Basal ganglia最新文献

{"title":"Motor fluctuations and levodopa-induced peak dose dyskinesias in parkinsonism due to spinocerebellar ataxia type 3","authors":"Aaron de Souza ,&nbsp;Rainha J. de Souza","doi":"10.1016/j.baga.2018.12.001","DOIUrl":"https://doi.org/10.1016/j.baga.2018.12.001","url":null,"abstract":"<div><p>Spinocerebellar ataxia (SCA) type 3 is often reported as a cause of familial parkinsonism, and may present as a relatively “pure” parkinsonian phenotype, indistinguishable in its clinical features and responsiveness to levodopa from idiopathic Parkinson’s disease (PD). In contrast to PD, levodopa induced dyskinesias and motor fluctuations are not common in atypical parkinsonian syndromes. We report a patient who presented with the ataxic phenotype of SCA3, and then developed progressively worsening levodopa-responsive parkinsonism over nine years’ follow up. High dose levodopa therapy led to the onset of peak-dose choreiform dyskinesias and wearing-off of levodopa effect, findings not previously associated with the ataxic phenotype of SCA3. The pathogenesis of parkinsonism in SCA3 and the possible mechanisms leading to peak-dose dyskinesias are discussed. Genetic testing for SCA may be performed more liberally in patients with otherwise “typical” PD, particularly in the face of a positive family history.</p></div>","PeriodicalId":89327,"journal":{"name":"Basal ganglia","volume":"14 ","pages":"Pages 54-57"},"PeriodicalIF":0.0,"publicationDate":"2018-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.baga.2018.12.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136706070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Altered thalamic glucose metabolism in cerebellar projections in Parkinson’s disease","authors":"Esther Pelzer ,&nbsp;Younis Nahhas ,&nbsp;Marc Tittgemeyer ,&nbsp;Lars Timmermann ,&nbsp;Carsten Eggers","doi":"10.1016/j.baga.2018.07.001","DOIUrl":"10.1016/j.baga.2018.07.001","url":null,"abstract":"<div><p>A pathological communication between the basal ganglia (BG) and the cerebellum (Cb) at the level of the thalamus has been proposed to be causative for the generation of parkinsonian tremor. Recent studies, however, indicated, that altered Cb-thalamic circuitry is not only underlying the genesis of tremor, but is involved in the generation of other parkinsonian symptoms like bradykinesia and rigor.</p><p>Hence, we studied the glucose metabolism of akinetic-rigid parkinsonian patients in (i) anatomical (anterior, medial, lateral, posterior) and (ii) projection territory-based (Cb- and BG-thalamic) subdivision of the human thalamus and compared them with healthy controls in order to predict disease progression irrespective of the symptom tremor. The dentate nucleus was representatively chosen as output station for Cb regions, BG regions comprised the pallidum.</p><p>Regarding (i) the anatomical subdivision we found no significant difference between patients and controls in the glucose metabolism for the anterior and medial group (p &gt; 0.05), but an increase of glucose metabolism for the lateral and posterior group (p &lt; 0.05). The glucose metabolism under (ii) the tractography-based subdivision revealed significant differences between patients and controls in the left (p &lt; 0.05) and right (p &lt; 0.01) Cb-thalamic, but not the BG-thalamic projection territory (p &gt; 0.05). In order to test for disease specific alterations, we correlated bihemispherically averaged thalamic glucose metabolism for the anterior, medial, lateral and posterior thalamic group with disease progress (reflected by the Hoehn &amp; Yahr score) and found a significant prediction of the glucose metabolism of the lateral thalamic group and the disease progression (p &lt; 0.05; r = 0.4). A further subdivision into patients with right and left symptom onset evoked a group of 14 right- and 13 left affected patients. Again, we correlated clinical parameters of disease progression with the results of glucose metabolism and found a significant correlation of the right affected patients (p &lt; 0.05) with the right Cb-thalamic region reflected by an up-regulation of glucose metabolism; right affected patients frequently show slower disease progression than left affected patients.</p><p>Hence our results support a critical (maybe compensatory) role of the Cb-thalamic projections and forces a more straightforward thinking away from a pure “symptom-oriented” to a “dynamic-circuitry” approach due to functional changes in glucose metabolism with Cb and BG as one of the circuitry key elements defining the clinical parkinsonian phenotype.</p></div>","PeriodicalId":89327,"journal":{"name":"Basal ganglia","volume":"14 ","pages":"Pages 1-7"},"PeriodicalIF":0.0,"publicationDate":"2018-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.baga.2018.07.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44803556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term ambulatory assessment of motor symptoms in movement disorders: a best-evidence review","authors":"G. Kramer ,&nbsp;N.M. Maurits ,&nbsp;J.G.M. Rosmalen ,&nbsp;M.A.J. Tijssen","doi":"10.1016/j.baga.2018.07.002","DOIUrl":"10.1016/j.baga.2018.07.002","url":null,"abstract":"<div><h3>Introduction</h3><p>Aassessing movement disorders in daily life can provide information that might not be available during a short clinical visit. This review provides an overview of the currently available ambulatory registration methods to assess motor symptoms.</p></div><div><h3>Methods</h3><p>A systematic review was performed of ambulatory registration methods, registering motor symptoms for at least 24 h. The following characteristics were studied: study goal, study population, data acquisition, outcome measures, and data interpretation.</p></div><div><h3>Results</h3><p>For the classical subjective approach, a patient-kept diary, two types are widely applied: the ON/OFF diary to assess the medication response status in patients with Parkinson’s Disease (PD), and the fall diary to assess fall frequency. Both diaries are established methods for clinical decision-making. However, both diaries have disadvantages, especially since self-report might not always agree with clinicians’ ratings. An often-used alternative objective approach that employs accelerometry can assess activity levels and gait, monitor disease progression and distinguish between healthy controls and patients. However, accelerometry cannot reliably assess medication status in PD nor distinguish between different diseases. Also due to the heterogeneity in body locations for the accelerometer and outcome measures, there are no gold standards to rely on. Accelerometry to assess tremor can be used to obtain clinically valid measures. The combination of objective and subjective measurements is, at this point, mainly useful for scientific research.</p></div><div><h3>Conclusion</h3><p>Subjective measurements of ON/OFF status and fall frequency remain the most widely adopted long-term registration methods. Most other methods first need more validation in a clinical setting before they can be applied in patient care.</p></div>","PeriodicalId":89327,"journal":{"name":"Basal ganglia","volume":"14 ","pages":"Pages 8-21"},"PeriodicalIF":0.0,"publicationDate":"2018-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.baga.2018.07.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45093547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A systematic review of decision-making impairments in Parkinson’s Disease: Dopaminergic medication and methodological variability","authors":"Sophie Wohlert Kjær ,&nbsp;Malene Flensborg Damholdt ,&nbsp;Mette Buhl Callesen","doi":"10.1016/j.baga.2018.07.003","DOIUrl":"10.1016/j.baga.2018.07.003","url":null,"abstract":"<div><p>Cognitive impairments in Parkinson’s disease have been studied with great interest, and decision-making abilities in particular have received attention over the past decade. The degree of decision-making impairments in Parkinson’s disease has been debated in relation to different types of decision-making tasks and the possible effect of dopaminergic medication, among others. The present review presents a systematic overview of literature investigating decision-making in patients with Parkinson’s Disease treated with dopaminergic medication. The aim of the review is to discuss decision-making impairments displayed by patients considering effects of dopaminergic medication. Patients with Parkinson’s Disease on dopaminergic medication were found to be impaired in decision making tasks. Dopaminergic medication has a complex, but often significant, relationship with decision making impairments. Finally, the influence of methodological differences in the assessment of decision-making will be considered offering important implications for future research.</p></div>","PeriodicalId":89327,"journal":{"name":"Basal ganglia","volume":"14 ","pages":"Pages 31-40"},"PeriodicalIF":0.0,"publicationDate":"2018-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.baga.2018.07.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49049420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel missense mitochondrial DNA 4079A>G variation in familial early-onset Parkinson’s disease","authors":"Sasan Andalib ,&nbsp;Tahereh Mousavi ,&nbsp;Ebrahim Sakhinia ,&nbsp;Bahman Jabbari","doi":"10.1016/j.baga.2018.10.001","DOIUrl":"10.1016/j.baga.2018.10.001","url":null,"abstract":"<div><h3>Background</h3><p>Familial Parkinson's Disease (familial PD) and Early-Onset Parkinson's Disease (EOPD) are both uncommon disorders. Genetic analyses of familial EOPD have been limited due to its rarity. Here, we report four members of a family with familial EOPD carrying a novel mtDNA variation.</p></div><div><h3>Case report</h3><p>Four members of a family presenting with bradykinesia, muscular rigidity and resting tremor were diagnosed as having familial EOPD. The patients’ peripheral blood was analyzed for the presence of three previously known mtDNA variations in PD, viz m.4216T&gt;C, m.4917A&gt;G, and m.15928G&gt;A using PCR-RFLP; none of these variants were identified in the four patients. However, we found a novel mtDNA m.4079A&gt;G variation in ND1 (NADH dehydrogenase 1) gene in all the tested four family members.</p></div><div><h3>Discussion</h3><p>The m.4079A&gt;G is a missense variation giving rise to a Tyr-Cys aminoacid substitution in ND1 protein (ND1:p.Tyr258Cys). This may lead to a defective protein influencing oxidative phosphorylation. Therefore, wider analyses of mRNA expression, protein transcription, and functional neuroimaging of brain energy metabolism are required in EOPD patients.</p></div>","PeriodicalId":89327,"journal":{"name":"Basal ganglia","volume":"14 ","pages":"Pages 41-43"},"PeriodicalIF":0.0,"publicationDate":"2018-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.baga.2018.10.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45592767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Maximizing benefits of the levodopa/carbidopa intestinal gel: Systematic considerations, challenging convention and individualizing approaches","authors":"Nirosen Vijiaratnam ,&nbsp;Carolyn M. Sue","doi":"10.1016/j.baga.2018.12.002","DOIUrl":"10.1016/j.baga.2018.12.002","url":null,"abstract":"<div><p>The levodopa/carbidopa intestinal gel (LCIG) is an efficacious treatment for Parkinson disease. The initiation and management of the LCIG requires a streamlined approach that takes into account patient heterogeneity. In this article we outline an over arching approach to this while highlighting steps that could be potentially modified in each individual, with the ultimate goal of achieving ideal clinical outcomes.</p></div>","PeriodicalId":89327,"journal":{"name":"Basal ganglia","volume":"14 ","pages":"Pages 58-60"},"PeriodicalIF":0.0,"publicationDate":"2018-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.baga.2018.12.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42945269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Are the subthalamic nucleus, internal globus pallidus and thalamus involved in thinking?","authors":"Eduard Minks ,&nbsp;Pavel Jurák ,&nbsp;Jan Chládek ,&nbsp;Alexandra Minksová ,&nbsp;Zuzana Hummelová ,&nbsp;Josef Halámek ,&nbsp;Jan Chrastina ,&nbsp;Petra Ovesná ,&nbsp;Martin Bareš","doi":"10.1016/j.baga.2018.07.004","DOIUrl":"10.1016/j.baga.2018.07.004","url":null,"abstract":"<div><h3>Introduction</h3><p>The aim was to compare event-related potentials and event-related de/synchronisations between the P300 and mismatch negativity paradigms, both recorded in the subcortical structures and thus illustrate conscious cognition process in these structures. The second aim was to uncover if the mismatch negativity can be found in subcortical structures.</p></div><div><h3>Methods</h3><p>We included patients with Parkinson's disease, generalised dystonia, essential tremor and epilepsy in the deep brain stimulation program. The electrodes were implanted into the subthalamic nucleus, internal globus pallidus, then in the anterior and ventral intermediate nucleus of the thalamus bilaterally. We were interested in local oscillations.</p></div><div><h3>Results</h3><p>We found a significant P300 - mismatch negativity difference at 250–400 ms latency in the basal ganglia and thalamus in event-related potentials in 7 out of 8 patients. There was also a significant difference in event-related de/synchronisations at 500–1500 ms latency in 7 out of 8 patients in the beta band and desynchronisation in the subthalamic nucleus plus the internal globus pallidus and synchronisation in the anterior thalamic nucleus. When the mismatch negativity protocol was processed we found a significant outcome in event-related potentials (100–250 ms latency) in the internal globus pallidus and the ventral intermediate nucleus of the thalamus in 4 out of 6 patients.</p></div><div><h3>Conclusion</h3><p>The results suggest that the subthalamic nucleus, internal globus pallidus and maybe also the thalamus are involved firstly in the subconscious cognitive process 100–250 ms after the stimuli, then in the conscious cognitive processes at the level of the afferent information processing network at 250–400 ms and finally they affect conscious cognitive activity at a time of large brain neuronal network 500–1500 ms after stimuli.</p></div>","PeriodicalId":89327,"journal":{"name":"Basal ganglia","volume":"14 ","pages":"Pages 22-30"},"PeriodicalIF":0.0,"publicationDate":"2018-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.baga.2018.07.004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47889998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autism, impulsivity and inhibition a review of the literature","authors":"Pavlína Hlavatá ,&nbsp;Tomáš Kašpárek ,&nbsp;Pavla Linhartová ,&nbsp;Hana Ošlejšková ,&nbsp;Martin Bareš","doi":"10.1016/j.baga.2018.10.002","DOIUrl":"10.1016/j.baga.2018.10.002","url":null,"abstract":"<div><p>Patients with autism have difficulties with social interaction and communication and often exhibit repetitive and stereotyped behaviours. Many patients also exhibit impulsive forms of behaviour with negative impact on their quality of life. Although there have been many studies assessing behavioural inhibition in order to find the underlying mechanism of these disruptive forms of behaviour, the existence of inhibitory deficits in autism is still a subject of discussion. Discrepancies in results are due to the heterogeneity of tasks designs and research samples. Little is known about inhibition of socially relevant stimuli in autism because prior studies were mostly focused on inhibition in non-social context. Research of inhibitory control in social-relevant context is important, because patients with autism have problems mainly in social situations. In this review we will focus on studies of response inhibition, interference control and their neural correlates in patients with autism and discuss the possible sources of inconsistencies in the results. We include studies of behavioural inhibition in autism which were written in English and published between 1990 and 2017. Literature was searched by PubMed and Web of Science.</p></div>","PeriodicalId":89327,"journal":{"name":"Basal ganglia","volume":"14 ","pages":"Pages 44-53"},"PeriodicalIF":0.0,"publicationDate":"2018-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.baga.2018.10.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47137792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Filgrastim (G-CSF) ameliorates Parkinsonism l-dopa therapy’s drawbacks in mice","authors":"Rasha El-Esawy ,&nbsp;Mohamed Balaha ,&nbsp;Samah Kandeel ,&nbsp;Sabeha Hadya ,&nbsp;Mohamed-Nabih Abd El-Rahman","doi":"10.1016/j.baga.2018.06.001","DOIUrl":"10.1016/j.baga.2018.06.001","url":null,"abstract":"<div><p><span>l</span>-dopa is still the cornerstone symptomatic medication for Parkinson disease (PD), although it cannot stop the neurodegenerative process progression or even aggravate it. Filgrastim (G-CSF) is a hematopoietic growth factor, exhibited neurotrophic, antioxidant, anti-apoptotic, immunomodulating and neuroprotective potentialities. The present study assessed the possible modulating potentialities of filgrastim on <span>l</span>-dopa treatment’s drawbacks in a mouse model of PD. Male BALB/c mice received 30 mg/kg/day rotenone suspended in 0.25 ml 0.5% CMC in PBS for 28 days orally from day 1st until the day 28th of the experiment for induction of PD. Since day 29th till day 43rd, mice treated with either 10 mg/kg/day <span>l</span>-dopa and 2.5 mg/kg/day carbidopa suspended in 0.25 ml 0.5% CMC in PBS orally, 50 μg/kg/day filgrastim in 0.1 ml 5% dextrose SC or a combination of both. Filgrastim, in the present study, able to alleviate the <span>l</span>-dopa therapy’s drawbacks in PD that revealed by the restoration of the exhausted nigrostriatal GSH level, and the reduction of the elevated nigrostriatal MDA, NO and TNF-α levels that deteriorated by <span>l</span>-dopa therapy. Moreover, the co-therapy of filgrastim with <span>l</span>-dopa, considerably potentiated the deteriorated mice’s working memory, and abrogated the nigrostriatal histopathological changes and caspase-3 immunohistochemical expression, failed to improve by <span>l</span>-dopa therapy. Furthermore, the filgrastim co-therapy with <span>l</span>-dopa demonstrated a remarkable improvement in the nigrostriatal dopamine level, and repression of rotenone-induced descent latency prolongation, as well as, stride length reduction than each alone. Therefore, filgrastim is promising, as a disease-modifying therapy, in amelioration of <span>l</span>-dopa therapy’s drawbacks in PD.</p></div>","PeriodicalId":89327,"journal":{"name":"Basal ganglia","volume":"13 ","pages":"Pages 17-26"},"PeriodicalIF":0.0,"publicationDate":"2018-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.baga.2018.06.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41933221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment of oromandibular dystonia using botulinum toxin injections – Case series and illustrative muscle targeting","authors":"Genevieve Lynn Tan Yu ,&nbsp;Raymond L. Rosales","doi":"10.1016/j.baga.2018.05.002","DOIUrl":"10.1016/j.baga.2018.05.002","url":null,"abstract":"<div><p>Oromandibular dystonia (OMD) is a severely disabling disorder with limited available therapies. Current oral medications for OMD are ineffective and may pose further risks of aspiration particularly in combination states of jaw and tongue dystonia. We advocate the use of Botulinum neurotoxin (BoNT) injection with proper muscle site selection and dosing as the most effective treatment in OMD clinically. Targeting muscle for injection should involve not only an astute clinical examination and understanding the patient’s history, but perhaps also guided by instrumentation. Based on our previous and present case series, we present specific localization techniques for BoNT in OMD patients subsequent to methodical patient selection, proper BoNT reconstitution and conversion. We believe adequate knowledge and appropriate technique will give our patients greatest benefit and will minimize risk of adverse events following treatment.</p></div>","PeriodicalId":89327,"journal":{"name":"Basal ganglia","volume":"13 ","pages":"Pages 7-16"},"PeriodicalIF":0.0,"publicationDate":"2018-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.baga.2018.05.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46618311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}