Jimenez E.,University of Barcelona |
Arias B.,University of Barcelona |
Mitjans M.,University of Barcelona |
Goikolea J.M.,University of Barcelona |
And 8 more authors.
Bipolar patients (BP) are at high risk of suicide. Causal factors underlying suicidal behavior are still unclear. However, it has been shown that lithium has antisuicidal properties. Genes involved in its putative mechanism of action such as the phosphoinositol and the Wnt/β-catenine pathways could be considered candidates for suicidal behavior (SB). Our aim was to investigate the association of the IMPA1 and 2, INPP1, GSK3α and β genes with suicidal behavior in BP.199 BP were recruited. Polymorphisms at the IMPA1 (rs915, rs1058401 and rs2268432) and IMPA2 (rs66938, rs1020294, rs1250171 and rs630110), INPP1 (rs3791809, rs4853694 and 909270), GSK3α (rs3745233) and GSK3β (rs334558, rs1732170 and rs11921360) genes were genotyped. All patients were grouped and compared according to the presence or not of history of SB (defined as the presence of at least one previous suicidal attempt). Single SNP analyses showed that suicide attempters had higher frequencies of AA genotype of the rs669838-IMPA2 and GG genotype of the rs4853694-INPP1gene compared to non-attempters. Results also revealed that T-allele carriers of the rs1732170-GSK3β gene and A-allele carriers of the rs11921360-GSK3β gene had a higher risk for attempting suicide. Haplotype analysis showed that attempters had lower frequencies of A:A haplotype (rs4853694:rs909270) at the INPP1 gene. Higher frequencies of the C:A haplotype and lower frequencies of the A:C haplotype at the GSK-3β gene (rs1732170:rs11921360) were also found to be associated to SB in BP.Therefore, our results suggest that genetic variability at IMPA2, INPP1 and GSK3β genes is associated with the emergence of SB in BP. © 2013 Elsevier B.V. and ECNP. Source
Bronte-Stewart H.,Stanford University |
Taira T.,Tokyo Womens Medical University |
Valldeoriola F.,Institute Clinic Of Neurociencies |
Merello M.,FLENI |
And 4 more authors.
When considering a patient with dystonia for deep brain stimulation (DBS) surgery several factors need to be considered. Level B evidence has shown that all motor features and associated pain in primary generalized and segmental dystonia are potentially responsive to globus pallidus internus (GPi) DBS. However, improvements in clinical series of ≥90% may reflect methods that need improvement, and larger prospective studies are needed to address these factors. Nevertheless, to date the selection criteria for DBS-specifically in terms of patient features (severity and nature of symptoms, age, time of evolution, or any other demographic or disease aspects)-have not been assessed in a systematic fashion. In general, dystonia patients are not considered for DBS unless medical therapies have been previously and extensively tested. The vast majority of reported patients have had DBS surgery when the disease was provoking important disability, with loss of independence and impaired quality of life. There does not appear to be an upper age limit or a minimum age limit, although there are no published data regarding the outcome of GPi DBS for dystonia in children younger than 7 years of age. There is currently no enough evidence to prove that subjects with primary-generalized dystonia who undergo DBS at an early age and sooner rather than later after disease onset may gain more benefit from DBS than those undergoing DBS after the development of fixed skeletal deformities. There is no enough evidence to refuse or support consideration of DBS in patients with previous ablative procedures. © 2011 Movement Disorder Society. Source
Vieta E.,Institute Clinic Of Neurociencies |
Morralla C.,Sanofi S.A.
Journal of Affective Disorders
Objectives: Mixed episodes are a combination of depressive and manic symptoms in bipolar disorder (BD). We want to identify the proportion of patients who have depressive symptoms during an acute episode and also the validity of current methods for its diagnosis. Material and method: Cross-sectional multicentre study of patients with type I BD who are admitted to specialized units. 368 patients in 76 centres were included. The patients should have a well established diagnosis of BD and need hospitalisation. The severity of the disorder and clinical status were evaluated upon admission and discharge using CGI-BP-M clinical impression scales, the Hamilton depression scale (HAMD-17) and the Young mania rating scale (YMRS). Upon admission, the necessary criteria for diagnosing a mixed type episode were recorded according to DSM-IV-TR, ICD-10 and McElroy criteria. Clinical judgment of the current type of episode was also recorded. Results: Prevalence estimations for mixed episodes were: 12.9% according to DSM-IV-TR (n = 45), 9% according to ICD-10 (n = 31), 16.7% according to McElroy criteria (n = 58), and 23.2% according to clinical judgment (n = 81). Statistically significant differences were found between the estimated prevalence rates (Cochrane's Q-test, p < 0.0001), with the maximum concordance level found between the McElroy and ICD-10 (Kappa = 0.66, 95% CI, 0.54-0.77). The DSM-IV-TR criteria only present moderate concordance with ICD-10 (Kappa = 0.65, 95% CI, 0.52 to 0.78) and McElroy criteria (Kappa = 0.62, 95% CI, 0.50 to 0.74). Conclusions: The definition of mixed episodes for BD must be revised to improve consensus and, consequently, therapeutic management. Current diagnostic systems, based on DSM-IV and IDC-10, only capture a limited proportion of patients suffering from mixed episodes, giving rise to important limitations concerning the therapeutic management of BP patients. © 2010 Elsevier B.V. All rights reserved. Source
Hidalgo Mazzei D.,Institute Clinic Of Neurociencies |
Martin Rodriguez S.,Hospital Universitari Germans Trias i Pujol |
Perez Molto H.,Hospital Universitari Germans Trias i Pujol |
Ruiz Izquierdo J.,Hospital de LEsperit Sant de Santa Coloma de Gramenent |
Baeza I.,Institute Clinic Of Neurociencies
European Child and Adolescent Psychiatry
Homocystinuria due to cystathionine β-synthase deficiency is an inborn error of metabolism first described almost 50 years ago, which involves the accumulation of plasma homocysteine and other metabolites. Without early detection and appropriate treatment, common and sometimes lethal consequences include ocular abnormalities, osteoporosis, developmental delays, marfanoid phenotype, vascular disease, and mental retardation. Almost 50 % of subjects develop a psychiatric disorder during their life, but only 2.8 % present a psychiatric symptom as the initial manifestation. Among this group, psychotic disorders are infrequent. We describe the case of a 17-year-old boy presenting with a first episode psychosis and an unknown homocystinuria due to cystathionine β-synthase deficiency, which led to a lethal outcome. © 2013 Springer-Verlag Berlin Heidelberg. Source
Gelpi E.,Clinic Institute dInvestigacions Biomediques August Pi i Sunyer IDIBAPS |
Navarro-Otano J.,Clinic Institute dInvestigacions Biomediques August Pi i Sunyer IDIBAPS |
Navarro-Otano J.,Institute Clinic Of Neurociencies |
Navarro-Otano J.,Research Center Biomedica en Red sobre Enfermedades Neurodegenerativas |
And 11 more authors.
Lewy body (LB) diseases are characterized by alpha-synuclein (AS) aggregates in the central nervous system (CNS). Involvement of the peripheral autonomic nervous system (pANS) is increasingly recognized, although less studied. The aim of this study was to systematically analyze the distribution and severity of AS pathology in the CNS and pANS. Detailed postmortem histopathological study of brain and peripheral tissues from 28 brain bank donors (10 with Parkinson's disease [PD], 5 with dementia with LB [DLB], and 13 with non-LB diseases including atypical parkinsonism and non-LB dementia). AS aggregates were found in the pANS of all 15 LB disease cases (PD, DLB) in stellate and sympathetic ganglia (100%), vagus nerve (86.7%), gastrointestinal tract (86.7%), adrenal gland and/or surrounding fat (53.3%), heart (100%), and genitourinary tract (13.3%), as well as in 1 case of incidental Lewy body disease (iLBD). A craniocaudal gradient of AS burden in sympathetic chain and gastrointestinal tract was observed. DLB cases showed higher amounts of CNS AS aggregates than PD cases, but this was not the case in the pANS. No pANS AS aggregates were detected in Alzheimer's disease (AD) cases with or without CNS AS aggregates. All pathologically confirmed LB disease cases including 1 case of iLBD had AS aggregates in the pANS with a craniocaudal gradient of pathology burden in sympathetic chain and gastrointestinal tract. AS was not detected in the pANS of any AD case. These findings may help in the search of peripheral AS aggregates in vivo for the early diagnosis of PD. © 2014 International Parkinson and Movement Disorder Society. Source