2,789 research outputs found
Dystonia
INTRODUCTION: Dystonia is a clinically heterogeneous group of hyperkinetic
movement disorders. Recent advances have provided a better understanding
of these conditions with significant clinical impact.
SOURCES OF DATA: Peer reviewed journals and reviews. PubMed.gov.
AREAS OF AGREEMENT: A recent consensus classification, including the assessment
of phenomenology and identification of the dystonia syndromes, has
provided a helpful tool for the clinical assessment. New forms of monogenic
dystonia have been recently identified.
AREAS OF CONTROVERSY: Despite recent advances in the understanding of dystonia,
treatment remains symptomatic in most patients.
GROWING POINTS: Recent advances in genetics have provided a better understanding
of the potential pathogenic mechanisms involved in dystonia.
Deep brain stimulation has shown to improve focal and combined forms of
dystonia and its indications are constantly expanding.
AREAS TIMELY FOR DEVELOPING RESEARCH: Growing understanding of the disease
mechanisms involved will allow the development of targeted and
disease-modifying therapies in the future
Association between Parkinson's disease and diabetes: Data from NEDICES study
Background:
Despite growing evidence showing an association between Parkinson's disease (PD) and diabetes, epidemiological studies have shown conflicting results.
Aims of the study:
To evaluate the association between PD and diabetes and the impact of diabetes duration in this association in an elderly (≥65 years) Spanish population.
Methods:
Data for this cross-sectional population-based analysis were obtained from NEDICES study. Subjects were identified from census list. Diagnosis of PD was confirmed by neurological examination. Diabetes was defined by self-report, being on antidiabetic medication or diagnosis on medical records. Logistic regression analysis adjusted by potential confounders was performed to estimate the association between both conditions and also after dividing patients into short-duration (<10 years) and long-duration (≥10 years) diabetes.
Results:
A total of 4998 subjects were included (79 PD and 4919 controls). Univariate analysis did not show any association between prevalence of PD and diabetes (OR 1.89, 95% CI 0.90-3.98, P=.09), although subgroup analysis showed a positive association in those with long-duration diabetes (3.27, 95% CI 1.21-8.85, P=.02).
Conclusions:
Diabetes duration might be an important factor in the association between PD and diabetes, and the risk might be limited to those with longer disease duration
A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease
Case Report High Grade Glioma Mimicking Voltage Gated Potassium Channel Complex Associated Antibody Limbic Encephalitis
Association of autonomic symptoms with disease progression and survival in progressive supranuclear palsy
BACKGROUND: Development of autonomic failure is associated with more rapid disease course and shorter survival in patients with Parkinson's disease and multiple system atrophy. However, autonomic symptoms have not been specifically assessed as a prognostic factor in progressive supranuclear palsy (PSP). We evaluated whether development of autonomic symptoms is associated with disease progression and survival in PSP. METHODS: A retrospective review of clinical data from consecutive patients with autopsy-confirmed PSP from the Queen Square Brain Bank between January 2012 and November 2016 was performed. Time from disease onset to four autonomic symptoms (constipation, urinary symptoms, erectile dysfunction and orthostatic hypotension) were noted. Time from diagnosis to five disease milestones and survival were calculated to assess disease progression, and their risk was estimated through a Cox proportional hazards model. RESULTS: A total of 103 PSP patients were included. Urinary symptoms and constipation were present in 81% and 71% of cases, respectively. Early development of constipation and urinary symptoms were associated with higher risk of reaching the first disease milestone (respectively, HR: 0.88; 95% CI 0.83 to 0.92; p<0.001; and HR: 0.80; 95% CI 0.75 to 0.86; p<0.001) and with a shorter survival in these patients (respectively, HR: 0.73; 95% CI 0.64 to 0.84; p<0.001; and HR: 0.88; 95% CI 0.80 to 0.96; p=0.004). On multivariate analysis, Richardson syndrome phenotype was the other variable independently associated with shorter survival. CONCLUSIONS: Earlier urinary symptoms and constipation are associated with a more rapid disease progression and reduced survival in patients with PSP
Elevated 4R-tau in astrocytes from asymptomatic carriers of the MAPT 10+16 intronic mutation
The microtubule-associated protein tau gene (MAPT) 10+16 intronic mutation causes frontotemporal lobar degeneration (FTLD) by increasing expression of four-repeat (4R)-tau isoforms. We investigated the potential role for astrocytes in the pathogenesis of FTLD by studying the expression of 4R-tau. We derived astrocytes and neurons from induced pluripotent stem cells from two asymptomatic 10+16 carriers which, compared to controls, showed persistently increased 4R:3R-tau transcript and protein ratios in both cell types. However, beyond 300 days culture, 10+16 neurons showed less marked increase of this 4R:3R-tau transcript ratio compared to astrocytes. Interestingly, throughout maturation, both 10+16 carriers consistently displayed different 4R:3R-tau transcript and protein ratios. These elevated levels of 4R-tau in astrocytes implicate glial cells in the pathogenic process and also suggests a cell-type-specific regulation and may inform and help on treatment of pre-clinical tauopathies
Antarctic ozone hole modifies iodine geochemistry on the Antarctic Plateau
Polar stratospheric ozone has decreased since the 1970s due to anthropogenic emissions of chlorofluorocarbons and halons, resulting in the formation of an ozone hole over Antarctica. The effects of the ozone hole and the associated increase in incoming UV radiation on terrestrial and marine ecosystems are well established; however, the impact on geochemical cycles of ice photoactive elements, such as iodine, remains mostly unexplored. Here, we present the first iodine record from the inner Antarctic Plateau (Dome C) that covers approximately the last 212 years (1800-2012 CE). Our results show that the iodine concentration in ice remained constant during the pre-ozone hole period (1800-1974 CE) but has declined twofold since the onset of the ozone hole era (~1975 CE), closely tracking the total ozone evolution over Antarctica. Based on ice core observations, laboratory measurements and chemistry-climate model simulations, we propose that the iodine decrease since ~1975 is caused by enhanced iodine re-emission from snowpack due to the ozone hole-driven increase in UV radiation reaching the Antarctic Plateau. These findings suggest the potential for ice core iodine records from the inner Antarctic Plateau to be as an archive for past stratospheric ozone trends.Fil: Spolaor, Andrea. Consiglio Nazionale Delle Ricerche. Istituto Di Scienze Polari.; Italia. Universita' Ca' Foscari Di Venezia; ItaliaFil: Burgay, François. Universita' Ca' Foscari Di Venezia; Italia. Paul Scherrer Institute; SuizaFil: Fernandez, Rafael Pedro. Consejo Nacional de Investigaciones CientĂficas y TĂ©cnicas. Centro CientĂfico TecnolĂłgico Conicet - Mendoza. Instituto Interdisciplinario de Ciencias Básicas. - Universidad Nacional de Cuyo. Instituto Interdisciplinario de Ciencias Básicas; ArgentinaFil: Turetta, Clara. Consiglio Nazionale Delle Ricerche. Istituto Di Scienze Polari.; Italia. Universita' Ca' Foscari Di Venezia; ItaliaFil: Cuevas, Carlos A.. Consejo Superior de Investigaciones CientĂficas. Instituto de QuĂmica FĂsica; EspañaFil: Kim, Kitae. Korea Polar Research Institute; Corea del SurFil: Kinnison, Douglas E.. National Center for Atmospheric Research; Estados UnidosFil: Lamarque, Jean-François. National Center for Atmospheric Research; Estados UnidosFil: de Blasi, Fabrizio. Consiglio Nazionale Delle Ricerche. Istituto Di Scienze Polari.; Italia. Universita' Ca' Foscari Di Venezia; ItaliaFil: Barbaro, Elena. Consiglio Nazionale Delle Ricerche. Istituto Di Scienze Polari.; Italia. Universita' Ca' Foscari Di Venezia; ItaliaFil: Corella, Juan Pablo. Consejo Superior de Investigaciones CientĂficas. Instituto de QuĂmica FĂsica; EspañaFil: Vallelonga, Paul. Universidad de Copenhagen; Dinamarca. University of Western Australia; AustraliaFil: Frezzotti, Massimo. UniversitĂ Roma Tre Iii. Dipartimento Di Scienze.; ItaliaFil: Barbante, Carlo. Consiglio Nazionale Delle Ricerche. Istituto Di Scienze Polari.; Italia. Universita' Ca' Foscari Di Venezia; ItaliaFil: Saiz LĂłpez, Alfonso. Consejo Superior de Investigaciones CientĂficas. Instituto de QuĂmica FĂsica; Españ
Concomitant fragile X-associated tremor ataxia syndrome and Parkinson's disease: a clinicopathological report of two cases.
The long-term outcome of impulsive compulsive behaviours in Parkinson's disease
Introduction: Impulsive compulsive behaviours (ICBs) such as dopamine dysregulation syndrome (DDS), pathological gambling, compulsive sexual behaviour, punding, compulsive shopping and binge eating are recognised complications of dopaminergic treatment that affect at least one in seven patients with Parkinson’s disease (PD). Only a few studies provide long-term data on ICBs although any firm conclusions are limited by restricted follow-up periods. We present long-term longitudinal data on 46 PD patients with ICBs with follow-up for a mean period of 8.2 years. / Methods: Patients with PD and ICBs who participated in previous research studies from 2007 to 2012 visit 1 (V1) were invited for re-assessment visit 2 (V2). Participants underwent a clinical interview and assessment with questionnaires and scales (detailed in online supplementary materials). The diagnosis of ICBs was based on screening questionnaires and confirmed with a structured interview. The study received ethics approval. Data was analysed in Statistical Package for Social Science 22 (SPSS 22). All variables were tested for normality and statistical tests chosen accordingly. A p value<0.05 was considered significant. Bonferroni correction was applied for comparison between visits and significance was considered to have been reached when p<0.025. / Results: Of the 90 original participants, 46 were included. Eight declined to participate, five were lost to follow-up and 31 had died (see online supplementary figure 1). No cases of suicide or traumatic fatality were reported. Participants were followed up for 8.2 years (±2.6). Three patients had a biallelic parkin mutation. See table 1 for demographic and clinical details at each visit and online supplementary table 1 for results of the scales/questionnaires used at V2
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