Growth arrest specific gene 6 protein concentration in cerebrospinal fluid correlates with relapse severity in multiple sclerosis.

Background: Growth arrest specific gene 6 (Gas6) protein enhances survival of oligodendrocytes and neurons, and it is involved in autoimmunity. Therefore, we aimed to verify whether cerebrospinal-fluid (CSF) Gas6 concentration may represent a biomarker of disease activity in multiple sclerosis.

Methods: Sixty-five patients who underwent a spinal tap during relapse of relapsing/remitting multiple sclerosis (RR-MS)(McDonald-criteria) were studied.

Association between DPP6 polymorphism and the risk of progressive multiple sclerosis in Northern and Southern Europeans.

Background: In this study, we investigated the role of the dipeptidyl-peptidase-6 (DPP6) gene in the etiopathogenesis of progressive forms of multiple sclerosis (PrMS). This gene emerged as a candidate gene in a genome-wide association study (GWAS) performed in an Italian sample of PrMS and controls in which two SNPs located in the gene (rs6956703 and rs11767658) showed evidence of association (nominal p-value<10(-4)) (Martinelli-Boneschi et al.) [18].

Predictors of attack severity and duration in multiple sclerosis: a prospective study.

Objective: To evaluate predictors of severity and duration of early Multiple Sclerosis (MS) attacks.

Methods: We analyzed 248 attacks in 95 patients in a prospective study. Severity: the difference between the EDSS score at the day of maximum worsening and the EDSS score before the onset of the attack.

The expression pattern of inflammatory mediators in cerebrospinal fluid differentiates Guillain-Barré syndrome from chronic inflammatory demyelinating polyneuropathy.

Introduction: Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP) share histopathological features but display different disease courses; we measured the concentration of 50 inflammatory mediators in the cerebrospinal fluid (CSF) of patients with either of these diseases.

Patients And Methods: CSF samples were collected during a diagnostic lumbar puncture and stored at -30 degrees C. We analyzed the CSF of nine subjects with GBS; eight with CIDP; eight with diabetic polyneuropathy (DP) and seven with headache (controls).

Progranulin gene variability increases the risk for primary progressive multiple sclerosis in males.

Progranulin (GRN) gene variability has been analyzed in a sample of 354 patients with multiple sclerosis (MS) compared with 343 controls. No significant differences were observed, but by stratifying according to MS subtypes, a significant increased frequency of the rs2879096 TT genotype was found in primary progressive MS (PPMS) patients versus controls (16.0 vs 3.

Lack of replication of KIF1B gene in an Italian primary progressive multiple sclerosis cohort.

Background: KIF1B gene represents the first non-inflammatory gene with a putative role on axonal loss and neurodegeneration found to be associated with multiple sclerosis (MS). The objective of this study is to test the association of the rs10492972 C allelic variant of KIF1B gene in a large Italian cohort of patients with primary progressive and progressive relapsing MS (PPMS and PRMS), which represents a subtype of MS mainly driven by neurodegenerative phenomena.

Methods: rs10492972 has been genotyped in an outbred sample of 222 primary PPMS and PRMS and 221 healthy controls of unique northern Italian origin using the TaqMan assay.

Interictal dysphoric disorder and periictal dysphoric symptoms in patients with epilepsy.

Purpose: The issue of phenomenology of mood disorders in epilepsy still remains controversial. It has been suggested that a subgroup of patients may develop an affective syndrome also known as interictal dysphoric disorder (IDD). However, the number of behavioral changes that may occur around the ictus needs to be taken into account for an accurate distinction between "true" psychiatric phenomenology and periictal phenomena.

Manic/hypomanic symptoms and quality of life measures in patients with epilepsy.

Purpose: Although several studies pointed out an association between depression and quality of life (QoL) of patients with epilepsy, data about manic/hypomanic symptoms (MHS) remain scanty. In this study, we sought to investigate their relationship with social and health-related QoL measures in patients with epilepsy.

Methods: Consecutive adult outpatients with epilepsy were assessed using the M.

Mutations in the lamin B1 gene are not present in multiple sclerosis.

Background: Whole gene duplication of the lamin B1 gene (LMNB1), encoding for a protein of the nuclear lamina, causes an adult-onset autosomal dominant leukodystrophy (ADLD). Clinical features of ADLD (onset in adult life, dysautonomic symptoms, followed by pyramidal and cerebellar dysfunctions) partially resemble those of multiple sclerosis (MS), particularly the primary-progressive form. Our aim was to test whether LMNB1 gene mutations were present amongst patients with a diagnosis of MS.

Clinical correlates of schizotypy in patients with epilepsy.

Clinical correlates of schizotypy were evaluated in 89 adult consecutive outpatients with epilepsy, using the Beck Depression Inventory, the State and Trait Anxiety Inventory, and the Schizotypal Personality Questionnaire (SPQ). Age at onset of the epilepsy significantly correlated with the constricted affect subscale of the SPQ, while a diagnosis of temporal lobe epilepsy correlated with the total SPQ score, the cognitive-perceptual factor of the SPQ, and the suspiciousness subscale of the SPQ. Schizotypal symptoms correlated with early onset of the seizures and a diagnosis of temporal lobe epilepsy, further confirming an association between psychoses and epilepsy.

Participation in medical decision-making: attitudes of Italians with multiple sclerosis.

Background: Patient involvement in decisions regarding their care has been advocated, but preferences have not been adequately canvassed, particularly in people with multiple sclerosis (MS).

Objectives: To cross-culturally adapt and validate the Italian version of the Control Preference Scale (CPS) subsequently used to assess preferences of people with MS.

Methods: Translation-adaptation into Italian of CPS from the original Canadian English followed by administration in 140 people with MS from five Italian centers (with re-administration in 35) and semi-structured interview.

Clinical correlates of pathological gambling symptoms in patients with epilepsy.

Pathological gambling symptoms (PGS), that is, the subjective urge to gamble and the actual gambling behaviors, are currently acknowledged as relatively common symptoms among Western countries, with an estimated point prevalence of 0.6-1.1% in the general population.

Measuring the level and content of consciousness during epileptic seizures: the Ictal Consciousness Inventory.

Ictal alterations of the level of general awareness and subjective content of consciousness play a pivotal role in the clinical phenomenology of epilepsy, and reflect the pathological involvement of different neurobiological substrates. However, no self-reported measures have been proposed for patients experiencing altered conscious states during seizures. This study describes the development and validation of a new scale for the quantitative assessment of the level and content of ictal consciousness, the Ictal Consciousness Inventory (ICI).

Elevation of Gas6 protein concentration in cerebrospinal fluid of patients with chronic inflammatory demyelinating polyneuropathy (CIDP).

Introduction: Gas6 enhances survival of Schwann cells and neurons in vitro and participates in autoimmunity in animal models. Since its concentration in human cerebrospinal fluid (CSF) is unknown, we measured it in samples from patients with non-inflammatory/non-autoimmune neurological diseases (NINAD) and autoimmune polyneuropathies.

Materials And Methods: Samples collected after informed consent during diagnostic lumbar puncture in the period 1999-2006 were stored at -30 degrees C.

Factors predicting incomplete recovery from relapses in multiple sclerosis: a prospective study.

Objective: To prospectively evaluate predictors of incomplete recovery after the first attacks in a cohort of patients with clinically isolated syndrome or relapsing-remitting multiple sclerosis.

Methods: Seventy-two consecutive patients recruited from January 2001 to December 2003, evaluated every six months or at any relapse up to 31 July 2005. Relapse intervals were calculated from the date of onset, nadir, onset of improvement and maximum improvement.

Clinical and psychopathological definition of the interictal dysphoric disorder of epilepsy.

Purpose: Different authors suggested the occurrence of a pleomorphic affective syndrome in patients with epilepsy named interictal dysphoric disorder (IDD). We sought to investigate whether IDD occurs only in patients with epilepsy and to validate IDD features against DSM-IV criteria.

Methods: Consecutive patients with a diagnosis of epilepsy (E) or migraine (M) have been assessed using the BDI, MDQ, and the Interictal Dysphoric Disorder Inventory (IDDI), a questionnaire specifically created to evaluate IDD symptoms.

The role of aura in psychopathology and dissociative experiences in epilepsy.

Cognitive auras seem to be associated with depression and anxiety, especially in patients with temporal lobe epilepsy (TLE). Dissociative symptoms may occur as an aura or in the context of psychiatric disorders such as depression, anxiety or schizophrenia. This is a cross-sectional study of 62 patients with TLE, using personality and dissociation measures to investigate their relationship with the presence of aura and its different subtypes.

Obsessionality, obsessive-compulsive disorder, and temporal lobe epilepsy.

We evaluated the prevalence of obsessive-compulsive disorder (OCD) in patients with temporal lobe epilepsy (TLE) and we investigated the hypothesis that obsessionality may represent a trait in TLE. Eighty-two consecutive patients with epilepsy, 62 with TLE and 20 with idiopathic generalized epilepsy (IGE), and 82 matched healthy controls were evaluated using the SCID-IP, Y-BOCS, MMPI-2 (specifically the Psychasthenia and Obsessiveness scales), BDI, and STAI Y1 and Y2. Nine of the TLE patients, none of the IGE patients, and one of the controls had a diagnosis of OCD.