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2. Age-related differences in postural adjustments during limb movement and motor imagery in young and older adults

Author

Wider, C, Mitra, S, Andrews, M, and Boulton, H

Subjects
Adult, Male, Aging, medicine.medical_specialty, Neurology, Motor Activity, Motion (physics), Anticipation, Young Adult, Motor imagery, Physical medicine and rehabilitation, Age groups, Age related, medicine, Humans, Postural Balance, Anticipatory, Aged, Posture control, Movement (music), General Neuroscience, Anticipation, Psychological, Hand, Head Movements, Imagination, Female, Older people, Psychology, Psychomotor Performance, Research Article
Abstract

Recent research has shown that systematic postural adjustments occur during periods of manual motor imagery (MI), but the timing (anticipatory or reactive) and directionality (against or in the direction of arm extension) of these postural motions relative to individual manual actions or imagery are not well understood. This study analyzed the anteroposterior hip and head motion of healthy young and older participants, while they imagined bilateral arm raises under self-initiated or environmentally triggered performance conditions. When MI was self-initiated, both age groups showed significant forward postural motion during the second prior to MI initiation. When MI (or physical arm movement) was environmentally triggered, however, older people did not show anticipatory forward postural motion, but did show compensatory backward head motion. These results suggest that manual MI is indeed accompanied by anticipatory postural motion, but this anticipation is attenuated in older people when they do not have control over the timing of manual movement onset.

Published
2020

4. Collaborateurs

Author

Albrecht, E., primary, Baeriswyl, M., additional, Bernath, M.-A., additional, Blanc, C., additional, Buchser, E., additional, Buclin, T., additional, Calderari, B., additional, Calvi, L., additional, Cavin, F., additional, Chassot, P.-G., additional, Chollet-Rivier, M., additional, Courbon, C., additional, Coronado, M., additional, Decosterd, I., additional, Denys, A., additional, Dolci, M., additional, Fitting, J.-W., additional, Freymond, D., additional, Gardaz, J.-P., additional, Gilliard, N., additional, Haberer, J.-P., additional, Heim, C., additional, Jolles-Haeberli, B., additional, Kern, C., additional, Langenberger, T., additional, Lyon, X., additional, Martins-Favre, M., additional, Moret, V., additional, Mondragon, P., additional, Mustaki, J.-P., additional, Perruchoud, C., additional, Portmann, L., additional, Prior, J., additional, Revelly, J.-P., additional, Rutschmann, B., additional, Samama, C.-M., additional, Schoettker, P., additional, Seemater, G., additional, Suter, M., additional, Teta, D., additional, Thierrin, L., additional, Villet, S., additional, Wider, C., additional, and Zanetti, G., additional

Published
2015
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12. Calbindin-1 association and Parkinsonʼs disease

Author

Soto-Ortolaza, A. I., Behrouz, B., Wider, C., Vilariño-Güell, C., Heckman, M. G., Aasly, J. O., Gibson, J. Mark, Lynch, T., Jasinska-Myga, B., Krygowska-Wajs, A., Opala, G., Barcikowska, M., Czyzewski, K., Uitti, R. J., Wszolek, Z. K., Farrer, M. J., and Ross, O. A.

Published
2010
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15. Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: An international consensus statement

Author

Puschmann, A., Brighina, L., Markopoulou, K., Aasly, J., Chung, S.J., Frigerio, R., Hadjigeorgiou, G., Kõks, S., Krüger, R., Siuda, J., Wider, C., Zesiewicz, T.A., Maraganore, D.M., Puschmann, A., Brighina, L., Markopoulou, K., Aasly, J., Chung, S.J., Frigerio, R., Hadjigeorgiou, G., Kõks, S., Krüger, R., Siuda, J., Wider, C., Zesiewicz, T.A., and Maraganore, D.M.

Abstract

Parkinson disease (PD) is associated with a clinical course of variable duration, severity, and a combination of motor and non-motor features. Recent PD research has focused primarily on etiology rather than clinical progression and long-term outcomes. For the PD patient, caregivers, and clinicians, information on expected clinical progression and long-term outcomes is of great importance. Today, it remains largely unknown what factors influence long-term clinical progression and outcomes in PD; recent data indicate that the factors that increase the risk to develop PD differ, at least partly, from those that accelerate clinical progression and lead to worse outcomes. Prospective studies will be required to identify factors that influence progression and outcome. We suggest that data for such studies is collected during routine office visits in order to guarantee high external validity of such research. We report here the results of a consensus meeting of international movement disorder experts from the Genetic Epidemiology of Parkinson's Disease (GEO-PD) consortium, who convened to define which long-term outcomes are of interest to patients, caregivers and clinicians, and what is presently known about environmental or genetic factors influencing clinical progression or long-term outcomes in PD. We propose a panel of rating scales that collects a significant amount of phenotypic information, can be performed in the routine office visit and allows international standardization. Research into the progression and long-term outcomes of PD aims at providing individual prognostic information early, adapting treatment choices, and taking specific measures to provide care optimized to the individual patient's needs.

Published
2015

16. Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: An international consensus statement

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], Puschmann, A., Brighina, L., Markopoulou, K., Aasly, J., Chung, S. J., Frigerio, R., Hadjigeorgiou, G., Koks, S., Krüger, Rejko, Siuda, J., Wider, C., Zesiewicz, T. A., Maraganore, D. M., Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], Puschmann, A., Brighina, L., Markopoulou, K., Aasly, J., Chung, S. J., Frigerio, R., Hadjigeorgiou, G., Koks, S., Krüger, Rejko, Siuda, J., Wider, C., Zesiewicz, T. A., and Maraganore, D. M.

Abstract

Parkinson disease (PD) is associated with a clinical course of variable duration, severity, and a combination of motor and non-motor features. Recent PD research has focused primarily on etiology rather than clinical progression and long-term outcomes. For the PD patient, caregivers, and clinicians, information on expected clinical progression and long-term outcomes is of great importance. Today, it remains largely unknown what factors influence long-term clinical progression and outcomes in PD; recent data indicate that the factors that increase the risk to develop PD differ, at least partly, from those that accelerate clinical progression and lead to worse outcomes. Prospective studies will be required to identify factors that influence progression and outcome. We suggest that data for such studies is collected during routine office visits in order to guarantee high external validity of such research. We report here the results of a consensus meeting of international movement disorder experts from the Genetic Epidemiology of Parkinson's Disease (GEO-PD) consortium, who convened to define which long-term outcomes are of interest to patients, caregivers and clinicians, and what is presently known about environmental or genetic factors influencing clinical progression or long-term outcomes in PD. We propose a panel of rating scales that collects a significant amount of phenotypic information, can be performed in the routine office visit and allows international standardization. Research into the progression and long-term outcomes of PD aims at providing individual prognostic information early, adapting treatment choices, and taking specific measures to provide care optimized to the individual patient's needs.

Published
2015

17. Placebo effect characteristics observed in a single, international, longitudinal study in Huntington's disease

Author

Cubo, E, González, M, del Puerto, I, de Yébenes, Jg, Arconada, Of, Gabriel Galán, Jm, Ehdi, Sg, Zangerl, A, Seppi, K, Wenning, G, Poewe, W, Foeldy, D, Auff, E, Schober, T, Wenzel, K, Ott, E, Walli, J, Leblhuber, F, Dürr, A, Bloch, F, Messouak, O, Tallaksen, C, Dubois, B, Guillamo, Js, Bachoud Lévi, Ac, Engles, A, Krystkowiak, P, Destée, A, Memin, A, Thibaut Tanchou, S, Pasquier, F, Azulay, Jp, Demonet, Jf, Galitzky, M, Rascol, O, Mollion, H, Broussolle, E, Madigand, M, Lallement, F, Goizet, C, Tison, F, Arguillère, S, Viallet, F, Bakchine, S, Khoris, J, Pages, M, Camu, W, Resch, F, Hannequin, D, Durif, F, Saudeau, D, Autret, A, Andrich, J, Saft, C, Kraus, Ph, Przuntek, H, Ecker, D, Kramer, B, Landwehrmeyer, Gb, Ludolph, Ac, Priller, J, Meierkord, H, Kuznik, D, Dose, M, Squitieri, F, Albanese, A, Abbruzzese, Giovanni, Filla, A, van de Warrenburg, B, de Jong, D, Kremer, H, van Vugt, J, Grimbergen, Y, Roos, R, Gawel, M, Janik, P, Kowalczys, H, Pilczuk, B, Kwiecinski, H, Świat, M, Ochudło, S, Modestowicz, R, Niezgoda, A, Łukasik, M, Lukasik, M, García Ruiz, P, Descals, Am, Rojo, A, Fontán, A, Hernández, J, Cantarero, S, Fanjul, S, Alegre, J, Roldán, Sg, Mateo, D, Burguera, Ja, Solis, P, Calopa, M, Jaumà, S, Bas, J, Tolosa, E, Muñoz, Je, Gámez, J, Cervera, C, Zarranz, Jj, Lezcano, E, Gómez, Jc, Chacón, J, Dinca, L, Gamero, Ma, Redondo, L, Castro, A, Sesar, A, López del Val, J, López, E, Ríos, C, Castillio, V, Burgunder, Jm, Nirkko, A, Kälin, A, Vingerhoets, F, and Wider, C.

Published
2012

18. Weight loss in Huntington disease increases with higher CAG repeat number

Author

Aziz, Na, van der Burg, Jm, Landwehrmeyer, Gb, Brundin, P, Stijnen, T, Ehdi, Sg, Roos, Ra, Zangerl, A, Seppi, K, Wenning, G, Poewe, W, Foeldy, D, Auff, E, Schober, T, Wenzel, K, Ott, E, Walli, J, Leblhuber, F, Dürr, A, Bloch, F, Messouak, O, Tallaksen, C, Dubois, B, Guillamo, Js, Bachoud Lévi, Ac, Engles, A, Krystkowiak, P, Destée, A, Memin, A, Thibaut Tanchou, S, Pasquier, F, Azulay, Jp, Demonet, Jf, Galitzky, M, Rascol, O, Mollion, H, Broussolle, E, Madigand, M, Lallement, F, Goizet, C, Tison, F, Arguillère, S, Viallet, F, Bakchine, S, Khoris, J, Pages, M, Camu, W, Resch, F, Hannequin, D, Durif, F, Saudeau, D, Autret, A, Andrich, J, Saft, C, Kraus, Ph, Przuntek, H, Ecker, D, Kramer, B, Ludolph, Ac, Priller, J, Meierkord, H, Kuznik, D, Dose, M, Squitieri, F, Albanese, A, Abbruzzese, Giovanni, Filla, A, van de Warrenburg, B, de Jong, D, Kremer, H, van Vugt, J, Grimbergen, Y, Roos, R, Gawel, M, Janik, P, Kowalczys, H, Pilczuk, B, Kwiecinski, H, Swiat, M, Ochudło, S, Modestowicz, R, Niezgoda, A, Łukasik, M, Garcia de Yébenes, J, García Ruiz, P, Martínez Descals, A, Rojo, A, Fontán, A, Hernández, J, Cantarero, S, Fanjul, S, Alegre, J, Giménez Roldán, S, Mateo, D, Burguera, Ja, Solis, P, Calopa, M, Jaumà, S, Bas, J, Tolosa, E, Muñoz, Je, Gámez, J, Cervera, C, Zarranz, Jj, Lezcano, E, Gómez, Jc, Chacón, J, Dinca, L, Gamero, Ma, Redondo, L, Castro, A, Sesar, A, López del Val, J, López, E, Ríos, C, Castillio, V, Burgunder, Jm, Nirkko, A, Kälin, A, Vingerhoets, F, Wider, C., N. A., Aziz, J. M., M, G. B., Landwehrmeyer, P., Brundin, T., Stijnen, E. H. D., R. A. C., and Filla, Alessandro

Subjects
Male, Pathology, therapeutic use, Nuclear Protein, Neurology, Disease, Body Mass Index, Placebos, Mice, Degenerative disease, Trinucleotide Repeats, Weight loss, genetics, Huntingtin Protein, Riluzole, Nuclear Proteins, Middle Aged, Huntington Disease, Neuroprotective Agents, Inbred C57BL, Mice, genetics/metabolism, Placebos, Riluzole, Female, medicine.symptom, Psychology, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Mice, Transgenic, Nerve Tissue Proteins, Animal, Energy Intake, Female, Humans, Huntington Disease, Central nervous system disease, therapeutic use, Trinucleotide Repeats, Weight Lo, Internal medicine, Weight Loss, mental disorders, medicine, Animals, Humans, Hereditary Neurodegenerative Disorder, Transgenic, Middle Aged, Nerve Tissue Protein, Aged, drug therapy/genetics/physiopathology, Male, Mice, Mice, Body Weight, medicine.disease, Adult, Aged, Animals, Body Mass Index, Body Weight, Disease Model, Mice, Inbred C57BL, Disease Models, Animal, Endocrinology, genetics/metabolism, Neuroprotective Agent, Neurology (clinical), Energy Intake, Body mass index
Abstract

Huntington disease (HD) is a hereditary neurodegenerative disorder caused by an expanded number of CAG repeats in the huntingtin gene. A hallmark of HD is unintended weight loss, the cause of which is unknown. In order to elucidate the underlying mechanisms of weight loss in HD, we studied its relation to other disease characteristics including motor, cognitive, and behavioral disturbances and CAG repeat number.In 517 patients with early stage HD, we applied mixed-effects model analyses to correlate weight changes over 3 years to CAG repeat number and various components of the Unified Huntington's Disease Rating Scale (UHDRS). We also assessed the relation between CAG repeat number and body weight and caloric intake in the R6/2 mouse model of HD.In patients with HD, mean body mass index decreased with -0.15 units per year (p < 0.001). However, no single UHDRS component, including motor, cognitive, and behavioral scores, was independently associated with the rate of weight loss. Patients with HD with a higher CAG repeat number had a faster rate of weight loss. Similarly, R6/2 mice with a larger CAG repeat length had a lower body weight, whereas caloric intake increased with larger CAG repeat length.Weight loss in Huntington disease (HD) is directly linked to CAG repeat length and is likely to result from a hypermetabolic state. Other signs and symptoms of HD are unlikely to contribute to weight loss in early disease stages. Elucidation of the responsible mechanisms could lead to effective energy-based therapeutics.

Published
2008

19. Long duration response to levodopa in advanced Parkinson's disease patients treated with subthalamic deep brain stimulation

Author

Wider, C.

Abstract

Résumé La levodopa (LD) est le traitement antiparkinsonien le plus efficace et le plus répandu. Son effet est composé d'une réponse de courte (quelques heures) et de longue durée (jours à semaines). La persistance de cette dernière dans les phases avancées de la maladie de Parkinson est controversée, et sa mesure directe n'a jamais été faite en raison des risques liés à un sevrage complet de LD. La stimulation du noyau sous-thalamique est un nouveau traitement neurochirurgical de la maladie de Parkinson, indiqué dans les formes avancées, qui permet l'arrêt complet du traitement médicamenteux chez certains patients. Nous avons étudié 30 patients qui ont bénéficié d'une telle stimulation, et les avons évalués avant l'intervention sans médicaments, et à 6 mois postopératoires, sans médicaments et sans stimulation. Chez 19 patients, la médication a pu être complètement arrêtée, alors qu'elle a dû être réintroduite chez les 11 patients restants. Au cours des 6 mois qui ont suivi l'intervention, le parkinsonisme s'est aggravé de façon significative dans le groupe sans LD, et non dans le groupe avec LD. Cette différence d'évolution s'explique par la perte de l'effet à long terme de la LD dans le groupe chez qui ce médicament a pu être arrêté. En comparant cette aggravation à la magnitude de l'effet à court terme, la réponse de longue durée correspond environ à 80 pourcent de la réponse de courte durée, et elle lui est inversement corrélée. Parmi les signes cardinaux de la maladie, la réponse de longue durée affecte surtout la bradycinésie et la rigidité, mais pas le tremblement ni la composante axiale. La comparaison du parkinsonisme avec traitement (stimulation et LD si applicable) ne montre aucune différence d'évolution entre les 2 groupes, suggérant que la stimulation compense tant la réponse de courte que de longue durée. Notre travail montre que la réponse de longue durée à la LD demeure significative chez les patients parkinsoniens après plus de 15 ans d'évolution, et suggère que la stimulation du noyau sous-thalamique compense les réponses de courte et de longue durée. Abstract Background: Long duration response to levodopa is supposed to decrease with Parkinson's disease (PD) progression, but direct observation of this response in advanced PD has never been performed. Objective: To study the long duration response to levodopa in advanced PD patients treated with subthalamic deep-brain stimulation. Design and settings: We studied 30 consecutive PD patients who underwent subthalamic deep-brain stimulation. One group had no antiparkinsonian treatment since surgery (no levodopa), while medical treatment had to be reinitiated in the other group (levodopa). Main outcome measures: motor Unified Parkinson's Disease Rating Scale (UPDRS). Results: In comparison with preoperative assessment, evaluation six months postoperatively with stimulation turned off for three hours found a worsening of the motor part of UPDRS in the no-levodopa group. This worsening being absent in the levodopa group, it most probably reflected the loss of the long duration response to levodopa in the no-levodopa group. Stimulation turned on, postoperative motor UPDRS in both groups were similar to preoperative on medication scores, suggesting that subthalamic deep-brain stimulation compensated for both the short and long duration responses to levodopa. Conclusions: Our results suggest that the long duration response to levodopa remains significant even in advanced PD, and that subthalamic deep-brain stimulation compensates for both the short and the long duration resposes to levodopa.

Published
2006

20. Dégénérescence, régénérescence : un espoir thérapeutique pour la maladie de Parkinson

Author

Wider, C, Burkhard, Pierre, Sajadi, A, and Vingerhoets, François

Subjects
Neurons/cytology, Glial Cell Line-Derived Neurotrophic Factor/therapeutic use, Cell Death, Animals, Humans, Parkinson Disease/pathology/therapy, ddc:576, ddc:616.8
Abstract

Neurodegenerative disorders represent a major and growing cause of morbidity and mortality in our populations, and a therapeutic challenge for the years to come. This paper reviews the mechanisms implicated in neuronal death, focusing on the model of Parkinson's disease. Available data are critically presented, and oriented in a therapeutic perspective. Neuroprotective strategies are mentioned, along with stem cell transplantation, growth factor production and gene therapy.

Published
2006

26. CSF1R mutations link POLD and HDLS as a single disease entity

Author

Nicholson, A. M., primary, Baker, M. C., additional, Finch, N. A., additional, Rutherford, N. J., additional, Wider, C., additional, Graff-Radford, N. R., additional, Nelson, P. T., additional, Clark, H. B., additional, Wszolek, Z. K., additional, Dickson, D. W., additional, Knopman, D. S., additional, and Rademakers, R., additional

Published
2013
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27. MRI characteristics and scoring in HDLS due to CSF1R gene mutations

Author

Sundal, C., primary, Van Gerpen, J. A., additional, Nicholson, A. M., additional, Wider, C., additional, Shuster, E. A., additional, Aasly, J., additional, Spina, S., additional, Ghetti, B., additional, Roeber, S., additional, Garbern, J., additional, Borjesson-Hanson, A., additional, Tselis, A., additional, Swerdlow, R. H., additional, Miller, B. B., additional, Fujioka, S., additional, Heckman, M. G., additional, Uitti, R. J., additional, Josephs, K. A., additional, Baker, M., additional, Andersen, O., additional, Rademakers, R., additional, Dickson, D. W., additional, Broderick, D., additional, and Wszolek, Z. K., additional

Published
2012
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28. HDLS: Due to CSF1R Gene Mutation; Clinical Characteristics (P05.119)

Author

Sundal, C., primary, Van Gerpen, J., additional, Fujioka, S., additional, Aasly, J., additional, Wider, C., additional, Roeber, S., additional, Shuster, E., additional, Ghetti, B., additional, Garbern, J., additional, Tselis, A., additional, Swerdlow, R., additional, Rademakers, R., additional, Dickson, D., additional, Broderick, D., additional, and Wszolek, Z., additional

Published
2012
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29. Observational Study for MRI Characteristics in HDLS with a Known Gene Mutation on Chromosome 5 (P06.180)

Author

Sundal, C., primary, Fujioka, S., additional, Van Gerpen, J., additional, Wider, C., additional, Aasly, J., additional, Roeber, S., additional, Shuster, E., additional, Ghetti, B., additional, Garbern, J., additional, Tselis, A., additional, Swerdlow, R., additional, Miller, B., additional, Rademakers, R., additional, Dickson, D., additional, Broderick, D., additional, and Wszolek, Z., additional

Published
2012
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32. SNCA,MAPT, andGSK3Bin Parkinson disease: a gene-gene interaction study

Author

Wider, C., primary, Vilariño-Güell, C., additional, Heckman, M. G., additional, Jasinska-Myga, B., additional, Ortolaza-Soto, A. I., additional, Diehl, N. N., additional, Crook, J. E., additional, Cobb, S. A., additional, Bacon, J. A., additional, Aasly, J. O., additional, Gibson, J. M., additional, Lynch, T., additional, Uitti, R. J., additional, Wszolek, Z. K., additional, Farrer, M. J., additional, and Ross, O. A., additional

Published
2010
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33. Death-associated protein kinase 1 variation and Parkinson’s disease

Author

Dachsel, J. C., primary, Wider, C., additional, Vilariño-Güell, C., additional, Aasly, J. O., additional, Rajput, A., additional, Rajput, A. H., additional, Lynch, T., additional, Craig, D., additional, Krygowska-Wajs, A., additional, Jasinska-Myga, B., additional, Opala, G., additional, Barcikowska, M., additional, Czyzewski, K., additional, Wu, R. -M., additional, Heckman, M. G., additional, Uitti, R. J., additional, Wszolek, Z. K., additional, Farrer, M. J., additional, and Ross, O. A., additional

Published
2010
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36. Association of theMAPTlocus with Parkinson’s disease

Author

Wider, C., primary, Vilariño-Güell, C., additional, Jasinska-Myga, B., additional, Heckman, M. G., additional, Soto-Ortolaza, A. I., additional, Cobb, S. A., additional, Aasly, J. O., additional, Gibson, J. M., additional, Lynch, T., additional, Uitti, R. J., additional, Wszolek, Z. K., additional, Farrer, M. J., additional, and Ross, O. A., additional

Published
2009
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37. A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease

Author

Nishioka, K., primary, Kefi, M., additional, Jasinska-Myga, B., additional, Wider, C., additional, Vilarino-Guell, C., additional, Ross, O. A, additional, Heckman, M. G, additional, Middleton, L. T, additional, Ishihara-Paul, L., additional, Gibson, R. A, additional, Amouri, R., additional, Ben Yahmed, S., additional, Ben Sassi, S., additional, Zouari, M., additional, El Euch, G., additional, Farrer, M. J, additional, and Hentati, F., additional

Published
2009
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38. Calbindin-1association and Parkinson’s disease

Author

Soto-Ortolaza, A. I., primary, Behrouz, B., additional, Wider, C., additional, Vilariño-Güell, C., additional, Heckman, M. G., additional, Aasly, J. O., additional, Mark Gibson, J., additional, Lynch, T., additional, Jasinska-Myga, B., additional, Krygowska-Wajs, A., additional, Opala, G., additional, Barcikowska, M., additional, Czyzewski, K., additional, Uitti, R. J., additional, Wszolek, Z. K., additional, Farrer, M. J., additional, and Ross, O. A., additional

Published
2009
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39. GRN3′UTR+78 C>T is not associated with risk for Parkinson’s disease

Author

Jasinska-Myga, B., primary, Wider, C., additional, Opala, G., additional, Krygowska-Wajs, A., additional, Barcikowska, M., additional, Czyzewski, K., additional, Baker, M., additional, Rademakers, R., additional, Uitti, R. J., additional, Farrer, M. J., additional, Ross, O. A., additional, and Wszolek, Z. K., additional

Published
2009
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40. Characterization of DCTN1 genetic variability in neurodegeneration

Author

Vilarino-Guell, C., primary, Wider, C., additional, Soto-Ortolaza, A. I., additional, Cobb, S. A., additional, Kachergus, J. M., additional, Keeling, B. H., additional, Dachsel, J. C., additional, Hulihan, M. M., additional, Dickson, D. W., additional, Wszolek, Z. K., additional, Uitti, R. J., additional, Graff-Radford, N. R., additional, Boeve, B. F., additional, Josephs, K. A., additional, Miller, B., additional, Boylan, K. B., additional, Gwinn, K., additional, Adler, C. H., additional, Aasly, J. O., additional, Hentati, F., additional, Destee, A., additional, Krygowska-Wajs, A., additional, Chartier-Harlin, M. -C., additional, Ross, O. A., additional, Rademakers, R., additional, and Farrer, M. J., additional

Published
2009
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42. Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1

Author

Wider, C., primary, Melquist, S., additional, Hauf, M., additional, Solida, A., additional, Cobb, S. A., additional, Kachergus, J. M., additional, Gass, J., additional, Coon, K. D., additional, Baker, M., additional, Cannon, A., additional, Stephan, D. A., additional, Schorderet, D. F., additional, Ghika, J., additional, Burkhard, P. R., additional, Kapatos, G., additional, Hutton, M., additional, Farrer, M. J., additional, Wszolek, Z. K., additional, and Vingerhoets, F.J.G., additional

Published
2008
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46. A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease.

Author

Nishioka K, Kefi M, Jasinska-Myga B, Wider C, Vilariño-Güell C, Ross OA, Heckman MG, Middleton LT, Ishihara-Paul L, Gibson RA, Amouri R, Ben Yahmed S, Ben Sassi S, Zouari M, El Euch G, Farrer MJ, Hentati F, Nishioka, Kenya, Kefi, Mounir, and Jasinska-Myga, Barbara

Abstract

Genetic classification of Parkinson's disease (PD) subtypes may become the preferred diagnostic tool for neurologists. Herein we compare clinical features from a large cohort of patients with familial PD of unknown aetiology or attributable to distinct genetic forms. Comprehensive neurological examinations were performed in 231 familial PD patients from Tunisia. Analysis was previously performed to screen for mutations in leucine rich repeat kinase 2 (LRRK2), PTEN induced kinase 1 (PINK1) and parkin (PRKN). Clinical features were compared between patients with genetically undefined PD (n=107) and those with LRRK2 (n=73) and PINK1 (n=42) mutations using regression analyses adjusted for gender, age of onset and disease duration. PRKN cases (n=9) were too few for meaningful statistical analysis. In comparison with genetically undefined patients, LRRK2 mutation carriers had more severe motor symptoms (median Unified Parkinson's Disease Rating Scale scores approximately 1.6 times higher, p<0.001), a higher rate of dyskinesia (OR 4.21, p=0.002) and use of dopamine agonists (OR 3.64, p<0.001), and less postural tremor (OR 0.21, p<0.001). PINK1 mutation carriers presented an increased rate of drug induced dyskinesia (OR 3.81, p=0.007) and a lower rate of postural tremor (OR 0.16, p<0.001) than genetically undefined patients. As expected, PINK1 patients had younger ages and ages at disease onset, and a longer disease duration compared with LRRK2 mutation carriers and genetically undefined patients. Clinical differences between LRRK2, PINK1 and genetically undefined familial PD appear more pronounced than previously appreciated, and may prove useful in clinical practice. As future therapies are targeted to specific protein abnormalities, identifying the genetic causes and associated clinical and pathological features will determine diagnosis, preventative medicine and drug intervention strategies. [ABSTRACT FROM AUTHOR]

Published
2010
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47. FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression.

Author

Wider C, Dachsel JC, Soto AI, Heckman MG, Diehl NN, Yue M, Lincoln S, Aasly JO, Haugarvoll K, Trojanowski JQ, Papapetropoulos S, Mash D, Rajput A, Rajput AH, Gibson JM, Lynch T, Dickson DW, Uitti RJ, Wszolek ZK, and Farrer MJ

Abstract

Genetic variation in fibroblast growth factor 20 (FGF20) has been associated with risk of Parkinson's disease (PD). Functional evidence suggested the T allele of one SNP, rs12720208 C/T, altered PD risk by increasing FGF20 and alpha-synuclein protein levels. Herein we report our association study of FGF20 and PD risk in four patient-control series (total: 1,262 patients and 1,881 controls), and measurements of FGF20 and alpha-synuclein protein levels in brain samples (nine patients). We found no evidence of association between FGF20 variability and PD risk, and no relationship between the rs12720208 genotype, FGF20 and alpha-synuclein protein levels. [ABSTRACT FROM AUTHOR]

Published
2009
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48. Characterization of DCTN1genetic variability in neurodegeneration

Author

Vilariño-Güell, C, Wider, C, Soto-Ortolaza, A I., Cobb, S A., Kachergus, J M., Keeling, B H., Dachsel, J C., Hulihan, M M., Dickson, D W., Wszolek, Z K., Uitti, R J., Graff-Radford, N R., Boeve, B F., Josephs, K A., Miller, B, Boylan, K B., Gwinn, K, Adler, C H., Aasly, J O., Hentati, F, Destée, A, Krygowska-Wajs, A, Chartier-Harlin, M -C., Ross, O A., Rademakers, R, and Farrer, M J.

Abstract

Recently, mutations in DCTN1were found to cause Perry syndrome, a parkinsonian disorder with TDP-43-positive pathology. Previously, mutations in DCTN1were identified in a family with lower motor neuron disease, in amyotrophic lateral sclerosis (ALS), and in a family with ALS/frontotemporal dementia (FTD), suggesting a central role for DCTN1in neurodegeneration.

Published
2009
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50. Collaborateurs

Author

Albrecht, E., Bernath, M.-A., Blanc, C., Buchser, E., Buclin, T., Calderari, B., Cavin, F., Chassot, P.-G., Chollet-Rivier, M., Coronado, M., Decosterd, I., Denys, A., Dolci, M., Fitting, J.-W., Freymond, D., Gardaz, J.-P., Gilliard, N., Haberer, J.-P., Jolles-Haeberli, B., Kern, Ch., Langenberger, T., Lyon, X., Martins-Favre, M., Moret, V., Mondragon, P., Mustaki, J.-P., Perruchoud, Ch., Portmann, L., Prior, J., Revelly, J.-P., Rutschmann, B., Samama, C.-M., Seemater, G., Schoettker, P., Suter, M., Teta, D., Thierrin, L., Villet, S., Wider, C., and Zanetti, G.

Published
2009
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