المؤلفون: Carsten Saft, Jean-Marc Burgunder, Matthias Dose, Hans Heinrich Jung, Regina Katzenschlager, Josef Priller, Huu Phuc Nguyen, Kathrin Reetz, Ralf Reilmann, Klaus Seppi, Georg Bernhard Landwehrmeyer

المصدر: Neurological Research and Practice, Vol 5, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

الوصف: Abstract Introduction Choreiform movement disorders are characterized by involuntary, rapid, irregular, and unpredictable movements of the limbs, face, neck, and trunk. These movements often initially go unnoticed by the affected individuals and may blend together with seemingly intended, random motions. Choreiform movements can occur both at rest and during voluntary movements. They typically increase in intensity with stress and physical activity and essentially cease during deep sleep stages. In particularly in advanced stages of Huntington disease (HD), choreiform hyperkinesia occurs alongside with dystonic postures of the limbs or trunk before they typically decrease in intensity. Summary or definition of the topic The differential diagnosis of HD can be complex. Here, the authors aim to provide guidance for the diagnostic process. This guidance was prepared for the German Neurological Society (DGN) for German-speaking countries. Recommendations Hereditary (inherited) and non-hereditary (non-inherited) forms of chorea can be distinguished. Therefore, the family history is crucial. However, even in conditions with autosomal-dominant transmission such as HD, unremarkable family histories do not necessarily rule out a hereditary form (e.g., in cases of early deceased or unknown parents, uncertainties in familial relationships, as well as in offspring of parents with CAG repeats in the expandable range (27–35 CAG repeats) which may display expansions into the pathogenic range). Conclusions The differential diagnosis of chorea can be challenging. This guidance prepared for the German Neurological Society (DGN) reflects the state of the art as of 2023.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2524-3489Test

الوصول الحر: https://doaj.org/article/d590a3c651f34c46a0ea9583802bc1bdTest

المؤلفون: Carsten Saft, Jean-Marc Burgunder, Matthias Dose, Hans Heinrich Jung, Regina Katzenschlager, Josef Priller, Huu Phuc Nguyen, Kathrin Reetz, Ralf Reilmann, Klaus Seppi, Georg Bernhard Landwehrmeyer

المصدر: Neurological Research and Practice, Vol 5, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

الوصف: Abstract Introduction Ameliorating symptoms and signs of Huntington’s disease (HD) is essential to care but can be challenging and hard to achieve. The pharmacological treatment of motor signs (e.g. chorea) may favorably or unfavorably impact other facets of the disease phenotype (such as mood and cognition). Similarly, pharmacotherapy for behavioral issues may modify the motor phenotype. Sometimes synergistic effects can be achieved. In patients undergoing pragmatic polypharmacological therapy, emerging complaints may stem from the employed medications' side effects, a possibility that needs to be considered. It is recommended to clearly and precisely delineate the targeted signs and symptoms (e.g., chorea, myoclonus, bradykinesia, Parkinsonism, or dystonia). Evidence from randomized controlled trials (RCTs) is limited. Summary or definition of the topic Therefore, the guidelines prepared for the German Neurological Society (DGN) for German-speaking countries intentionally extend beyond evidence from RCTs and aim to synthesize evidence from RCTs and recommendations of experienced clinicians. Recommendations First-line treatment for chorea is critically discussed, and a preference in prescription practice for using tiapride instead of tetrabenazine is noted. In severe chorea, combining two antidopaminergic drugs with a postsynaptic (e.g., tiapride) and presynaptic mode of action (e.g., tetrabenazine) is discussed as a potentially helpful strategy. Sedative side effects of both classes of compounds can be used to improve sleep if the highest dosage of the day is given at night. Risperidone, in some cases, may ameliorate irritability but also chorea and sleep disorders. Olanzapine can be helpful in the treatment of weight loss and chorea, and quetiapine as a mood stabilizer with an antidepressant effect. Conclusions Since most HD patients simultaneously suffer from distinct motor signs and distinct psychiatric/behavioral symptoms, treatment should be individually adapted.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2524-3489Test

الوصول الحر: https://doaj.org/article/82e711d767b446e48816d7f63ace04bbTest

المؤلفون: Jie-Qiang Xia, Yang-Fan Cheng, Si-Rui Zhang, Yuan-Zheng Ma, Jia-Jia Fu, Tian-Mi Yang, Ling-Yu Zhang, Jean-Marc Burgunder, Hui-Fang Shang

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: Huntington’s disease, peripheral inflammatory, progression, prognosis, biomarkers, Neurology. Diseases of the nervous system, RC346-429

الوصف: ObjectivesThis study aims to elucidate the role of peripheral inflammation in Huntington’s disease (HD) by examining the correlation of peripheral inflammatory markers with clinical manifestations and disease prognosis.MethodsThis investigation involved 92 HD patients and 92 matched healthy controls (HCs). We quantified various peripheral inflammatory markers and calculated their derived metrics including neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), lymphocyte-to-monocyte ratio (LMR), and systemic immune-inflammation index (SII). Clinical assessments spanning cognitive, motor, and disease severity were administered. Comparative analysis of inflammatory markers and clinical correlations between HD and controls was performed. Kaplan–Meier survival analysis and Cox regression model were used to assess the effect of inflammatory markers on survival.ResultsThe study revealed that HD patients had significantly reduced lymphocyte counts, and LMR. Conversely, NLR, PLR, and SII were elevated compared to HCs. Lymphocyte levels inversely correlated with the age of onset and monocyte levels inversely correlated with the UHDRS-total functional capacity (TFC) scores. After adjusting for age, sex, and CAG repeat length, lymphocyte count, NLR, PLR, and SII were significantly correlated with the progression rate of TFC scores. Elevated levels of white blood cells and monocytes were associated with an increased risk of disability and mortality in the HD cohort.ConclusionOur findings indicate that HD patients display a distinct peripheral inflammatory profile with increased NLR, PLR, and SII levels compared to HCs. The peripheral inflammation appears to be linked with accelerated disease progression and decreased survival in HD.

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1374365/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/75f6c4a4378c4a82a87ac5f8589a8901Test

المؤلفون: Yang‐Fan Cheng, Kun‐Cheng Liu, Tian‐Mi Yang, Yi Xiao, Qi‐Rui Jiang, Jing‐Xuan Huang, Sirui Zhang, Qian‐Qian Wei, Ru‐Wei Ou, Chun‐Yu Li, Xiao‐Jing Gu, Jean‐Marc Burgunder, Hui‐Fang Shang

المصدر: Brain and Behavior, Vol 13, Iss 11, Pp n/a-n/a (2023)

مصطلحات موضوعية: Chinese population, cognitive function, Huntington's disease, influencing factors, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

الوصف: Abstract Background and aim Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disorder caused by CAG repeats expansion. Cognitive decline contributes to the loss of daily activity in manifest HD. We aimed to examine the cognition status in a Chinese HD cohort and explore factors influencing the diverse cognitive domains. Methods A total of 205 participants were recruited in the study with the assessment by neuropsychological batteries, including the mini–mental state examination (MMSE), Stroop test, symbol digit modalities test (SDMT), trail making test (TMT), verbal fluency test (VFT), and Hopkins verbal learning test–revised, as well as motor and psychiatric assessment. Pearson correlation and multiple linear regression models were applied to investigate the correlation. Results Only 41.46% of patients had normal global function first come to our center. There was a significantly difference in MMSE, Stroop test, SDMT, TMT, and VFT across each stage of HD patients (p

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2162-3279Test

الوصول الحر: https://doaj.org/article/8b1ab19aa9d9438da3df0e48b49ceb15Test

المؤلفون: Quang Tuan Rémy Nguyen, Juan Dario Ortigoza Escobar, Jean-Marc Burgunder, Caterina Mariotti, Carsten Saft, Lena Elisabeth Hjermind, Katia Youssov, G. Bernhard Landwehrmeyer, Anne-Catherine Bachoud-Lévi

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: Huntington's disease, chorea, phenocopy, diagnosis, differential diagnosis, guidelines, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.891800/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/842b211e24b54b5584c216ade7a2699eTest

المؤلفون: Quang Tuan Rémy Nguyen, Juan Dario Ortigoza Escobar, Jean-Marc Burgunder, Caterina Mariotti, Carsten Saft, Lena Elisabeth Hjermind, Katia Youssov, G. Bernhard Landwehrmeyer, Anne-Catherine Bachoud-Lévi

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: Huntington's disease, chorea, phenocopy, diagnosis, differential diagnosis, guidelines, Neurology. Diseases of the nervous system, RC346-429

الوصف: One percent of patients with a Huntington's disease (HD) phenotype do not have the Huntington (HTT) gene mutation. These are known as HD phenocopies. Their diagnosis is still a challenge. Our objective is to provide a diagnostic approach to HD phenocopies based on medical expertise and a review of the literature. We employed two complementary approaches sequentially: a review of the literature and two surveys analyzing the daily clinical practice of physicians who are experts in movement disorders. The review of the literature was conducted from 1993 to 2020, by extracting articles about chorea or HD-like disorders from the database Pubmed, yielding 51 articles, and analyzing 20 articles in depth to establish the surveys. Twenty-eight physicians responded to the first survey exploring the red flags suggestive of specific disease entities. Thirty-three physicians completed the second survey which asked for the classification of paraclinical tests according to their diagnostic significance. The analysis of the results of the second survey used four different clustering algorithms and the density-based clustering algorithm DBSCAN to classify the paraclinical tests into 1st, 2nd, and 3rd-line recommendations. In addition, we included suggestions from members of the European Reference Network-Rare Neurological Diseases (ERN-RND Chorea & Huntington disease group). Finally, we propose guidance that integrate the detection of clinical red flags with a classification of paraclinical testing options to improve the diagnosis of HD phenocopies.

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.817753/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/3011f0d891484295bcee2021ed3f5e98Test

المؤلفون: Yangfan Cheng, Xiaojing Gu, Kuncheng Liu, Tianmi Yang, Yi Xiao, Qirui Jiang, Jingxuan Huang, Junyu Lin, Qianqian Wei, Ruwei Ou, Yanbing Hou, Lingyu Zhang, Chunyu Li, Jean-Marc Burgunder, Huifang Shang

المصدر: Journal of Clinical Medicine, Vol 12, Iss 1, p 206 (2022)

مصطلحات موضوعية: Huntington’s disease, Chinese population, motor assessment, neuropsychiatric symptoms, Medicine

الوصف: Huntington’s disease (HD) is an autosomal dominant inherited neurodegenerative disorder caused by CAG repeats expansion. There is a paucity of comprehensive clinical analysis in Chinese HD patients due to the low prevalence of HD in Asia. We aimed to comprehensively describe the motor, neuropsychiatric symptoms, and functional assessment in patients with HD from China. A total of 205 HD patients were assessed by the Unified Huntington’s Disease Rating Scale (UHDRS), the short version of Problem-Behavior Assessment (PBA-s), Hamilton Depression Scale (HAMD) and Beck Depression Inventory (BDI). Multivariate logistic regression analysis was used to explore the independent variables correlated with neuropsychiatric subscales. The mean age of motor symptom onset was 41.8 ± 10.0 years old with a diagnostic delay of 4.3 ± 3.8 years and a median CAG repeats of 44. The patients with a positive family history had a younger onset and larger CAG expansion than the patients without a family history (p < 0.05). There was a significant increase in total motor score across disease stages (p < 0.0001). Depression (51%) was the most common neuropsychiatric symptom at all stages, whereas moderate to severe apathy commonly occurred in advanced HD stages. We found lower functional capacity and higher HAMD were independently correlated with irritability; higher HAMD and higher BDI were independently correlated with affect; male sex and higher HAMD were independently correlated with apathy. In summary, comprehensive clinical profile analysis of Chinese HD patients showed not only chorea-like movement, but psychiatric symptoms were outstanding problems and need to be detected early. Our study provides the basis to guide clinical practice, especially in practical diagnostic and management processes.

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/12/1/206Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/4a6c5e9cd479456e89d01d125b271d3aTest

المؤلفون: Huajing You, Tengteng Wu, Gang Du, Yue Huang, Yixuan Zeng, Lishan Lin, Dingbang Chen, Chao Wu, Xunhua Li, Jean-marc Burgunder, Zhong Pei

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: Huntington's disease, glial fibrillary acidic protein, neurofilament light protein, clinical severity, biomarker, Neurology. Diseases of the nervous system, RC346-429

الوصف: Objective: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. Neurofilament light protein (NfL) is correlated with clinical severity of HD but relative data are the lack in the Chinese population. Reactive astrocytes are related to HD pathology, which predicts their potential to be a biomarker in HD progression. Our aim was to discuss the role of blood glial fibrillary acidic protein (GFAP) to evaluate clinical severity in patients with HD.Methods: Fifty-seven HD mutation carriers (15 premanifest HD, preHD, and 42 manifest HD) and 26 healthy controls were recruited. Demographic data and clinical severity assessed with the internationally Unified Huntington's Disease Rating Scale (UHDRS) were retrospectively analyzed. Plasma NfL and GFAP were quantified with an ultra-sensitive single-molecule (Simoa, Norcross, GA, USA) technology. We explored their consistency and their correlation with clinical severity.Results: Compared with healthy controls, plasma NfL (p < 0.0001) and GFAP (p < 0.001) were increased in Chinese HD mutation carriers, and they were linearly correlated with each other (r = 0.612, p < 0.001). They were also significantly correlated with disease burden, Total Motor Score (TMS) and Total Functional Capacity (TFC). The scores of Stroop word reading, symbol digit modalities tests, and short version of the Problem Behaviors Assessments (PBAs) for HD were correlated with plasma NfL but not GFAP. Compared with healthy controls, plasma NfL has been increased since stage 1 but plasma GFAP began to increase statistically in stage 2.Conclusions: Plasma GFAP was correlated with plasma NfL, disease burden, TMS, and TFC in HD mutation carriers. Plasma GFAP may have potential to be a sensitive biomarker for evaluating HD progression.

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.779890/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/7597e9b8b9594d0e9cd79cb62e077540Test

المؤلفون: Tobias Nef, Alvin Chesham, Narayan Schütz, Angela Amira Botros, Tim Vanbellingen, Jean-Marc Burgunder, Julia Müllner, René Martin Müri, Prabitha Urwyler

المصدر: Frontiers in Aging Neuroscience, Vol 12 (2020)

مصطلحات موضوعية: cognitive assessment, maze task, puzzle video games, aging, neurodegenerative diseases, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

الوصف: There is currently a need for engaging, user-friendly, and repeatable tasks for assessment of cognitive and motor function in aging and neurodegenerative diseases. This study evaluated the feasibility of a maze-like Numberlink puzzle game in assessing differences in game-based measures of cognition and motor function due to age and neurodegenerative diseases. Fifty-five participants, including young (18–31 years, n = 18), older (64–79 years, n = 14), and oldest adults (86–98 years, n = 14), and patients with Parkinson’s (59–76 years, n = 4) and Huntington’s disease (HD; 35–66 years, n = 5) played different difficulty levels of the Numberlink puzzle game and completed usability questionnaires and tests for psychomotor, attentional, visuospatial, and constructional and executive function. Analyses of Numberlink game-based cognitive (solving time and errors) and motor [mean velocity and movement direction changes (MDC)] performance metrics revealed statistically significant differences between age groups and between patients with HD and older adults. However, patients with Parkinson’s disease (PD) did not differ from older adults. Correlational analyses showed significant associations between game-based performance and movement metrics and performance on neuropsychological tests for psychomotor, attentional, visuospatial, and constructional and executive function. Furthermore, varying characteristics of the Numberlink puzzle game succeeded in creating graded difficulty levels. Findings from this study support recent suggestions that data from a maze-like puzzle game provide potential “digital biomarkers” to assess changes in psychomotor, visuoconstructional, and executive function related to aging and neurodegeneration. In particular, game-based movement measures from the maze-like puzzle Numberlink games are promising as a tool to monitor the progression of motor impairment in neurodegenerative diseases. Further studies are needed to more comprehensively establish the cognitive validity and test–retest reliability of using Numberlink puzzles as a valid cognitive assessment tool.

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fnagi.2020.00087/fullTest; https://doaj.org/toc/1663-4365Test

الوصول الحر: https://doaj.org/article/5f9eb4fbbc5b459cbe41e6f3db0532b3Test

المؤلفون: Stefanie Kübel, Katharina Stegmayer, Tim Vanbellingen, Manuela Pastore-Wapp, Manuel Bertschi, Jean-Marc Burgunder, Eugenio Abela, Bruno Weder, Sebastian Walther, Stephan Bohlhalter

المصدر: NeuroImage: Clinical, Vol 16, Iss , Pp 88-97 (2017)

مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429

الوصف: Parkinson's disease (PD) patients frequently suffer from dexterous deficits impeding activities of daily living. There is controversy whether impaired fine motor skill may stem from limb kinetic apraxia (LKA) rather than bradykinesia. Based on classical models of limb praxis LKA is thought to result when premotor transmission of time-space information of skilled movements to primary motor representations is interrupted. Therefore, using functional magnetic resonance imaging (fMRI) we tested the hypothesis that dexterous deficits in PD are associated with altered activity and connectivity in left parieto-premotor praxis network. Whole-brain analysis of fMRI activity during a task for LKA (coin rotation) showed increased activation of superior and inferior parietal lobule (SPL, IPL) and ventral premotor cortex (vPM) in PD patients compared to controls. For bradykinesia (assessed by finger tapping) a decreased fMRI activity could be detected in patients. Additionally, psychophysical interaction analysis showed increased functional connectivity between IPL and the posterior hippocampi in patients with PD. By contrast, functional connectivity to the right dorsolateral prefrontal cortex was decreased in patients with PD compared to controls.In conclusion, our data demonstrates that dexterous deficits in PD were associated with enhanced fMRI activation of the left praxis network upstream to primary motor areas, mirroring a neural correlate for the behavioral dissociation of LKA and bradykinesia. Furthermore, the findings suggest that patients recruit temporal areas of motor memory as an attempt to compensate for impaired motor skills. Finally, dysexecutive function may contribute to the deficit. Keywords: Coin rotation, Dexterity, Executive control, Functional connectivity, Hippocampus

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2213158217301730Test; https://doaj.org/toc/2213-1582Test

الوصول الحر: https://doaj.org/article/a6733f837df747a8bf127e65d9d22a3cTest