المؤلفون: Xiao-Yan, Li, Yu-Feng, Bao, Juan-Juan, Xie, Shu-Xia, Qian, Bin, Gao, Miao, Xu, Yi, Dong, Jean-Marc, Burgunder, Zhi-Ying, Wu

المصدر: Journal of Huntington's Disease. 11:407-413

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Huntington Disease, East Asian People, Humans, Reproducibility of Results, Neurology (clinical), Neuropsychological Tests

الوصف: Background: The Unified Huntington’s Disease Rating Scale (UHDRS) is a universal scale assessing disease severity of Huntington’s disease (HD). However, the English version cannot be widely used in China, and the reliability and validity of the Chinese UHDRS have not yet been confirmed. Objective: To test the reliability and validity of Chinse UHDRS in patients with HD. Methods: Between August 2013 and August 2021, 159 HD patients, 40 premanifest HD, and 64 healthy controls were consecutively recruited from two medical centers in China and assessed by Chinese UHDRS. Internal consistency and interrater reliability of the scale were examined. Intercorrelation was performed to analyze the convergent and divergent validity of the scale. A receiver operating characteristic analysis was conducted to explore the optimal cutoff point of each cognitive test. Results: High internal consistency was found in Chinese UHDRS, and its Cronbach’s alpha values of the motor, cognitive, behavioral and functional subscales were 0.954, 0.826, 0.804, and 0.954, respectively. The interrater reliability of the total motor score was 0.960. The convergent and divergent validity revealed that motor, cognitive and functional subscales strongly related to each other except for Problem Behavior Assessment. Furthermore, we not only provided the normal level of each cognitive test in controls, but also gave the optimal cutoff points of cognitive tests between controls and HD patients. Conclusion: We demonstrate for the first time that the translated version of UHDRS is reliable for assessing HD patients in China. This can promote the universal use of UHDRS in clinical practice.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65aa5cb8c84c93c221bf0811317da859Test
https://doi.org/10.3233/jhd-220542Test

المؤلفون: Jean-Marc Burgunder

المصدر: Nature Reviews Neurology.

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ef0c24acb7c3697f403f34349d681950Test
https://doi.org/10.1038/s41582-023-00811-4Test

المؤلفون: Tiago A. Mestre, Cristina Sampaio, Wim Vandenberghe, Klaus Seppi, Erin Furr-Stimming, Anne Elizabeth Rosser, Melissa J. Nirenberg, Joaquim J. Ferreira, Anna Rita Bentivoglio, Filipe B. Rodrigues, Sarah J. Tabrizi, Gonçalo S Duarte, João Costa, Jan Roth, Jaime Kulisevsky, Francis O. Walker, Francisco Cardoso, Jean-Marc Burgunder, Jarosław Sławek, Anne-Catherine Bachoud-Lévi, Daniel O. Claassen, G Bernard Landwehrmeyer

المساهمون: Repositório da Universidade de Lisboa

المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: Occupational therapy, Evidence-based medicine, medicine.medical_specialty, health care facilities, manpower, and services, education, Tetrabenazine, Apathy, law.invention, Randomized controlled trial, Huntington's disease, Chorea, law, medicine, Humans, GRADE approach, health care economics and organizations, Dystonia, Movement Disorders, business.industry, medicine.disease, nervous system diseases, drug therapy, Settore MED/26 - NEUROLOGIA, Huntington Disease, Neurology, Deutetrabenazine, Physical therapy, Drug therapy, Neurology (clinical), medicine.symptom, evidence-based medicine, business

الوصف: © 2021 International Parkinson and Movement Disorder Society
Background: Huntington's disease (HD) is a rare neurodegenerative disorder with protean clinical manifestations. Its management is challenging, consisting mainly of off-label treatments. Objectives: The International Parkinson and Movement Disorder Society commissioned a task force to review and evaluate the evidence of available therapies for HD gene expansion carriers. Methods: We followed the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. Eligible randomized controlled trials were identified via an electronic search of the CENTRAL, MEDLINE, and EMBASE databases. All eligible trials that evaluated one or more of 33 predetermined clinical questions were included. Risk of bias was evaluated using the Cochrane Risk of Bias tool. A framework was adapted to allow for efficacy and safety conclusions to be drawn from the balance between the GRADE level of evidence and the importance of the benefit/harm of the intervention. Results: Twenty-two eligible studies involving 17 interventions were included, providing data to address 8 clinical questions. These data supported a likely effect of deutetrabenazine on motor impairment, chorea, and dystonia and of tetrabenazine on chorea. The data did not support a disease-modifying effect for premanifest and manifest HD. There was no eligible evidence to support the use of specific treatments for depression, psychosis, irritability, apathy, or suicidality. Similarly, no evidence was eligible to support the use of physiotherapy, occupational therapy, exercise, dietary, or surgical treatments. Conclusions: Data for therapeutic interventions in HD are limited and support only the use of VMAT2 inhibitors for specific motor symptoms.

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bafc11b9f83da3287793893b776185f5Test
https://doi.org/10.1002/mds.28855Test

المؤلفون: Marsha Pelletier, Jean-Marc Burgunder, Marco Pedrazzoli, Kopano Mukelabai, Louisa Townson, Marina Ponomareva, Anna-Lena Nordström, Ralf Reilmann, Mark Guttman, Aaron Levine

المصدر: Guttman, Mark; Pedrazzoli, Marco; Ponomareva, Marina; Pelletier, Marsha; Townson, Louisa; Mukelabai, Kopano; Levine, Aaron; Nordström, Anna-Lena; Reilmann, Ralf; Burgunder, Jean-Marc (2021). The Impact of Upcoming Treatments in Huntington's Disease: Resource Capacity Limitations and Access to Care Implications. Journal of Huntington's disease, 10(2), pp. 303-311. IOS Press 10.3233/JHD-200462 <http://dx.doi.org/10.3233/JHD-200462Test>
Journal of Huntington's Disease

مصطلحات موضوعية: Research Report, 0301 basic medicine, health care facilities, 610 Medicine & health, and services, Intrathecal, Spinal Puncture, Health Services Accessibility, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Resource (project management), Huntington's disease, Healthcare delivery, manpower, intrathecal injection, Health care, medicine, Humans, Health Workforce, Injections, Spinal, Health professionals, business.industry, capacity building, Capacity building, medicine.disease, health resources, Huntington Disease, 030104 developmental biology, Health Facilities, Neurology (clinical), Medical emergency, business, 030217 neurology & neurosurgery, Huntington’s disease, Healthcare system

الوصف: BACKGROUND The most advanced disease-modifying therapies (DMTs) in development for Huntington's disease (HD) require intrathecal (IT) administration, which may create or exacerbate bottlenecks in resource capacity. OBJECTIVE To understand the readiness of healthcare systems for intrathecally administered HD DMTs in terms of resource capacity dynamics and implications for patients' access to treatment. METHODS Forty HD centres across 12 countries were included. Qualitative and quantitative data on current capacity in HD centres and anticipated capacity needs following availability of a DMT were gathered via interviews with healthcare professionals (HCPs). Data modelling was used to estimate the current capacity gap in HD centres. RESULTS From interviews with 218 HCPs, 25% of HD centres are estimated to have the three components required for IT administration (proceduralists, nurses and facilities). On average, 114 patients per centre per year are anticipated to receive intrathecally administered DMTs in the future. At current capacity, six of the sampled centres are estimated to be able to deliver DMTs to all the anticipated patients based on current resources. The estimated waiting time for IT administration at current capacity will average 60 months (5 years) by the second year after DMT availability. CONCLUSION Additional resources are needed in HD centres for future DMTs to be accessible to all anticipated patients. Timely collaboration by the HD community will be needed to address capacity gaps. Healthcare policymakers and payers will need to address costs and navigate challenges arising from country- or region-specific healthcare delivery schemes.

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f11222ca8d9002ba30c2b786c16c27eTest
https://doi.org/10.3233/jhd-200462Test

المؤلفون: Marco Pedrazzoli, Marina Ponomareva, Mattia Moro, Louisa Townson, Kopano Mukelabai, Aaron Levine, Anna-Lena Nordström, Mark Guttman, Jean-Marc Burgunder, Ralf Reilmann

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 93:A80.2-A80

مصطلحات موضوعية: Psychiatry and Mental health, Surgery, Neurology (clinical)

الوصف: Whilst no disease-modifying-therapies (DMTs) are currently available for Huntington’s disease (HD), the investigational drugs most advanced in clinical development are administered intrathecally, requiring additional resources in HD clinics. We investigated the impact of upcoming DMTs for HD on healthcare systems and the implications of possible resource capacity gaps on access to care.The capacity to perform intrathecal drug administrations was assessed in 35 HD specialist centres from nine countries. Interviews with >170 healthcare professionals were performed and resources available in each HD centre were compared to the predicted amount of future resources that the estimated eligible patient population would need.Only 20% of participating HD teams currently have the required resources to perform intrathecal injec- tions: a skilled ‘proceduralist’, one or more nurses to assist in the procedure, and the appropriate space. When considering all resources available in the hospital, only 17% of HD-specialist clinics are estimated to have enough capacity to serve the eligible population. When simulating the additional referral-in of patients from non-HD-specialised clinics, only 6% of HD clinics have enough capacity.To ensure adequate care, capacity-constrained healthcare systems will need to plan adequately and ensure providers have sufficient training and resources to deliver new intrathecally administered DMTs.kopano.mukelabai@roche.com

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::728a1cf61f069feddbab0254010ef0edTest
https://doi.org/10.1136/jnnp-2022-abn.261Test

المؤلفون: Carsten Saft, M. Dose, Klaus Seppi, Josef Priller, Hans H. Jung, Jörg T. Epplen, G. Bernhard Landwehrmeyer, Jean-Marc Burgunder, Ralf Reilmann, Raphael M. Bonelli, Sabine Rudnik

المصدر: Aktuelle Neurologie 45(08), 570-585 (2018). doi:10.1055/a-0676-8477

مصطلحات موضوعية: Gynecology, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, Philosophy, medicine, Chorea, ddc:610, 030212 general & internal medicine, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

الوصف: ZusammenfassungDie neu überarbeiteten Leitlinien Chorea/Morbus Huntington geben auf S2k Niveau einen Überblick über den Stand der Forschung zum Erkrankungsverlauf sowie zu neuen Ansätzen der symptomatischen und verlaufsmodifizierenden Therapie bei der Huntington-Krankheit. Im Gegensatz zu vielen anderen Leitlinien bevorzugen die Autoren aus den deutschsprachigen Ländern als Erstlinienbehandlung der Chorea Tiaprid. Aufgrund von Nebenwirkungen, welche unter Tetrabenazin auftreten können – wie etwa Depression oder Akathisie, ist es gängige Praxis, Tetrabenazin erst in zweiter Linie einzusetzen. Die Leitlinien nehmen Stellung zu rechtlichen Fragen der Präimplantationsdiagnostik (PID) und der pränatalen Diagnostik (PD) in Deutschland, Österreich und der Schweiz sowie zu den Unterschieden zwischen dem prädiktiven und dem differenzialdiagnostischen Einsatz der molekulargenetischen Diagnostik. In den Leitlinien wird darüber hinaus sehr ausführlich zu den möglichen Differenzialdiagnosen bei einer Chorea ungeklärter Ätiologie Stellung genommen.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ba3f720222477ca576e983a59f1e7fdTest
https://doi.org/10.1055/a-0676-8477Test

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
Frontiers in Neurology, Vol 12 (2021)
You, Huajing; Wu, Tengteng; Du, Gang; Huang, Yue; Zeng, Yixuan; Lin, Lishan; Chen, Dingbang; Wu, Chao; Li, Xunhua; Burgunder, Jean-Marc; Pei, Zhong (2021). Evaluation of Blood Glial Fibrillary Acidic Protein as a Potential Marker in Huntington's Disease. Frontiers in neurology, 12, p. 779890. Frontiers Media S.A. 10.3389/fneur.2021.779890 <http://dx.doi.org/10.3389/fneur.2021.779890Test>

مصطلحات موضوعية: medicine.medical_specialty, Neurofilament light, 610 Medicine & health, Disease, Gastroenterology, Huntington's disease, Internal medicine, medicine, Clinical severity, RC346-429, Motor score, Original Research, Word reading, neurofilament light protein, Glial fibrillary acidic protein, biology, business.industry, medicine.disease, Neurology, nervous system, glial fibrillary acidic protein, clinical severity, biology.protein, Biomarker (medicine), biomarker, Neurology (clinical), Neurology. Diseases of the nervous system, business

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: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48b4432e699acac04c598c74cc483beaTest

المؤلفون: Noelle E. Carlozzi, Francis O. Walker, Glenn T. Stebbins, Filipe B. Rodrigues, Esther Cubo, Cristina Sampaio, Jean-Marc Burgunder, Pablo Martinez-Martin, Aileen K Ho, Monica Busse, Lori Quinn, Aileen M. Davis, Christopher G. Goetz, Tiago A. Mestre

المصدر: Movement Disorders Clinical Practice. 5:361-372

مصطلحات موضوعية: 030506 rehabilitation, medicine.medical_specialty, Activities of daily living, business.industry, Tinetti test, Test (assessment), Clinical trial, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Neurology, Rating scale, Berg Balance Scale, Medicine, Neurology (clinical), Functional ability, 0305 other medical science, business, 030217 neurology & neurosurgery, Balance (ability)

الوصف: Limitation of functional ability is a major feature of Huntington's disease (HD). The International Parkinson and Movement Disorder Society (MDS) commissioned the appraisal of the use and clinimetric properties of clinical measures of functional ability that have been applied in HD studies and trials to date, to make recommendations regarding their use based on standardized criteria. After a systematic literature search, we included a total of 29 clinical measures grouped into two categories: (1) performance-based measures (e.g., balance, walking, and reaching/grasping), and (2) rating scales. Three performance-based measures are rated as "recommended": the Tinetti Mobility Test for screening of fall risk and for severity assessment of mobility in patients with manifest HD (up to stage III); the Berg Balance Scale for severity of balance impairment; and the Six-Minute Walk Test for assessment of walking endurance (severity) in HD subjects with preserved ambulation. No rating scale targeting functional ability reached a "recommended" status either for screening or severity measurement. The main challenges identified in this review include applying widely accepted conceptual frameworks to the identified measures, the lack of validation of clinical measures to detect change over time, and absence of validated measures for upper limb function. Furthermore, measures of capacity or ability to perform activities of daily living had ceiling effects in people with early and pre-manifest HD. We recommend that the MDS prioritize the development of new scales that capture small, but meaningful changes in function over time for outcome assessment in clinical trials, particularly in earlier stages of HD.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9ed105990f63b8e539d1867d0065b74bTest
https://doi.org/10.1002/mdc3.12617Test

المؤلفون: Jean-Marc Burgunder, Raymund A.C. Roos, Johan Marinus, Ralf Reilmann, Jessica Y. Winder

المصدر: Movement Disorders Clinical Practice. 5:290-295

مصطلحات موضوعية: 0301 basic medicine, Dystonia, medicine.medical_specialty, business.industry, Intraclass correlation, Certification, medicine.disease, Trunk, 03 medical and health sciences, Inter-rater reliability, 030104 developmental biology, 0302 clinical medicine, Neurology, Huntington's disease, Rating scale, Physical therapy, Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Motor score

الوصف: Background The clinical assessment of motor symptoms in Huntington's disease is usually performed with the Unified Huntington's Disease Rating Scale-Total Motor Score (UHDRS-TMS). A high interrater reliability is desirable to monitor symptom progression. Therefore, a teaching video and a system for annual online certification has been developed and implemented. Objectives The aim of this study is to investigate the interrater reliability of the UHDRS-TMS and of its subitems, and to examine the performance of raters in consecutive years. Methods Data from the online UHDRS-TMS certification were used. The interrater reliability was assessed for all first-time participants (n = 944) between 2009 and 2016. Intraclass correlation coefficients (ICC) were calculated for each year separately and the mean was taken as the total ICC. Results The UHDRS-TMS (ICC = 0.847), tandem walking (0.824), pronate/supinate hands left (0.713), and retropulsion pull test (0.706) showed good interrater reliability. Poor interrater reliability was found for maximal dystonia of the left and right upper extremity (0.187 and 0.322, respectively), maximal dystonia of the left and right lower extremity (0.200 and 0.256, respectively), and maximal dystonia of the trunk (0.389), tongue protrusion (0.266), and rigidity arms left (0.390). Raters performed significantly worse on follow-up certification compared to their first certification. Conclusions Our results suggest that the rating of dystonia (absent, slight, mild, moderate, or marked) is subjective and difficult to interpret, especially on video. Therefore, changing the dystonia items of the UHDRS-TMS should be explored. We also recommend that raters should watch the UHDRS-TMS teaching video before each certification.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a03b7019334f0ff000ce4c4d51bfb432Test
https://doi.org/10.1002/mdc3.12618Test

المؤلفون: Tiago A. Mestre, Esther Cubo, Glenn T. Stebbins, Aileen M. Davis, Noelle E. Carlozzi, Pablo Martinez-Martin, Lori Quinn, Christopher G. Goetz, Aileen K Ho, Monica Busse, Jean-Marc Burgunder, Francis O. Walker, Cristina Sampaio, Filipe B. Rodrigues

المصدر: Movement Disorders. 33:742-749

مصطلحات موضوعية: Health related quality of life, Gerontology, business.industry, Patient-centered outcomes, Disease, medicine.disease, World health, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Neurology, Huntington's disease, Rating scale, medicine, In patient, 030212 general & internal medicine, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصف: The compromise of quality of life in Huntington's disease is a major issue, both for individuals with the disease as well as for their caregivers. The International Parkinson and Movement Disorder Society commissioned a review of the use and clinimetric validation status of measures used in Huntington's disease to assess aspects related with quality of life and to make recommendations on their use following standardized criteria. We included both patient‐centered measures (patient health‐related quality‐of‐life measures) and caregiver‐centered measures (caregiver quality‐of‐life measures). After conducting a systematic literature search, we included 12 measures of patient health‐related quality of life and 2 measures of caregiver quality of life. Regarding patient‐centered measures, the Medical Outcomes Study 36‐Item Short‐Form Health Survey is “recommended” as a generic assessment of health‐related quality of life in patients with Huntington's disease. The 12‐Item Short Form Health Survey, the Sickness Impact Profile, the 12‐item World Health Organization Disability Assessment Schedule, and the Huntington's Disease Health‐Related Quality of Life questionnaire are “suggested.” No caregiver‐centered quality‐of‐life measure obtained a “recommended” status. The Alzheimer's Carer's Quality of Life Inventory and the Huntington's Disease Quality of Life Battery for Carers are “suggested.” Recognizing that the assessment of patient health‐related quality of life can be challenging in Huntington's disease, as patients may lack insight and there is insufficient clinimetric testing of these scales, the committee concluded that further validation of currently available health‐related quality‐of‐life measures should be undertaken, namely, those Huntington's disease–specific health‐related quality‐of‐life measures that have recently been reported and used.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b571f48fea93c200a197772d594ad76eTest
https://doi.org/10.1002/mds.27317Test