inventory. RESULTS: Patients suffering from migraine show more depressive symptoms, difficult anger management with a tendency to hypercontrol, and a distinctive personality profile with high harm avoidance, high persistence and low self-directedness. When a logistic regression was performed, the only significant predictors of migraine were temperament variables. CONCLUSIONS: The results suggest that the personality traits and psychosomatic mechanisms of migraine patients may make them vulnerable to stress and less skilled in coping with pain. These traits correlate with dysregulated neurotransmitter systems which may also be part of the psychobiological components of personality, depressive disorders and migraine itself.

Adaptation, Psychological↗

PubMed2006

Endocrine function is altered in chronic migraine patients with medication-overuse.

OBJECTIVE: To evaluate the effects of analgesic overuse on endocrine function in patients with chronic migraine and medication-overuse headache (CM-MOH). BACKGROUND: Chronic migraine is frequently associated with an overuse of symptomatic medications. Drugs currently used in acute migraine attacks are associated with several endocrine effects. At present, the endocrine effects of medication overuse in chronic migraine patients are unknown. METHODS: Eighteen patients with CM-MOH, diagnosed according to the ICHD-II criteria, and 18 healthy controls received an intravenous administration of GHRH, hCRH, and TRH. Plasma concentrations of GH, TSH, ACTH, and cortisol were measured for a 90-minute period after administration of the specific releasing hormones. RESULTS: Hormonal basal concentrations were similar in both groups. GH response to GHRH was significantly reduced in patients with CM-MOH in comparison with controls. TRH induced a reduction of TSH concentrations only at the end of the test. After hCRH administration, ACTH and cortisol concentrations were significantly higher in cases than in controls. A significant correlation between duration of the disease and altered hormonal response was found. CONCLUSIONS: Our study shows that both corticotropic and somatotropic functions are significantly impaired in CM-MOH patients and suggests a role for hormones in the development of chronic migraine.

Adrenocorticotropic Hormone↗

PubMed2005

HLA-DRB1 genotyping in Italian migraine patients.

We examined the distribution of HLA-DRB1 alleles in a cohort 255 Italian migraine patients and in a control group of 325 healthy subjects. 214 patients fulfilled the ICHD-II criteria for migraine without aura and 41 patients the criteria for migraine with aura. The frequency of DRB1*16 allele was found to be significantly increased in migraine without aura patients (p=0.02; OR 1.97, 95% CI: 1.10-3.54) than in healthy controls. The frequencies of HLA-DRB1 alleles were not significantly different between migraine with aura patients and controls. We did not detect any effect of DRB1 alleles on age at onset, duration of the disease, frequency and duration of migraine attacks. Our data suggest the presence of a genetic susceptibility factor for migraine without aura within the HLA region.

Adult↗

PubMed2005

Anger and emotional distress in patients with migraine and tension-type headache.

The objective was to evaluate the prevalence and the characteristics of anger and emotional distress in migraine and tension- type headache patients. Two hundred and one headache patients attending the Headache Center of the University of Turin were selected for the study and divided into 5 groups: (1) migraine, (2) episodic tension-type headache, (3) chronic tension-type headache, (4) migraine associated with episodic tension-type headache and (5) migraine associated with chronic tension-type headache. A group of 45 healthy subjects served as controls. All the subjects completed the State-Trait Anger Expression Inventory, the Beck's Depression Inventory and the Cognitive Behavioral Assessment. Anger control was significantly lower in all headache patients (p<0.05) except in migraineurs. Patients with migraine and tension-type headache showed a significantly higher level of angry temperament and angry reaction (p<0.05). In addition, chronic tension-type headache and migraine associated with tension-type headache patients reported a higher level of anxiety (p<0.05), depression (p<0.001), phobias (p<0.001) and obsessive-compulsive symptoms (p<0.01), emotional liability (p<0.001) and psychophysiological disorders (p<0.001). Our study shows that chronic tension-type headache and migraine associated with tension-type headache patients present a significant impairment of anger control and suggests a connection between anger and the duration of headache experience.

Adult↗

PubMed2005

Resolution of cluster headache after closure of an anterior communicating artery aneurysm: the role of pericarotid sympathetic fibres.

We report the case of a patient suffering from migraine without aura since childhood who, at the age of 58 years, developed cluster headache (CH) attacks. This second type of headache was related to an aneurysm of the anterior communicating artery (ACoA) whose bursting caused subarachnoid haemorrhage. The aneurysm's clipping made the cluster headache subside and there was no recurrence for almost four years. However, nine months after haemorrhage, the patient experienced new migraine without aura attacks. As a pathogenetic interpretation of this secondary cluster headache, we discuss the possible role of pericarotid sympathetic nerves in cluster headache attacks. We suggest that the surgical dissection of the pericarotid sympathetic fibres could prevent the onset of the cluster headache attacks by cutting part of the circuit underlying it.

Adrenergic Fibers↗

PubMed2005

Association between migraine and HLA-DRB1 gene polymorphisms.

We examined the distribution of HLA-DRB1 alleles in a cohort of 255 Italian migraine patients and in a control group of 325 healthy subjects. The frequency of DRB1*12 allele was found to be significantly reduced (p=0.02) in patients with migraine while the DRB1*16 allele was significantly increased (p=0.04) in comparison with controls. When the patients were divided into disease subgroups (migraine with and without aura), HLA-DRB1**16 allele was significantly increased (p<0.05) only in migraine without aura patients. We conclude that, in Italian patients, migraine is associated with different alleles of the HLA-DRB1 locus. Our data suggest the presence of a genetic susceptibility factor for migraine within the HLA region.

Adult↗

PubMed2005

Genetics of cluster headache: an update.

Up to a few years ago, cluster headache (CH) was not thought to be an inherited disorder. However, several recent studies have suggested that genetic factors play a role in the disease. Genetic epidemiological surveys have shown that first-degree relatives of CH patients are more likely to have CH than the general population. CH has been reported in some concordant monozygotic twin pairs. At present, the type and the number of genes involved in the disease are still unclear. No mutation in the CACNA1A and NOS genes was found in CH patients. Recently, we have reported a significant association between the HCRTR2 gene and the disease. The purpose of this review is to describe recent advances in the genetics of CH.

Cluster Headache↗

PubMed2005

Attachment styles and headache.

The internal working model on attachment dimensions changes with significant emotional experiences. The purpose of this study was to evaluate if and how the internal working models correlate with primary headaches. Attachment dimensions of subjects suffering from primary headaches were studied. One hundred and fourteen subjects [68 with migraine, 23 with tension-type headache (according to ICHD-I criteria), 23 with chronic daily headache (according to Silberstein's criteria)], were studied and compared with a control group of 57 subjects (matched in sex, age and social level) not suffering from any primary headache. Attachment dimensions were investigated using the Adult Attachment Questionnaire (AAQ) and the Attachment Style Questionnaire (ASQ). Headache sufferers seem to be characterised by attachment styles of the "insecure" type. In particular they seem to feel extremely ill at ease if there is an expectation of reduction of interpersonal distance.

Adolescent↗

PubMed2005

Prevalence of HFE (hemochromatosis) gene mutations in patients with cluster headache.

OBJECTIVE: To evaluate whether polymorphisms of the HFE gene would modify the occurrence and the clinical features of cluster headache (CH). BACKGROUND: Recent studies suggested that iron metabolism may be involved in the pathophysiology of primary headaches. The HFE gene encodes for a protein that modulates iron absorption. Mutations in this gene are responsible for toxic iron overload in several body organs. METHODS: Genomic DNA was extracted from 109 CH patients and 211 age and sex-matched healthy controls and genotyped for the C282Y and H63D mutations of the HFE gene. Allele and genotype frequencies of the HFE gene were compared between cases and controls. The clinical characteristics of the disease were compared according to the different HFE gene genotypes. RESULTS: No C282Y mutation was found in both cases and controls. The prevalence of the H63D mutation was nearly identical in cases and controls. The four patients carrying the HFE D63D genotype showed a significantly (P < .001) later age at onset of the disease in comparison with both H63H and H63D patients. The remaining clinical characteristics of the disease did not significantly differ in the presence or absence of the H63D mutation. CONCLUSION: Our data do not support the hypothesis that genetic variations within the HFE gene are associated with CH. However, the HFE gene may influence the disease phenotype and may be regarded as a disease modifier gene.

Adult↗

PubMed2004

Migraine headache and mood disorders: a descriptive study in an outpatient psychiatric population.

BACKGROUND: Information is sparse concerning migraine distribution in mood disorder subjects based mainly on psychiatric disorder. METHODS: In a sample of 283 normothymic mood disorder outpatients on maintenance treatment with serotonin reuptake inhibitors (SSRIs) or lithium, we investigated migraine distribution and clinical variables possibly related to comorbidity risk between mood disorder and migraine. RESULTS: Some 26.8% of the sample met criteria for migraine with migraine age of onset earlier than mood disorder age of onset; familiarity for mood disorder and migraine was strictly related to comorbidity risk in probands. Long-term treatment with lithium salts subjectively improved migraine outcome. CONCLUSIONS: These results could support the bidirectional association between the two clinical forms, considering the familial and pharmacological patterns.

Adult↗

PubMed2003

Absence of linkage between the interleukin-6 gene (-174 G/C) polymorphism and migraine.

To assess the role of interleukin-6 (IL-6) in migraine, we analyzed the -174 G/C IL-6 gene polymorphism in 268 patients with migraine and 305 controls. No significant difference in the distribution of IL-6 genotypes (chi(2)=0.601, P=0.74) and allelic frequencies (chi(2)=0.024, P=0.876) was found. When patients were subdivided into subgroups (migraine with aura, migraine without aura and mixed headaches), IL-6 alleles were similarly distributed. Comparison of the clinical features of the disease with the -174 G/C IL-6 genotypes showed no significant difference. In conclusion, we found no significant association between the -174 G/C IL-6 polymorphism and the occurrence or the clinical features of migraine.

Adult↗

PubMed2002

Apolipoprotein E gene polymorphisms in patients with migraine.

To investigate the role of apolipoprotein E (APOE) polymorphisms in migraine, we analyzed the APOE genotypes of 241 migraine patients and 587 controls. The results of a Chi-square analysis indicated that APOE alleles were similarly distributed (chi(2)=2.89, P=0.24) between cases and controls. However, we found a significant (P<0.001) increase of the varepsilon2-varepsilon4 genotype in the group of migraine patients. Patients were divided into three subgroups: migraine with aura; migraine without aura; and mixed headaches (migraine associated with tension-type headache). Subgroup analysis showed that the varepsilon2-varepsilon4 genotype was significantly increased only in patients with mixed headaches. The stratification of patients by APOE status did not reveal significant associations with the clinical features of the disease. In conclusion, we observed no significant association between APOE polymorphisms and migraine. The association between the APOE varepsilon2-varepsilon4 genotype and the tension-type headache deserves further evaluation.

Adult↗

PubMed2002

A polymorphism in the interleukin-1alpha gene influences the clinical features of migraine.

OBJECTIVE: To evaluate whether a particular genotype of the interleukin-1alpha (IL1A) gene affects the clinical features of migraine. BACKGROUND: Proinflammatory mediators have been reported to play a role in the pathophysiology of migraine. Recent studies suggest that polymorphisms in the interleukin-1 genes influence the age at onset and subsequent course of several chronic inflammatory diseases. METHODS: In a group of 269 patients with migraine, we tested the association of the -889 C/T biallelic polymorphism of the IL1A gene with several clinical features of the disease. RESULTS: Patients with migraine carrying the T/T genotype show an age at onset of the disease that is significantly (P <.01) lower than IL1A C/C or C/T carriers. In addition, the same genotype was significantly (P <.05) more frequent in patients with migraine with aura than in patients with migraine without aura. CONCLUSIONS: The results of our study suggest a role for the IL1A gene in modifying the clinical features of migraine.

Adolescent↗

PubMedDate not supplied

A comparison of familial and sporadic migraine in a headache clinic population.

We compared the clinical, psychological and pharmacological characteristics of patients with familial migraine and patients with sporadic migraine. Five hundred and thirty consecutive new patients attending our Headache Center over a two-year period were involved in the study. The patients were divided into two groups: A. Familial migraine (famM)--at least one first-degree relative affected; B. Sporadic migraine (spoM)--no first-degree relative affected. Four hundred and twenty-four patients (80%) fulfilled the criteria for famM and 106 (20%) for spoM. The patients with famM showed a significantly (p<0.01) earlier age at onset of the disease. No significant difference in all the remaining features examined was found. Our data suggest that famM and spoM represent a single disease entity.

Adolescent↗