Search

Your search keyword '"Cresswell S"' showing total 123 results
Start Over Author "Cresswell S"
123 results on '"Cresswell S"'

1. 'Managing your flexibility in a paradoxical system' : a constructivist grounded theory study of mental health clinician's experience within youth justice services

Author

Cresswell, S.

Subjects
BF Psychology
Abstract

Purpose - This paper explores the experiences of a sample of mental health clinicians (MHCs) who understood the process and experience of 'doing mental health work' within youth justice services (YJS), with a specific interest in their knowledge of the organisational environment and how this interacts with their clinical work. Design/Methodology/Approach - Twelve mental health clinicians from mixed professional backgrounds were purposefully sampled from various youth justice services across the UK. Participants were interviewed using semi-structured interviews, and the data were analysed using the constructivist grounded theory method (CGTM). Findings - A conceptual model was co-constructed of Managing Your Flexibility and is explained across four categories: - Organisational Life, Adapted Clinical Practice, Moderating Relational Factors, and Moderating Individual Factors. A further twelve subcategories were defined. The model emphasises how MHCs adapted their practice, requiring specialist skills and experience, viewing 'relational practice' as central to their successful positioning within the teams and their work. The tasks of consultation and systemic thinking are viewed as instructive in alleviating the more harmful aspects of organisational life, contributing to collective resilience. Originality/Value - This is the first paper to explore this experience within this context using CGTM. The study contributes to the broader debate questioning whether forensic settings are principally counter-therapeutic and whether competing agendas and the paradoxical nature of 'welfare versus offending' are compatible.

Published
2021

3. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Author

Vollstedt, E.-J. Schaake, S. Lohmann, K. Padmanabhan, S. Brice, A. Lesage, S. Tesson, C. Vidailhet, M. Wurster, I. Hentati, F. Mirelman, A. Giladi, N. Marder, K. Waters, C. Fahn, S. Kasten, M. Brüggemann, N. Borsche, M. Foroud, T. Tolosa, E. Garrido, A. Annesi, G. Gagliardi, M. Bozi, M. Stefanis, L. Ferreira, J.J. Correia Guedes, L. Avenali, M. Petrucci, S. Clark, L. Fedotova, E.Y. Abramycheva, N.Y. Alvarez, V. Menéndez-González, M. Jesús Maestre, S. Gómez-Garre, P. Mir, P. Belin, A.C. Ran, C. Lin, C.-H. Kuo, M.-C. Crosiers, D. Wszolek, Z.K. Ross, O.A. Jankovic, J. Nishioka, K. Funayama, M. Clarimon, J. Williams-Gray, C.H. Camacho, M. Cornejo-Olivas, M. Torres-Ramirez, L. Wu, Y.-R. Lee-Chen, G.-J. Morgadinho, A. Pulkes, T. Termsarasab, P. Berg, D. Kuhlenbäumer, G. Kühn, A.A. Borngräber, F. de Michele, G. De Rosa, A. Zimprich, A. Puschmann, A. Mellick, G.D. Dorszewska, J. Carr, J. Ferese, R. Gambardella, S. Chase, B. Markopoulou, K. Satake, W. Toda, T. Rossi, M. Merello, M. Lynch, T. Olszewska, D.A. Lim, S.-Y. Ahmad-Annuar, A. Tan, A.H. Al-Mubarak, B. Hanagasi, H. Koziorowski, D. Ertan, S. Genç, G. de Carvalho Aguiar, P. Barkhuizen, M. Pimentel, M.M.G. Saunders-Pullman, R. van de Warrenburg, B. Bressman, S. Toft, M. Appel-Cresswell, S. Lang, A.E. Skorvanek, M. Boon, A.J.W. Krüger, R. Sammler, E.M. Tumas, V. Zhang, B.-R. Garraux, G. Chung, S.J. Kim, Y.J. Winkelmann, J. Sue, C.M. Tan, E.-K. Damásio, J. Klivényi, P. Kostic, V.S. Arkadir, D. Martikainen, M. Borges, V. Hertz, J.M. Brighina, L. Spitz, M. Suchowersky, O. Riess, O. Das, P. Mollenhauer, B. Gatto, E.M. Petersen, M.S. Hattori, N. Wu, R.-M. Illarioshkin, S.N. Valente, E.M. Aasly, J.O. Aasly, A. Alcalay, R.N. Thaler, A. Farrer, M.J. Brockmann, K. Corvol, J.-C. Klein, C. Aasly, A. Aasly, J.O. Abramycheva, N.Y. Ahmad-Annuar, A. Albanese, A. Alcalay, R.N. Aldakheel, A. Alkhairallah, T. Al-Mubarak, B. Al-tassan, N. Alvarez, V. Amami, P. Annesi, G. Appel-Cresswell, S. Leite, M.A.A. Arkadir, D. Avenali, M. Ferraz, H.B. and Vollstedt, E.-J. Schaake, S. Lohmann, K. Padmanabhan, S. Brice, A. Lesage, S. Tesson, C. Vidailhet, M. Wurster, I. Hentati, F. Mirelman, A. Giladi, N. Marder, K. Waters, C. Fahn, S. Kasten, M. Brüggemann, N. Borsche, M. Foroud, T. Tolosa, E. Garrido, A. Annesi, G. Gagliardi, M. Bozi, M. Stefanis, L. Ferreira, J.J. Correia Guedes, L. Avenali, M. Petrucci, S. Clark, L. Fedotova, E.Y. Abramycheva, N.Y. Alvarez, V. Menéndez-González, M. Jesús Maestre, S. Gómez-Garre, P. Mir, P. Belin, A.C. Ran, C. Lin, C.-H. Kuo, M.-C. Crosiers, D. Wszolek, Z.K. Ross, O.A. Jankovic, J. Nishioka, K. Funayama, M. Clarimon, J. Williams-Gray, C.H. Camacho, M. Cornejo-Olivas, M. Torres-Ramirez, L. Wu, Y.-R. Lee-Chen, G.-J. Morgadinho, A. Pulkes, T. Termsarasab, P. Berg, D. Kuhlenbäumer, G. Kühn, A.A. Borngräber, F. de Michele, G. De Rosa, A. Zimprich, A. Puschmann, A. Mellick, G.D. Dorszewska, J. Carr, J. Ferese, R. Gambardella, S. Chase, B. Markopoulou, K. Satake, W. Toda, T. Rossi, M. Merello, M. Lynch, T. Olszewska, D.A. Lim, S.-Y. Ahmad-Annuar, A. Tan, A.H. Al-Mubarak, B. Hanagasi, H. Koziorowski, D. Ertan, S. Genç, G. de Carvalho Aguiar, P. Barkhuizen, M. Pimentel, M.M.G. Saunders-Pullman, R. van de Warrenburg, B. Bressman, S. Toft, M. Appel-Cresswell, S. Lang, A.E. Skorvanek, M. Boon, A.J.W. Krüger, R. Sammler, E.M. Tumas, V. Zhang, B.-R. Garraux, G. Chung, S.J. Kim, Y.J. Winkelmann, J. Sue, C.M. Tan, E.-K. Damásio, J. Klivényi, P. Kostic, V.S. Arkadir, D. Martikainen, M. Borges, V. Hertz, J.M. Brighina, L. Spitz, M. Suchowersky, O. Riess, O. Das, P. Mollenhauer, B. Gatto, E.M. Petersen, M.S. Hattori, N. Wu, R.-M. Illarioshkin, S.N. Valente, E.M. Aasly, J.O. Aasly, A. Alcalay, R.N. Thaler, A. Farrer, M.J. Brockmann, K. Corvol, J.-C. Klein, C. Aasly, A. Aasly, J.O. Abramycheva, N.Y. Ahmad-Annuar, A. Albanese, A. Alcalay, R.N. Aldakheel, A. Alkhairallah, T. Al-Mubarak, B. Al-tassan, N. Alvarez, V. Amami, P. Annesi, G. Appel-Cresswell, S. Leite, M.A.A. Arkadir, D. Avenali, M. Ferraz, H.B.

Abstract

Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objective: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. Methods: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed. Results: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. Conclusions: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view to

Published
2023

4. The Pain in Dystonia Scale (PIDS)—Development and Validation in Cervical Dystonia

Author

Bruno, V. Achen, B. Morgante, F. Erro, R. Fox, S.H. Edwards, M.J. Schrag, A. Stamelou, M. Appel-Cresswell, S. Defazio, G. Chaudhuri, K.R. Pirio Richardson, S. Jinnah, H.A. Martino, D. and Bruno, V. Achen, B. Morgante, F. Erro, R. Fox, S.H. Edwards, M.J. Schrag, A. Stamelou, M. Appel-Cresswell, S. Defazio, G. Chaudhuri, K.R. Pirio Richardson, S. Jinnah, H.A. Martino, D.

Published
2023

5. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Author

Vollstedt, E.J., Schaake, S., Lohmann, K., Padmanabhan, S., Brice, A., Lesage, S., Tesson, C., Vidailhet, M., Wurster, I., Hentati, F., Mirelman, A., Giladi, N., Marder, K., Waters, C., Fahn, S., Kasten, M., Brüggemann, N., Borsche, M., Foroud, T., Tolosa, E., Garrido, A., Annesi, G., Gagliardi, M., Bozi, M., Stefanis, L., Ferreira, J.J., Guedes, L. Correia, Avenali, M., Petrucci, S., Clark, L., Fedotova, E.Y., Abramycheva, N.Y., Alvarez, V., Menéndez-González, M., Maestre, S. Jesús, Gómez-Garre, P., Mir, P., Belin, A.C., Ran, C., Lin, Chih-Yu, Kuo, M.C., Crosiers, D., Wszolek, Z.K., Ross, O.A., Jankovic, J., Nishioka, K., Funayama, M., Clarimon, J., Williams-Gray, C.H., Camacho, M., Cornejo-Olivas, M., Torres-Ramirez, L., Wu, Y.R., Lee-Chen, G.J., Morgadinho, A., Pulkes, T., Termsarasab, P., Berg, D., Kuhlenbäumer, G., Kühn, A.A., Borngräber, F., Michele, G. de, Rosa, A. De, Zimprich, A., Puschmann, A., Mellick, G.D., Dorszewska, J., Carr, J., Ferese, R., Gambardella, S., Chase, B., Markopoulou, K., Satake, W., Toda, T., Rossi, M., Merello, M., Lynch, T., Olszewska, D.A., Lim, S.Y., Ahmad-Annuar, A., Tan, A.H., Al-Mubarak, B., Hanagasi, H., Koziorowski, D., Ertan, S., Genç, G., Aguiar, P. de Carvalho, Barkhuizen, M., Pimentel, M.M.G., Saunders-Pullman, R., Warrenburg, B.P.C. van de, Bressman, S., Toft, M., Appel-Cresswell, S., Lang, A.E., Skorvanek, M., Boon, A.J., Krüger, R., Sammler, E.M., Tumas, V., et al., Vollstedt, E.J., Schaake, S., Lohmann, K., Padmanabhan, S., Brice, A., Lesage, S., Tesson, C., Vidailhet, M., Wurster, I., Hentati, F., Mirelman, A., Giladi, N., Marder, K., Waters, C., Fahn, S., Kasten, M., Brüggemann, N., Borsche, M., Foroud, T., Tolosa, E., Garrido, A., Annesi, G., Gagliardi, M., Bozi, M., Stefanis, L., Ferreira, J.J., Guedes, L. Correia, Avenali, M., Petrucci, S., Clark, L., Fedotova, E.Y., Abramycheva, N.Y., Alvarez, V., Menéndez-González, M., Maestre, S. Jesús, Gómez-Garre, P., Mir, P., Belin, A.C., Ran, C., Lin, Chih-Yu, Kuo, M.C., Crosiers, D., Wszolek, Z.K., Ross, O.A., Jankovic, J., Nishioka, K., Funayama, M., Clarimon, J., Williams-Gray, C.H., Camacho, M., Cornejo-Olivas, M., Torres-Ramirez, L., Wu, Y.R., Lee-Chen, G.J., Morgadinho, A., Pulkes, T., Termsarasab, P., Berg, D., Kuhlenbäumer, G., Kühn, A.A., Borngräber, F., Michele, G. de, Rosa, A. De, Zimprich, A., Puschmann, A., Mellick, G.D., Dorszewska, J., Carr, J., Ferese, R., Gambardella, S., Chase, B., Markopoulou, K., Satake, W., Toda, T., Rossi, M., Merello, M., Lynch, T., Olszewska, D.A., Lim, S.Y., Ahmad-Annuar, A., Tan, A.H., Al-Mubarak, B., Hanagasi, H., Koziorowski, D., Ertan, S., Genç, G., Aguiar, P. de Carvalho, Barkhuizen, M., Pimentel, M.M.G., Saunders-Pullman, R., Warrenburg, B.P.C. van de, Bressman, S., Toft, M., Appel-Cresswell, S., Lang, A.E., Skorvanek, M., Boon, A.J., Krüger, R., Sammler, E.M., and Tumas, V., et al.

Abstract

Item does not contain fulltext, BACKGROUND: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. OBJECTIVE: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. METHODS: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed. RESULTS: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. CONCLUSIONS: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward

Published
2023

6. Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD cohort

Author

Ertan, Fatoş Sibel (ORCID 0000-0003-1339-243X & YÖK ID 112829), Vollstedt, E.J.; Schaake, S.; Lohmann, K.; Padmanabhan, S.; Brice, A.; Lesage, S.; Tesson, C.; Vidailhet, M.; Wurster, I.; Hentati, F.; Mirelman, A.; Giladi, N.; Marder, K.; Waters, C.; Fahn, S.; Kasten, M.; Brüggemann, N.; Borsche, M.; Foroud, T.; Tolosa, E.; Garrido, A.; Annesi, G.; Gagliardi, M.; Bozi, M.; Stefanis, L.; Ferreira, J.J.; Guedes, L.C.; Avenali, M.; Petrucci, S.; Clark, L.; Fedotova, E.Y.; Abramycheva, N.Y.; Alvarez, V.; Menéndez-González, M.; Maestre, SJ.; Gómez-Garre, P.; Mir, P.; Belin, A.C.; Ran, C.; Lin, C.H.; Kuo, M.C.; Crosiers, D.; Wszolek, Z.K.; Ross, O.A.; Jankovic, J.; Nishioka, K.; Funayama, M.; Clarimon, J.; Williams-Gray, C.H.; Camacho, M.; Cornejo-Olivas, M.; Torres-Ramirez, L.; Wu, YR.; Lee-Chen, G.J.; Morgadinho, A.; Pulkes, T.; Termsarasab, P.; Berg, D.; Kuhlenbäumer, G.; Kühn, A.A.; Borngräber, F.; de Michele, G.; De Rosa, A.; Zimprich, A.; Puschmann, A.; Mellick, GD.; Dorszewska, J.; Carr, J.; Ferese, R.; Gambardella, S.; Chase, B.; Markopoulou, K.; Satake, W.; Toda, T.; Rossi, M.; Merello, M.; Lynch, T.; Olszewska, D.A.; Lim, S.Y.; Ahmad-Annuar, A.; Tan, A.H.; Al-Mubarak, B.; Hanagasi, H.; Koziorowski, D.; Genç, G.; Aguiar, P.D.; Barkhuizen, M.; Pimentel, M.M.G.; Saunders-Pullman, R.; van de Warrenburg, B.; Bressman, S.; Toft, M.; Appel-Cresswell, S.; Lang, A.E.; Skorvanek, M.; Boon, A.J.W.; Krüger, R.; Sammler, E.M.; Tumas, V.; Zhang, B.R.; Garraux, G.; Chung, SJ.; Kim, Y.J.; Winkelmann, J.; Sue, C.M.; Tan, E.K.; Damásio, J.; Klivényi, P.; Kostic, V.S.; Arkadir, D.; Martikainen, M.; Borges, V.; Hertz, J.M.; Brighina, L.; Spitz, M.; Suchowersky, O.; Riess, O.; Das, P.; Mollenhauer, B.; Gatto, E.M.; Petersen, M.S.; Hattori, N.; Wu, R.M.; Illarioshkin, S.N.; Valente, E.M.; Aasly, J.O.; Aasly, A.; Alcalay, R.N.; Thaler, A.; Farrer, M.J.; Brockmann, K.; Corvol, J.C.; Klein, C., School of Medicine, Ertan, Fatoş Sibel (ORCID 0000-0003-1339-243X & YÖK ID 112829), Vollstedt, E.J.; Schaake, S.; Lohmann, K.; Padmanabhan, S.; Brice, A.; Lesage, S.; Tesson, C.; Vidailhet, M.; Wurster, I.; Hentati, F.; Mirelman, A.; Giladi, N.; Marder, K.; Waters, C.; Fahn, S.; Kasten, M.; Brüggemann, N.; Borsche, M.; Foroud, T.; Tolosa, E.; Garrido, A.; Annesi, G.; Gagliardi, M.; Bozi, M.; Stefanis, L.; Ferreira, J.J.; Guedes, L.C.; Avenali, M.; Petrucci, S.; Clark, L.; Fedotova, E.Y.; Abramycheva, N.Y.; Alvarez, V.; Menéndez-González, M.; Maestre, SJ.; Gómez-Garre, P.; Mir, P.; Belin, A.C.; Ran, C.; Lin, C.H.; Kuo, M.C.; Crosiers, D.; Wszolek, Z.K.; Ross, O.A.; Jankovic, J.; Nishioka, K.; Funayama, M.; Clarimon, J.; Williams-Gray, C.H.; Camacho, M.; Cornejo-Olivas, M.; Torres-Ramirez, L.; Wu, YR.; Lee-Chen, G.J.; Morgadinho, A.; Pulkes, T.; Termsarasab, P.; Berg, D.; Kuhlenbäumer, G.; Kühn, A.A.; Borngräber, F.; de Michele, G.; De Rosa, A.; Zimprich, A.; Puschmann, A.; Mellick, GD.; Dorszewska, J.; Carr, J.; Ferese, R.; Gambardella, S.; Chase, B.; Markopoulou, K.; Satake, W.; Toda, T.; Rossi, M.; Merello, M.; Lynch, T.; Olszewska, D.A.; Lim, S.Y.; Ahmad-Annuar, A.; Tan, A.H.; Al-Mubarak, B.; Hanagasi, H.; Koziorowski, D.; Genç, G.; Aguiar, P.D.; Barkhuizen, M.; Pimentel, M.M.G.; Saunders-Pullman, R.; van de Warrenburg, B.; Bressman, S.; Toft, M.; Appel-Cresswell, S.; Lang, A.E.; Skorvanek, M.; Boon, A.J.W.; Krüger, R.; Sammler, E.M.; Tumas, V.; Zhang, B.R.; Garraux, G.; Chung, SJ.; Kim, Y.J.; Winkelmann, J.; Sue, C.M.; Tan, E.K.; Damásio, J.; Klivényi, P.; Kostic, V.S.; Arkadir, D.; Martikainen, M.; Borges, V.; Hertz, J.M.; Brighina, L.; Spitz, M.; Suchowersky, O.; Riess, O.; Das, P.; Mollenhauer, B.; Gatto, E.M.; Petersen, M.S.; Hattori, N.; Wu, R.M.; Illarioshkin, S.N.; Valente, E.M.; Aasly, J.O.; Aasly, A.; Alcalay, R.N.; Thaler, A.; Farrer, M.J.; Brockmann, K.; Corvol, J.C.; Klein, C., and School of Medicine

Abstract

Background: as gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objective: the objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. Methods: we conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed. Results: we collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. Conclusions: within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward, Open Access funding enabled and organized by Projekt DEAL. Funding text 1: Carolyn M. Sue: Intellectual Property Rights: WO 2015/157794 A1. Advisory Boards: AbbVie. Employment: Northern Sydney Local Health District, Sydney, Australia. Honoraria: The International Movement Disorder Society for course directorships and invited lectures. Patents: WO 2015/157794 A1. Grants: 2018–22 NHMRC Partnership grant (APP1151906); 2018–22 MRFF NHMRC Practitioner Fellowship (App1136800); 2020–2025 NHMRC Partnership grant (APP11179029); 2020–2023 NHMRC Ideas Grant (APP1184403); 2021–5 MRFF 2020 Genomics Health Futures Mission Grant (APP2007959); 2021–23 ASAP Project grant ; Funding text 2: Natalya Y. Abramycheva: Employment: Research Center of Neurology, Ministry of Science and Higher Education of the Russian Federation, Moscow, Russia. Grants: Russian Science Foundation ; Funding text 3: Rachel Saunders?Pullman: Employment: Icahn School of Medicine at Mount Sinai, New York City, New York, USA. Grants: NIH 1U01NS107016?01A1; Bigglesworth Family Foundation. Others: Bachmann?Strauss Chair ; Funding text 4: Zbigniew K. Wszolek: Advisory Boards: Vigil Neuroscience, Inc. Employment: Mayo Clinic, Jacksonville, Florida, USA. Grants: NIH/NIA and NIH/NINDS (1U19AG063911, FAIN: U19AG063911), Mayo Clinic Center for Regenerative Medicine, PI or co?PI on Biohaven Pharmaceuticals, Inc. (BHV4157?206 and BHV3241?301), Neuraly, Inc. (NLY01?PD?1), and Vigil Neuroscience, Inc. (VGL101?01.001 and VGL101?01.002). He also serves as the co?PI of the Mayo Clinic APDA Center for Advanced Research. Others: Donations from the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson's Research Foundation ; Funding text 5: Vladimir S. Kostic: Employment: School of Medicine, University of Belgrade, Serbia. Grants: Project No 175090 Ministry of Education, Science and Technological Development of Serbia. Project ??28 Serbian Academy of S

Published
2023

10. Using global team science to identify genetic parkinson's disease worldwide

Author

Vollstedt, E, Kasten, M, Klein, C, Aasly, J, Adler, C, Ahmad-Annuar, A, Albanese, A, Alcalay, R, Al-Mubarak, B, Alvarez, V, Andree-Munoz, B, Annesi, G, Appel-Cresswell, S, Arkadir, D, Armasu, S, Barber, T, Bardien, S, Barkhuizen, M, Barrett, M, Basak, A, Beach, T, Benitez, B, Berg, D, Bhatia, K, Binkofski, F, Blauwendraat, C, Bonifati, V, Borges, V, Bozi, M, Brice, A, Brighina, L, Brockmann, K, Brucke, T, Bruggemann, N, Camacho, M, Cardoso, F, Belin, A, Carr, J, Chan, P, Chang-Castello, J, Chase, B, Chen-Plotkin, A, Ju Chung, S, Cilia, R, Clarimon, J, Clark, L, Cornejo-Olivas, M, Corvol, J, Cosentino, C, Cras, P, Crosiers, D, Damasio, J, Das, P, de Carvalho Aguiar, P, De Michele, G, De Rosa, A, Dieguez, E, Dorszewska, J, Erer, S, Ertan, S, Farrer, M, Fedotova, E, Ferese, R, Ferrarese, C, Ferraz, H, Fiala, O, Foroud, T, Friedman, A, Frigerio, R, Funayama, M, Gambardella, S, Garraux, G, Gatto, E, Genc, G, Giladi, N, Goldwurm, S, Gomez-Esteban, J, Gomez-Garre, P, Gorostidi, A, Grosset, D, Hanagasi, H, Hardy, J, Hassan, A, Hattori, N, Hauser, R, Hedera, P, Hentati, F, Hertz, J, Holton, J, Houlden, H, Hutz, M, Ikeuchi, T, Illarioshkin, S, Inca-Martinez, M, Infante, J, Jankovic, J, Jeon, B, Jesus, S, Jimenez-Del-Rio, M, Kaasinen, V, Kataoka, H, Kawakami, H, Kim, Y, Klivenyi, P, Koks, S, Konig, I, Kostic, V, Koziorowski, D, Kruger, R, Krygowska-Wajs, A, Kulisevsky, J, Lai, D, Lang, A, Ledoux, M, Lesage, S, Lim, S, Lin, C, Lohmann, K, Lopera, F, Lopez, G, Lu, C, Lynch, T, Machaczka, M, Madoev, H, Magalhaes, M, Majamaa, K, Maraganore, D, Marder, K, Markopoulou, K, Martikainen, M, Mata, I, Mazzetti, P, Mellick, G, Menendez-Gonzalez, M, Micheli, F, Mirelman, A, Mir, P, Morino, H, Morris, H, Munhoz, R, Naito, A, Olszewska, D, Ozelius, L, Padmanabhan, S, Paisan-Ruiz, C, Payami, H, Peluso, S, Petkovic, S, Petrucci, S, Pezzoli, G, Pimentel, M, Pirker, W, Pramstaller, P, Pulkes, T, Puschmann, A, Quattrone, A, Raggio, V, Ransmayr, G, Rieder, C, Riess, O, Rodriguez-Porcel, F, Rogaeva, E, Ross, O, Ruiz-Martinez, J, Sammler, E, San Luciano, M, Satake, W, Saunders-Pullman, R, Sazci, A, Scherzer, C, Schrag, A, Schumacher-Schuh, A, Sharma, M, Sidransky, E, Singleton, A, Petersen, M, Smolders, S, Spitz, M, Stefanis, L, Struhal, W, Sue, C, Swan, M, Swanberg, M, Taba, P, Taipa, R, Tan, M, Tan, A, Tan, E, Tang, B, Tayebi, N, Thaler, A, Thomas, A, Toda, T, Toft, M, Torres, L, Tumas, V, Valente, E, Van Broeckhoven, C, Vecsei, L, Velez-Pardo, C, Vidailhet, M, Warner, T, Williams-Gray, C, Winkelmann, J, Woitalla, D, Wood, N, Wszolek, Z, Wu, R, Wu, Y, Xie, T, Yoshino, H, Zhang, B, Zimprich, A, Vollstedt E. -J., Kasten M., Klein C., Aasly J., Adler C., Ahmad-Annuar A., Albanese A., Alcalay R. N., Al-Mubarak B., Alvarez V., Andree-Munoz B., Annesi G., Appel-Cresswell S., Arkadir D., Armasu S., Barber T. R., Bardien S., Barkhuizen M., Barrett M. J., Basak A. N., Beach T., Benitez B. A., Berg D., Bhatia K., Binkofski F., Blauwendraat C., Bonifati V., Borges V., Bozi M., Brice A., Brighina L., Brockmann K., Brucke T., Bruggemann N., Camacho M., Cardoso F., Belin A. C., Carr J., Chan P., Chang-Castello J., Chase B., Chen-Plotkin A., Ju Chung S., Cilia R., Clarimon J., Clark L., Cornejo-Olivas M., Corvol J. -C., Cosentino C., Cras P., Crosiers D., Damasio J., Das P., de Carvalho Aguiar P., De Michele G., De Rosa A., Dieguez E., Dorszewska J., Erer S., Ertan S., Farrer M., Fedotova E., Ferese R., Ferrarese C., Ferraz H., Fiala O., Foroud T., Friedman A., Frigerio R., Funayama M., Gambardella S., Garraux G., Gatto E. M., Genc G., Giladi N., Goldwurm S., Gomez-Esteban J. C., Gomez-Garre P., Gorostidi A., Grosset D., Hanagasi H., Hardy J., Hassan A., Hattori N., Hauser R. A., Hedera P., Hentati F., Hertz J. M., Holton J. L., Houlden H., Hutz M. H., Ikeuchi T., Illarioshkin S., Inca-Martinez M., Infante J., Jankovic J., Jeon B. S., Jesus S., Jimenez-Del-Rio M., Kaasinen V., Kataoka H., Kawakami H., Kim Y. J., Klivenyi P., Koks S., Konig I. R., Kostic V., Koziorowski D., Kruger R., Krygowska-Wajs A., Kulisevsky J., Lai D., Lang A., LeDoux M., Lesage S., Lim S. -Y., Lin C. -H., Lohmann K., Lopera F., Lopez G., Lu C. -S., Lynch T., Machaczka M., Madoev H., Magalhaes M., Majamaa K., Maraganore D., Marder K., Markopoulou K., Martikainen M. H., Mata I., Mazzetti P., Mellick G., Menendez-Gonzalez M., Micheli F., Mirelman A., Mir P., Morino H., Morris H., Munhoz R. P., Naito A., Olszewska D. A., Ozelius L. J., Padmanabhan S., Paisan-Ruiz C., Payami H., Peluso S., Petkovic S., Petrucci S., Pezzoli G., Pimentel M., Pirker W., Pramstaller P. P., Pulkes T., Puschmann A., Quattrone A., Raggio V., Ransmayr G., Rieder C., Riess O., Rodriguez-Porcel F., Rogaeva E., Ross O. A., Ruiz-Martinez J., Sammler E., San Luciano M., Satake W., Saunders-Pullman R., Sazci A., Scherzer C., Schrag A., Schumacher-Schuh A., Sharma M., Sidransky E., Singleton A. B., Petersen M. S., Smolders S., Spitz M., Stefanis L., Struhal W., Sue C. M., Swan M., Swanberg M., Taba P., Taipa R., Tan M., Tan A. H., Tan E. -K., Tang B., Tayebi N., Thaler A., Thomas A., Toda T., Toft M., Torres L., Tumas V., Valente E. M., Van Broeckhoven C., Vecsei L., Velez-Pardo C., Vidailhet M., Warner T. T., Williams-Gray C. H., Winkelmann J., Woitalla D., Wood N. W., Wszolek Z. K., Wu R. -M., Wu Y. -R., Xie T., Yoshino H., Zhang B., Zimprich A., Vollstedt, E, Kasten, M, Klein, C, Aasly, J, Adler, C, Ahmad-Annuar, A, Albanese, A, Alcalay, R, Al-Mubarak, B, Alvarez, V, Andree-Munoz, B, Annesi, G, Appel-Cresswell, S, Arkadir, D, Armasu, S, Barber, T, Bardien, S, Barkhuizen, M, Barrett, M, Basak, A, Beach, T, Benitez, B, Berg, D, Bhatia, K, Binkofski, F, Blauwendraat, C, Bonifati, V, Borges, V, Bozi, M, Brice, A, Brighina, L, Brockmann, K, Brucke, T, Bruggemann, N, Camacho, M, Cardoso, F, Belin, A, Carr, J, Chan, P, Chang-Castello, J, Chase, B, Chen-Plotkin, A, Ju Chung, S, Cilia, R, Clarimon, J, Clark, L, Cornejo-Olivas, M, Corvol, J, Cosentino, C, Cras, P, Crosiers, D, Damasio, J, Das, P, de Carvalho Aguiar, P, De Michele, G, De Rosa, A, Dieguez, E, Dorszewska, J, Erer, S, Ertan, S, Farrer, M, Fedotova, E, Ferese, R, Ferrarese, C, Ferraz, H, Fiala, O, Foroud, T, Friedman, A, Frigerio, R, Funayama, M, Gambardella, S, Garraux, G, Gatto, E, Genc, G, Giladi, N, Goldwurm, S, Gomez-Esteban, J, Gomez-Garre, P, Gorostidi, A, Grosset, D, Hanagasi, H, Hardy, J, Hassan, A, Hattori, N, Hauser, R, Hedera, P, Hentati, F, Hertz, J, Holton, J, Houlden, H, Hutz, M, Ikeuchi, T, Illarioshkin, S, Inca-Martinez, M, Infante, J, Jankovic, J, Jeon, B, Jesus, S, Jimenez-Del-Rio, M, Kaasinen, V, Kataoka, H, Kawakami, H, Kim, Y, Klivenyi, P, Koks, S, Konig, I, Kostic, V, Koziorowski, D, Kruger, R, Krygowska-Wajs, A, Kulisevsky, J, Lai, D, Lang, A, Ledoux, M, Lesage, S, Lim, S, Lin, C, Lohmann, K, Lopera, F, Lopez, G, Lu, C, Lynch, T, Machaczka, M, Madoev, H, Magalhaes, M, Majamaa, K, Maraganore, D, Marder, K, Markopoulou, K, Martikainen, M, Mata, I, Mazzetti, P, Mellick, G, Menendez-Gonzalez, M, Micheli, F, Mirelman, A, Mir, P, Morino, H, Morris, H, Munhoz, R, Naito, A, Olszewska, D, Ozelius, L, Padmanabhan, S, Paisan-Ruiz, C, Payami, H, Peluso, S, Petkovic, S, Petrucci, S, Pezzoli, G, Pimentel, M, Pirker, W, Pramstaller, P, Pulkes, T, Puschmann, A, Quattrone, A, Raggio, V, Ransmayr, G, Rieder, C, Riess, O, Rodriguez-Porcel, F, Rogaeva, E, Ross, O, Ruiz-Martinez, J, Sammler, E, San Luciano, M, Satake, W, Saunders-Pullman, R, Sazci, A, Scherzer, C, Schrag, A, Schumacher-Schuh, A, Sharma, M, Sidransky, E, Singleton, A, Petersen, M, Smolders, S, Spitz, M, Stefanis, L, Struhal, W, Sue, C, Swan, M, Swanberg, M, Taba, P, Taipa, R, Tan, M, Tan, A, Tan, E, Tang, B, Tayebi, N, Thaler, A, Thomas, A, Toda, T, Toft, M, Torres, L, Tumas, V, Valente, E, Van Broeckhoven, C, Vecsei, L, Velez-Pardo, C, Vidailhet, M, Warner, T, Williams-Gray, C, Winkelmann, J, Woitalla, D, Wood, N, Wszolek, Z, Wu, R, Wu, Y, Xie, T, Yoshino, H, Zhang, B, Zimprich, A, Vollstedt E. -J., Kasten M., Klein C., Aasly J., Adler C., Ahmad-Annuar A., Albanese A., Alcalay R. N., Al-Mubarak B., Alvarez V., Andree-Munoz B., Annesi G., Appel-Cresswell S., Arkadir D., Armasu S., Barber T. R., Bardien S., Barkhuizen M., Barrett M. J., Basak A. N., Beach T., Benitez B. A., Berg D., Bhatia K., Binkofski F., Blauwendraat C., Bonifati V., Borges V., Bozi M., Brice A., Brighina L., Brockmann K., Brucke T., Bruggemann N., Camacho M., Cardoso F., Belin A. C., Carr J., Chan P., Chang-Castello J., Chase B., Chen-Plotkin A., Ju Chung S., Cilia R., Clarimon J., Clark L., Cornejo-Olivas M., Corvol J. -C., Cosentino C., Cras P., Crosiers D., Damasio J., Das P., de Carvalho Aguiar P., De Michele G., De Rosa A., Dieguez E., Dorszewska J., Erer S., Ertan S., Farrer M., Fedotova E., Ferese R., Ferrarese C., Ferraz H., Fiala O., Foroud T., Friedman A., Frigerio R., Funayama M., Gambardella S., Garraux G., Gatto E. M., Genc G., Giladi N., Goldwurm S., Gomez-Esteban J. C., Gomez-Garre P., Gorostidi A., Grosset D., Hanagasi H., Hardy J., Hassan A., Hattori N., Hauser R. A., Hedera P., Hentati F., Hertz J. M., Holton J. L., Houlden H., Hutz M. H., Ikeuchi T., Illarioshkin S., Inca-Martinez M., Infante J., Jankovic J., Jeon B. S., Jesus S., Jimenez-Del-Rio M., Kaasinen V., Kataoka H., Kawakami H., Kim Y. J., Klivenyi P., Koks S., Konig I. R., Kostic V., Koziorowski D., Kruger R., Krygowska-Wajs A., Kulisevsky J., Lai D., Lang A., LeDoux M., Lesage S., Lim S. -Y., Lin C. -H., Lohmann K., Lopera F., Lopez G., Lu C. -S., Lynch T., Machaczka M., Madoev H., Magalhaes M., Majamaa K., Maraganore D., Marder K., Markopoulou K., Martikainen M. H., Mata I., Mazzetti P., Mellick G., Menendez-Gonzalez M., Micheli F., Mirelman A., Mir P., Morino H., Morris H., Munhoz R. P., Naito A., Olszewska D. A., Ozelius L. J., Padmanabhan S., Paisan-Ruiz C., Payami H., Peluso S., Petkovic S., Petrucci S., Pezzoli G., Pimentel M., Pirker W., Pramstaller P. P., Pulkes T., Puschmann A., Quattrone A., Raggio V., Ransmayr G., Rieder C., Riess O., Rodriguez-Porcel F., Rogaeva E., Ross O. A., Ruiz-Martinez J., Sammler E., San Luciano M., Satake W., Saunders-Pullman R., Sazci A., Scherzer C., Schrag A., Schumacher-Schuh A., Sharma M., Sidransky E., Singleton A. B., Petersen M. S., Smolders S., Spitz M., Stefanis L., Struhal W., Sue C. M., Swan M., Swanberg M., Taba P., Taipa R., Tan M., Tan A. H., Tan E. -K., Tang B., Tayebi N., Thaler A., Thomas A., Toda T., Toft M., Torres L., Tumas V., Valente E. M., Van Broeckhoven C., Vecsei L., Velez-Pardo C., Vidailhet M., Warner T. T., Williams-Gray C. H., Winkelmann J., Woitalla D., Wood N. W., Wszolek Z. K., Wu R. -M., Wu Y. -R., Xie T., Yoshino H., Zhang B., and Zimprich A.

Published
2019

12. Using global team science to identify genetic Parkinson's disease worldwide

Author

Vollstedt, E‐J, Kasten, M., Klein, C., Aasly, J., Adler, C., Ahmad‐Annuar, A., Albanese, A., Alcalay, R., Al‐Mubarak, B., Alvarez, V., Andree‐Muñoz, B., Annesi, G., Appel‐Cresswell, S., Arkadir, D., Armasu, S., Barber, T.R., Bardien, S., Barkhuizen, M., Barrett, M.J., BaŞak, A.N., Beach, T., Benitez, B.A., Berg, D., Bhatia, K., Binkofski, F., Blauwendraat, C., Bonifati, V., Borges, V., Bozi, M., Brice, A., Brighina, L., Brockmann, K., Brüggemann, N., Camacho, M., Cardoso, F., Belin, A.C., Carr, J., Chan, P., Chang‐Castello, J., Chase, B., Chen‐Plotkin, A., Chung, S.J., Cilia, R., Clarimon, J., Clark, L., Cornejo‐Olivas, M., Corvol, J‐C, Cosentino, C., Cras, P., Crosiers, D., Damásio, J., Das, P., Carvalho Aguiar, P., De Michele, G., De Rosa, A., Dieguez, E., Dorszewska, J., Erer, S., Ertan, S., Farrer, M., Fedotova, E., Ferese, R., Ferrarese, C., Ferraz, H., Fiala, O., Foroud, T., Friedman, A., Frigerio, R., Funayama, M., Gambardella, S., Garraux, G., Gatto, E.M., Genç, G., Goldwurm, S., Gomez‐Esteban, J.C., Gómez‐Garre, P., Gorostidi, A., Grosset, D., Hanagasi, H., Hardy, J., Hassan, A., Hattori, N., Hauser, R.A., Hedera, P., Hentati, F., Hertz, J.M., Holton, J.L., Houlden, H., Hutz, M.H., Ikeuchi, T., Illarioshkin, S., Inca‐Martinez, M., Infante, J., Jankovic, J., Jeon, B.S., Jesús, S., Jimenez‐Del‐Rio, M., Kataoka, H., Kawakami, H., Kim, Y.J., Klivényi, P., Kõks, S., König, I.R., KostiĆ, V., Koziorowski, D., Krüger, R., Krygowska‐Wajs, A., Kulisevsky, J., Lang, A., LeDoux, M., Lesage, S., Lim, S‐Y, Lin, C‐H, Lohmann, K., Lopera, F., Lopez, G., Lu, C‐S, Lynch, T., Machaczka, M., Madoev, H., Magalhães, M., Majamaa, K., Maraganore, D., Marder, K., Markopoulou, K., Martikainen, M.H., Mata, I., Mazzetti, P., Mellick, G., Menéndez‐González, M., Micheli, F., Mirelman, A., Mir, P., Morino, H., Morris, H., Munhoz, R.P., Naito, A., Olszewska, D.A., Ozelius, L.J., Padmanabhan, S., Paisán‐Ruiz, C., Payami, H., Peluso, S., Petkovic, S., Petrucci, S., Pezzoli, G., Pimentel, M., Pirker, W., Pramstaller, P.P., Pulkes, T., Puschmann, A., Quattrone, A., Raggio, V., Ransmayr, G., Rieder, C., Riess, O., Rodriguez‐Porcel, F., Rogaeva, E., Ross, O.A., Ruiz‐Martinez, J., Sammler, E., Luciano, M.S., Satake, W., Saunders‐Pullman, R., Sazci, A., Scherzer, C., Schrag, A., Schumacher‐Schuh, A., Sharma, M., Sidransky, E., Singleton, A.B., Petersen, M.S., Smolders, S., Spitz, M., Stefanis, L., Struhal, W., Sue, C., Swan, M., Swanberg, M., Taba, P., Taipa, R., Tan, M., Tan, A.H., Tan, E‐K, Tang, B., Tayebi, N., Thaler, A., Thomas, A., Toda, T., Toft, M., Torres, L., Tumas, V., Valente, E.M., Van Broeckhoven, C., Vecsei, L., Velez‐Pardo, C., Vidailhet, M., Warner, T.T., Williams‐Gray, C.H., Winkelmann, J., Woitalla, D., Wood, N.W., Wszolek, Z.K., Wu, R‐M, Wu, Y‐R, Xie, T., Yoshino, H., Zhang, B., Zimprich, A., Vollstedt, E‐J, Kasten, M., Klein, C., Aasly, J., Adler, C., Ahmad‐Annuar, A., Albanese, A., Alcalay, R., Al‐Mubarak, B., Alvarez, V., Andree‐Muñoz, B., Annesi, G., Appel‐Cresswell, S., Arkadir, D., Armasu, S., Barber, T.R., Bardien, S., Barkhuizen, M., Barrett, M.J., BaŞak, A.N., Beach, T., Benitez, B.A., Berg, D., Bhatia, K., Binkofski, F., Blauwendraat, C., Bonifati, V., Borges, V., Bozi, M., Brice, A., Brighina, L., Brockmann, K., Brüggemann, N., Camacho, M., Cardoso, F., Belin, A.C., Carr, J., Chan, P., Chang‐Castello, J., Chase, B., Chen‐Plotkin, A., Chung, S.J., Cilia, R., Clarimon, J., Clark, L., Cornejo‐Olivas, M., Corvol, J‐C, Cosentino, C., Cras, P., Crosiers, D., Damásio, J., Das, P., Carvalho Aguiar, P., De Michele, G., De Rosa, A., Dieguez, E., Dorszewska, J., Erer, S., Ertan, S., Farrer, M., Fedotova, E., Ferese, R., Ferrarese, C., Ferraz, H., Fiala, O., Foroud, T., Friedman, A., Frigerio, R., Funayama, M., Gambardella, S., Garraux, G., Gatto, E.M., Genç, G., Goldwurm, S., Gomez‐Esteban, J.C., Gómez‐Garre, P., Gorostidi, A., Grosset, D., Hanagasi, H., Hardy, J., Hassan, A., Hattori, N., Hauser, R.A., Hedera, P., Hentati, F., Hertz, J.M., Holton, J.L., Houlden, H., Hutz, M.H., Ikeuchi, T., Illarioshkin, S., Inca‐Martinez, M., Infante, J., Jankovic, J., Jeon, B.S., Jesús, S., Jimenez‐Del‐Rio, M., Kataoka, H., Kawakami, H., Kim, Y.J., Klivényi, P., Kõks, S., König, I.R., KostiĆ, V., Koziorowski, D., Krüger, R., Krygowska‐Wajs, A., Kulisevsky, J., Lang, A., LeDoux, M., Lesage, S., Lim, S‐Y, Lin, C‐H, Lohmann, K., Lopera, F., Lopez, G., Lu, C‐S, Lynch, T., Machaczka, M., Madoev, H., Magalhães, M., Majamaa, K., Maraganore, D., Marder, K., Markopoulou, K., Martikainen, M.H., Mata, I., Mazzetti, P., Mellick, G., Menéndez‐González, M., Micheli, F., Mirelman, A., Mir, P., Morino, H., Morris, H., Munhoz, R.P., Naito, A., Olszewska, D.A., Ozelius, L.J., Padmanabhan, S., Paisán‐Ruiz, C., Payami, H., Peluso, S., Petkovic, S., Petrucci, S., Pezzoli, G., Pimentel, M., Pirker, W., Pramstaller, P.P., Pulkes, T., Puschmann, A., Quattrone, A., Raggio, V., Ransmayr, G., Rieder, C., Riess, O., Rodriguez‐Porcel, F., Rogaeva, E., Ross, O.A., Ruiz‐Martinez, J., Sammler, E., Luciano, M.S., Satake, W., Saunders‐Pullman, R., Sazci, A., Scherzer, C., Schrag, A., Schumacher‐Schuh, A., Sharma, M., Sidransky, E., Singleton, A.B., Petersen, M.S., Smolders, S., Spitz, M., Stefanis, L., Struhal, W., Sue, C., Swan, M., Swanberg, M., Taba, P., Taipa, R., Tan, M., Tan, A.H., Tan, E‐K, Tang, B., Tayebi, N., Thaler, A., Thomas, A., Toda, T., Toft, M., Torres, L., Tumas, V., Valente, E.M., Van Broeckhoven, C., Vecsei, L., Velez‐Pardo, C., Vidailhet, M., Warner, T.T., Williams‐Gray, C.H., Winkelmann, J., Woitalla, D., Wood, N.W., Wszolek, Z.K., Wu, R‐M, Wu, Y‐R, Xie, T., Yoshino, H., Zhang, B., and Zimprich, A.

Abstract

Talks on rare diseases in the field of neurology often start with a statement like this: “About 80% of all rare diseases have a neurologic manifestation and about 80% of those are genetic in origin.” Although these numbers probably represent more of an estimate than well‐documented evidence, rapidly advancing and cost‐effective sequencing technologies have led to the quickly growing identification of patients with hereditary neurological diseases...

Published
2019

13. Using global team science to identify genetic parkinson's disease worldwide

Author

Vollstedt, E. -J., Kasten, M., Klein, C., Aasly, J., Adler, C., Ahmad-Annuar, A., Albanese, Alberto, Alcalay, R. N., Al-Mubarak, B., Alvarez, V., Andree-Munoz, B., Annesi, G., Appel-Cresswell, S., Arkadir, D., Armasu, S., Barber, T. R., Bardien, S., Barkhuizen, M., Barrett, M. J., Basak, A. N., Beach, T., Benitez, B. A., Berg, D., Bhatia, K., Binkofski, F., Blauwendraat, C., Bonifati, V., Borges, V., Bozi, M., Brice, A., Brighina, L., Brockmann, K., Brucke, T., Bruggemann, N., Camacho, M., Cardoso, F., Belin, A. C., Carr, J., Chan, P., Chang-Castello, J., Chase, B., Chen-Plotkin, A., Ju Chung, S., Cilia, R., Clarimon, J., Clark, L., Cornejo-Olivas, M., Corvol, J. -C., Cosentino, C., Cras, P., Crosiers, D., Damasio, J., Das, P., de Carvalho Aguiar, P., De Michele, G., De Rosa, A., Dieguez, E., Dorszewska, J., Erer, S., Ertan, S., Farrer, M., Fedotova, E., Ferese, R., Ferrarese, C., Ferraz, H., Fiala, O., Foroud, T., Friedman, A., Frigerio, R., Funayama, M., Gambardella, S., Garraux, G., Gatto, E. M., Genc, G., Giladi, N., Goldwurm, S., Gomez-Esteban, J. C., Gomez-Garre, P., Gorostidi, A., Grosset, D., Hanagasi, H., Hardy, J., Hassan, A., Hattori, N., Hauser, R. A., Hedera, P., Hentati, F., Hertz, J. M., Holton, J. L., Houlden, H., Hutz, M. H., Ikeuchi, T., Illarioshkin, S., Inca-Martinez, M., Infante, J., Jankovic, J., Jeon, B. S., Jesus, S., Jimenez-Del-Rio, M., Kaasinen, V., Kataoka, H., Kawakami, H., Kim, Y. J., Klivenyi, P., Koks, S., Konig, I. R., Kostic, V., Koziorowski, D., Kruger, R., Krygowska-Wajs, A., Kulisevsky, J., Lai, D., Lang, A., Ledoux, M., Lesage, S., Lim, S. -Y., Lin, C. -H., Lohmann, K., Lopera, F., Lopez, G., Lu, C. -S., Lynch, T., Machaczka, M., Madoev, H., Magalhaes, M., Majamaa, K., Maraganore, D., Marder, K., Markopoulou, K., Martikainen, M. H., Mata, I., Mazzetti, P., Mellick, G., Menendez-Gonzalez, M., Micheli, F., Mirelman, A., Mir, P., Morino, H., Morris, H., Munhoz, R. P., Naito, A., Olszewska, D. A., Ozelius, L. J., Padmanabhan, S., Paisan-Ruiz, C., Payami, H., Peluso, S., Petkovic, S., Petrucci, S., Pezzoli, G., Pimentel, M., Pirker, W., Pramstaller, P. P., Pulkes, T., Puschmann, A., Quattrone, A., Raggio, V., Ransmayr, G., Rieder, C., Riess, O., Rodriguez-Porcel, F., Rogaeva, E., Ross, O. A., Ruiz-Martinez, J., Sammler, E., San Luciano, M., Satake, W., Saunders-Pullman, R., Sazci, A., Scherzer, C., Schrag, A., Schumacher-Schuh, A., Sharma, M., Sidransky, E., Singleton, A. B., Petersen, M. S., Smolders, S., Spitz, M., Stefanis, L., Struhal, W., Sue, C. M., Swan, M., Swanberg, M., Taba, P., Taipa, R., Tan, M., Tan, A. H., Tan, E. -K., Tang, B., Tayebi, N., Thaler, A., Thomas, A., Toda, T., Toft, M., Torres, L., Tumas, V., Valente, E. M., Van Broeckhoven, C., Vecsei, L., Velez-Pardo, C., Vidailhet, M., Warner, T. T., Williams-Gray, C. H., Winkelmann, J., Woitalla, D., Wood, N. W., Wszolek, Z. K., Wu, R. -M., Wu, Y. -R., Xie, T., Yoshino, H., Zhang, B., Zimprich, A., Albanese A. (ORCID:0000-0002-5864-0006), Vollstedt, E. -J., Kasten, M., Klein, C., Aasly, J., Adler, C., Ahmad-Annuar, A., Albanese, Alberto, Alcalay, R. N., Al-Mubarak, B., Alvarez, V., Andree-Munoz, B., Annesi, G., Appel-Cresswell, S., Arkadir, D., Armasu, S., Barber, T. R., Bardien, S., Barkhuizen, M., Barrett, M. J., Basak, A. N., Beach, T., Benitez, B. A., Berg, D., Bhatia, K., Binkofski, F., Blauwendraat, C., Bonifati, V., Borges, V., Bozi, M., Brice, A., Brighina, L., Brockmann, K., Brucke, T., Bruggemann, N., Camacho, M., Cardoso, F., Belin, A. C., Carr, J., Chan, P., Chang-Castello, J., Chase, B., Chen-Plotkin, A., Ju Chung, S., Cilia, R., Clarimon, J., Clark, L., Cornejo-Olivas, M., Corvol, J. -C., Cosentino, C., Cras, P., Crosiers, D., Damasio, J., Das, P., de Carvalho Aguiar, P., De Michele, G., De Rosa, A., Dieguez, E., Dorszewska, J., Erer, S., Ertan, S., Farrer, M., Fedotova, E., Ferese, R., Ferrarese, C., Ferraz, H., Fiala, O., Foroud, T., Friedman, A., Frigerio, R., Funayama, M., Gambardella, S., Garraux, G., Gatto, E. M., Genc, G., Giladi, N., Goldwurm, S., Gomez-Esteban, J. C., Gomez-Garre, P., Gorostidi, A., Grosset, D., Hanagasi, H., Hardy, J., Hassan, A., Hattori, N., Hauser, R. A., Hedera, P., Hentati, F., Hertz, J. M., Holton, J. L., Houlden, H., Hutz, M. H., Ikeuchi, T., Illarioshkin, S., Inca-Martinez, M., Infante, J., Jankovic, J., Jeon, B. S., Jesus, S., Jimenez-Del-Rio, M., Kaasinen, V., Kataoka, H., Kawakami, H., Kim, Y. J., Klivenyi, P., Koks, S., Konig, I. R., Kostic, V., Koziorowski, D., Kruger, R., Krygowska-Wajs, A., Kulisevsky, J., Lai, D., Lang, A., Ledoux, M., Lesage, S., Lim, S. -Y., Lin, C. -H., Lohmann, K., Lopera, F., Lopez, G., Lu, C. -S., Lynch, T., Machaczka, M., Madoev, H., Magalhaes, M., Majamaa, K., Maraganore, D., Marder, K., Markopoulou, K., Martikainen, M. H., Mata, I., Mazzetti, P., Mellick, G., Menendez-Gonzalez, M., Micheli, F., Mirelman, A., Mir, P., Morino, H., Morris, H., Munhoz, R. P., Naito, A., Olszewska, D. A., Ozelius, L. J., Padmanabhan, S., Paisan-Ruiz, C., Payami, H., Peluso, S., Petkovic, S., Petrucci, S., Pezzoli, G., Pimentel, M., Pirker, W., Pramstaller, P. P., Pulkes, T., Puschmann, A., Quattrone, A., Raggio, V., Ransmayr, G., Rieder, C., Riess, O., Rodriguez-Porcel, F., Rogaeva, E., Ross, O. A., Ruiz-Martinez, J., Sammler, E., San Luciano, M., Satake, W., Saunders-Pullman, R., Sazci, A., Scherzer, C., Schrag, A., Schumacher-Schuh, A., Sharma, M., Sidransky, E., Singleton, A. B., Petersen, M. S., Smolders, S., Spitz, M., Stefanis, L., Struhal, W., Sue, C. M., Swan, M., Swanberg, M., Taba, P., Taipa, R., Tan, M., Tan, A. H., Tan, E. -K., Tang, B., Tayebi, N., Thaler, A., Thomas, A., Toda, T., Toft, M., Torres, L., Tumas, V., Valente, E. M., Van Broeckhoven, C., Vecsei, L., Velez-Pardo, C., Vidailhet, M., Warner, T. T., Williams-Gray, C. H., Winkelmann, J., Woitalla, D., Wood, N. W., Wszolek, Z. K., Wu, R. -M., Wu, Y. -R., Xie, T., Yoshino, H., Zhang, B., Zimprich, A., and Albanese A. (ORCID:0000-0002-5864-0006)

Abstract

Talks on rare diseases in the field of neurology often start with a statement like this: “About 80% of all rare diseases have a neurologic manifestation and about 80% of those are genetic in origin.” Although these numbers probably represent more of an estimate than well-documented evidence, rapidly advancing and cost-effective sequencing technologies have led to the quickly growing identification of patients with hereditary neurological diseases. Although the importance of genetics for diagnosis and genetic counseling is undisputed, the recent development of first genetargeted therapies entering clinical trial1,2 is adding an important new layer to the (re-)consideration of genetic testing in neurology. However, establishing accurate genotype– phenotype and genotype–treatment relationships requires large sample sizes. Systematic reviews can serve as instruments to combine information from several small samples, but unfortunately, this is often complicated by inconsistent and incomplete reporting of clinical and genetic data across studies. Thus, large multicenter approaches are necessary to systematically and uniformly characterize patients with genetic neurologic conditions and to eventually establish sizable clinical trial-ready cohorts.

Published
2019

15. P.023 The Pain in Dystonia Scale (PIDS): development and validation

Author

Bruno, V, Achen, B, Morgante, F, Erro, R, Fox, SH, Edwards, MJ, Schrag, A, Stamelou, M, Appel-Cresswell, S, Defazio, G, Ray-Chaudhuri, K, Pirio Richardson, S, Jinnah, HA, and Martino, D

Abstract

Background: Pain in a common symptom in adult-onset idiopathic dystonia (AOID). An appropriate tool to understand this symptom is needed to improve AOID patients’ care. We developed a rating instrument for pain in AOID and validated it in cervical dystonia (CD). Methods: Development and validation of the Pain in Dystonia Scale (PIDS) in three phases: 1. International experts and participants generated and evaluated the preliminary items for content validity; 2. The PIDS was drafted and revised, followed by cognitive interviews to ensure suitability for self-administration; and 3. the clinimetric properties of the final PIDS were assessed in 85 participants. Results: PIDS evaluates pain severity (by body part), functional impact and external modulating factors. It showed high test-retest reliability the total score (0.9, p<0.001), intraclass correlation coefficients higher than 0.7 for all items and high internal consistency (Cronbach’s alpha 0.9). Convergent validity analysis revealed a strong correlation between the PIDS severity score and the TWSTRS pain subscale (0.8, p<0.001), the brief pain inventory short form (0.7, p<0.001) and impact of pain on daily functioning (0.7, p<0.001). Conclusions: The PIDS is the first specific questionnaire developed to evaluate pain in patients with AOID with high-level clinimetric properties in people with CD.

Published
2023
Full Text
View/download PDF

16. On the extraction of disjunctive landmarks from planning problems via symmetry reduction

Author

Gregory, P., Cresswell, S., Long, D., Porteous, J., Harvey, W., and Kiziltan, Z.

Subjects
QA75, ZA4450
Abstract

The exploitation of symmetry in combinatorial search has typically focused on using information about symmetries to control search. This work describes an approach that exploits symmetry to get more detailed domain-analysis rather than as a method of search control.

Published
2004

17. Adapting LPGP to plan with deadlines

Author

Coddington, A., Cresswell, S., Lopez de Mantaras, R., and Saitta, L.

Subjects
QA75
Abstract

This paper describes two approaches that enable the AI Planner LPGP to reason about domains with exogenous events and goals with duration: the first investigates how such domains may be encoded using the planning domain definition language PDDL2.1 level 3, while the second involves directly modifying LPGP. Both approaches have been tested in a number of domains and conclusions are drawn about the relative merits of the two approaches.

Published
2004

18. The Use of Classification in Automated Mathematical Concept Formation

Author

Colton, S., Cresswell, S., and Bundy, Alan

Abstract

Concept formation programs aim to produce a high yield of concepts which are considered interesting. One intelligent way to do this is to base a new concept on one or more concepts which are already known to be interesting. This requires a concrete notion of the ‘interestingness’ of a particular concept. Restricting the concepts formed to mathematical definitions in finite group theory, we derive three measures of the interestingness of a concept. These measures are based on how much the concept improves a classification of finite groups.

Published
1997

22. Precise terrestrial time: A means for improved ballistic missile guidance analysis

Author

Ehrsam, E. E, Cresswell, S. A, Mckelvey, G. R, and Matthews, F. L

Subjects
Physics (General)
Abstract

An approach developed to improve the ground instrumentation time tagging accuracy and adapted to support the Minuteman ICBM program is desired. The Timing Insertion Unit (TIU) technique produces a telemetry data time tagging resolution of one tenth of a microsecond, with a relative intersite accuracy after corrections and velocity data (range, azimuth, elevation and range rate) also used in missile guidance system analysis can be correlated to within ten microseconds of the telemetry guidance data. This requires precise timing synchronization between the metric and telemetry instrumentation sites. The timing synchronization can be achieved by using the radar automatic phasing system time correlation methods. Other time correlation techniques such as Television (TV) Line-10 and the Geostationary Operational Environmental Satellites (GEOS) terrestial timing receivers are also considered.

Published
1978

38. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Author

Vollstedt, Eva-Juliane, Schaake, Susen, Lohmann, Katja, Padmanabhan, Shalini, Brice, Alexis, Lesage, Suzanne, Tesson, Christelle, Vidailhet, Marie, Wurster, Isabel, Hentati, Faycel, Mirelman, Anat, Giladi, Nir, Marder, Karen, Waters, Cheryl, Fahn, Stanley, Kasten, Meike, Brüggemann, Norbert, Borsche, Max, Foroud, Tatiana, Tolosa, Eduardo, Garrido, Alicia, Annesi, Grazia, Gagliardi, Monica, Bozi, Maria, Stefanis, Leonidas, Ferreira, Joaquim J, Correia Guedes, Leonor, Avenali, Micol, Petrucci, Simona, Clark, Lorraine, Fedotova, Ekaterina Y, Abramycheva, Natalya Y, Alvarez, Victoria, Menéndez-González, Manuel, Jesús Maestre, Silvia, Gómez-Garre, Pilar, Mir, Pablo, Belin, Andrea Carmine, Ran, Caroline, Lin, Chin-Hsien, Kuo, Ming-Che, Crosiers, David, Wszolek, Zbigniew K, Ross, Owen A, Jankovic, Joseph, Nishioka, Kenya, Funayama, Manabu, Clarimon, Jordi, Williams-Gray, Caroline H, Camacho, Marta, Cornejo-Olivas, Mario, Torres-Ramirez, Luis, Wu, Yih-Ru, Lee-Chen, Guey-Jen, Morgadinho, Ana, Pulkes, Teeratorn, Termsarasab, Pichet, Berg, Daniela, Kuhlenbäumer, Gregor, Kühn, Andrea A, Borngräber, Friederike, De Michele, Giuseppe, De Rosa, Anna, Zimprich, Alexander, Puschmann, Andreas, Mellick, George D, Dorszewska, Jolanta, Carr, Jonathan, Ferese, Rosangela, Gambardella, Stefano, Chase, Bruce, Markopoulou, Katerina, Satake, Wataru, Toda, Tatsushi, Rossi, Malco, Merello, Marcelo, Lynch, Timothy, Olszewska, Diana A, Lim, Shen-Yang, Ahmad-Annuar, Azlina, Tan, Ai Huey, Al-Mubarak, Bashayer, Hanagasi, Hasmet, Koziorowski, Dariusz, Ertan, Sibel, Genç, Gençer, De Carvalho Aguiar, Patricia, Barkhuizen, Melinda, Pimentel, Marcia MG, Saunders-Pullman, Rachel, Van De Warrenburg, Bart, Bressman, Susan, Toft, Mathias, Appel-Cresswell, Silke, Lang, Anthony E, Skorvanek, Matej, Boon, Agnita JW, Krüger, Rejko, Sammler, Esther M, Tumas, Vitor, Zhang, Bao-Rong, Garraux, Gaetan, Chung, Sun Ju, Kim, Yun Joong, Winkelmann, Juliane, Sue, Carolyn M, Tan, Eng-King, Damásio, Joana, Klivényi, Péter, Kostic, Vladimir S, Arkadir, David, Martikainen, Mika, Borges, Vanderci, Hertz, Jens Michael, Brighina, Laura, Spitz, Mariana, Suchowersky, Oksana, Riess, Olaf, Das, Parimal, Mollenhauer, Brit, Gatto, Emilia M, Petersen, Maria Skaalum, Hattori, Nobutaka, Wu, Ruey-Meei, Illarioshkin, Sergey N, Valente, Enza Maria, Aasly, Jan O, Aasly, Anna, Alcalay, Roy N, Thaler, Avner, Farrer, Matthew J, Brockmann, Kathrin, Corvol, Jean-Christophe, Klein, Christine, MJFF Global Genetic Parkinson's Disease Study Group, Vollstedt, Ej, Schaake, S, Lohmann, K, Padmanabhan, S, Brice, A, Lesage, S, Tesson, C, Vidailhet, M, Wurster, I, Hentati, F, Mirelman, A, Giladi, N, Marder, K, Waters, C, Fahn, S, Kasten, M, Brüggemann, N, Borsche, M, Foroud, T, Tolosa, E, Garrido, A, Annesi, G, Gagliardi, M, Bozi, M, Stefanis, L, Ferreira, Jj, Correia Guedes, L, Avenali, M, Petrucci, S, Clark, L, Fedotova, Ey, Abramycheva, Ny, Alvarez, V, Menéndez-González, M, Jesús Maestre, S, Gómez-Garre, P, Mir, P, Belin, Ac, Ran, C, Lin, Ch, Kuo, Mc, Crosiers, D, Wszolek, Zk, Ross, Oa, Jankovic, J, Nishioka, K, Funayama, M, Clarimon, J, Williams-Gray, Ch, Camacho, M, Cornejo-Olivas, M, Torres-Ramirez, L, Wu, Yr, Lee-Chen, Gj, Morgadinho, A, Pulkes, T, Termsarasab, P, Berg, D, Kuhlenbäumer, G, Kühn, Aa, Borngräber, F, de Michele, G, De Rosa, A, Zimprich, A, Puschmann, A, Mellick, Gd, Dorszewska, J, Carr, J, Ferese, R, Gambardella, S, Chase, B, Markopoulou, K, Satake, W, Toda, T, Rossi, M, Merello, M, Lynch, T, Olszewska, Da, Lim, Sy, Ahmad-Annuar, A, Tan, Ah, Al-Mubarak, B, Hanagasi, H, Koziorowski, D, Ertan, S, Genç, G, de Carvalho Aguiar, P, Barkhuizen, M, Pimentel, Mmg, Saunders-Pullman, R, van de Warrenburg, B, Bressman, S, Toft, M, Appel-Cresswell, S, Lang, Ae, Skorvanek, M, Boon, Ajw, Krüger, R, Sammler, Em, Tu, Repositório da Universidade de Lisboa, Clinical Genetics, Neurology, Internal Medicine, Aasly, Anna, Aasly, Jan O, Abramycheva, Natalya Y, Ahmad-Annuar, Azlina, Albanese, Alberto, Alcalay, Roy N, Aldakheel, Amaal, Alkhairallah, Thamer, Al-Mubarak, Bashayer, Al-Tassan, Nada, Alvarez, Victoria, Amami, Paolo, Annesi, Grazia, Appel-Cresswell, Silke, Leite, Marco Antonio Araujo, Arkadir, David, Avenali, Micol, Ferraz, Henrique Ballalai, Bardien, Soraya, Barkhuizen, Melinda, Barrett, Matthew J, Başak, A Nazlı, Berg, Daniela, Bilgic, Basar, Bloem, Bastiaan R, Bonifati, Vincenzo, Boon, Agnita J W, Borges, Vanderci, Borngräber, Friederike, Borsche, Max, Bozi, Maria, Bressman, Susan, Brice, Alexis, Brighina, Laura, Brockmann, Kathrin, Brüggemann, Norbert, Camacho, Marta, Belin, Andrea Carmine, Carr, Jonathan, Cesarini, Martin Emiliano, Cornejo-Olivas, Mario, Chase, Bruce, Chung, Sun Ju, Guedes, Leonor Correia, Clarimon, Jordi, Clark, Lorraine, Corvol, Jean-Christophe, Crosiers, David, Das, Parimal, de Carvalho Aguiar, Patricia, Damásio, Joana, de Michele, Giuseppe, De Rosa, Anna, Dieguez, Elena, Dorszewska, Jolanta, Ertan, Sibel, Fahn, Stanley, Farrer, Matthew J, Fedotova, Ekaterina Y, Ferese, Rosangela, Ferreira, Joaquim J, Foroud, Tatiana, Funayama, Manabu, Fung, Victor S C, Gagliardi, Monica, Gambardella, Stefano, Garraux, Gaetan, Garrido, Alicia, Gatto, Emilia M, Genç, Gençer, Giladi, Nir, Gómez-Garre, Pilar, Hanagasi, Hasmet, Hattori, Nobutaka, Hentati, Faycel, Hertz, Jens Michael, Illarioshkin, Sergey N, Jankovic, Joseph, Januario, Cristina, Maestre, Silvia Jesús, Kaasinen, Valtteri, Kasten, Meike, Kataoka, Hiroshi, Kievit, Anneke A, Kim, Yun Joong, Klein, Christine, Klivényi, Péter, Kostic, Vladimir S, Koziorowski, Dariusz, Krüger, Rejko, Kühn, Andrea, Kuhlenbäumer, Gregor, Kuo, Ming-Che, Lang, Anthony E, Lee-Chen, Guey-Jen, Lesage, Suzanne, Lim, Jia Lun, Lim, Shen-Yang, Lin, Chin-Hsien, Lohmann, Katja, Lynch, Timothy, Marder, Karen, Markopoulou, Katerina, Martikainen, Mika, May, Patrick, McCarthy, Allan, Mellick, George D, Menéndez-González, Manuel, Merello, Marcelo, Mir, Pablo, Mirelman, Anat, Mollenhauer, Brit, Briceno, Hugo Morales, Morgadinho, Ana, Morris, Huw, Mosejova, Alexandra, Nishioka, Kenya, Çakmak, Özgür Öztop, Olszewska, Diana A, Orr-Urtreger, Avi, Pachchek, Sinthuja, Padmanabhan, Shalini, Periñán, Maria Teresa, Petrucci, Simona, Pimentel, Marcia M G, Procopio, Radha, Pulkes, Teeratorn, Puschmann, Andreas, Ran, Caroline, Riess, Olaf, Ross, Owen A, Rossi, Malco, Ruiz-Martinez, Javier, Sammler, Esther M, Pereira, João Santos, Satake, Wataru, Saunders-Pullman, Rachel, Schaake, Susen, Petersen, Maria Skaalum, Skorvanek, Matej, Stefanis, Leonidas, Soto-Beasley, Alexandra I, Sousa, Mário, Spitz, Mariana, Suchowersky, Oksana, Sue, Carolyn M, Tan, Ai Huey, Tan, Eng-King, Thaler, Avner, Tepgeç, Fatih, Termsarasab, Pichet, Tesson, Christelle, Toda, Tatsushi, Toft, Mathias, Tolosa, Eduardo, Torres-Ramirez, Luis, Tumas, Vitor, Uyguner, Oya, Valente, Enza Maria, van de Warrenburg, Bart, Vidailhet, Marie, Vollstedt, Eva-Juliane, Walton, Ronald L, Waters, Cheryl, Williams-Gray, Caroline H, Winkelmann, Juliane, Wu, Yih-Ru, Wurster, Isabel, Wszolek, Zbigniew K, Wu, Ruey-Meei, Zhang, Bao-Rong, Zimprich, Alexander, Vollstedt, Eva-Juliane [0000-0002-6898-9201], Lohmann, Katja [0000-0002-5121-1460], Mirelman, Anat [0000-0002-1520-2292], Brüggemann, Norbert [0000-0001-5969-6899], Borsche, Max [0000-0002-9651-5986], Tolosa, Eduardo [0000-0002-3781-0854], Ferreira, Joaquim J [0000-0003-3950-5113], Alvarez, Victoria [0000-0002-1916-2523], Mir, Pablo [0000-0003-1656-302X], Kuo, Ming-Che [0000-0003-3688-0225], Ross, Owen A [0000-0003-4813-756X], Nishioka, Kenya [0000-0001-8607-9757], Williams-Gray, Caroline H [0000-0002-2648-9743], Camacho, Marta [0000-0002-1490-5703], Cornejo-Olivas, Mario [0000-0001-6313-5680], Wu, Yih-Ru [0000-0003-1191-2542], Termsarasab, Pichet [0000-0002-3260-3119], Borngräber, Friederike [0000-0001-9650-6820], Zimprich, Alexander [0000-0002-1668-5177], Gambardella, Stefano [0000-0002-3727-4502], Chase, Bruce [0000-0001-5491-7242], Olszewska, Diana A [0000-0002-1814-8834], Tan, Ai Huey [0000-0002-2979-3839], Barkhuizen, Melinda [0000-0002-9952-7085], Appel-Cresswell, Silke [0000-0002-5986-1468], Skorvanek, Matej [0000-0001-5497-8715], Sammler, Esther M [0000-0003-3218-7116], Zhang, Bao-Rong [0000-0002-8099-7407], Chung, Sun Ju [0000-0003-4118-8233], Apollo - University of Cambridge Repository, and MJFF Global Genetic Parkinson's Disease Study Group

Subjects
parkinson's disease, monogenic pd, monogenic PD, Parkinson's disease, Monogenic PD, Parkinson Disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], ddc, Neurology, genetics [Parkinson Disease], Mutation, Humans, Human medicine, ddc:610, Neurology (clinical), Research Article, Research Articles
Abstract

© 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited., Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objective: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. Methods: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed. Results: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. Conclusions: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene-targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society., Michael J. Fox Foundation for Parkinson's Research. Grant Number: ID 15015.02. NIHR Cambridge Biomedical Research Centre. Grant Number: BRC-1215-20014

Published
2023
Full Text
View/download PDF

39. Development, dissemination and community response towards the first community notice regarding misrepresented illicit anabolic-androgenic steroids in circulation in Australia.

Author

Piatkowski T, Volpe I, Brien R, Coomber R, Barratt M, Kill E, Davey G, Francis C, Cresswell S, White A, Harding M, Blakey K, Reeve S, Walters B, Ferris J, and Puljević C

Subjects
Humans, Australia, Androgens adverse effects, Harm Reduction, Male, Female, Anabolic Agents, Illicit Drugs, Social Media
Abstract

Introduction: Drug alerts aimed at both people who use drugs and health workers help to prevent acute harms from unpredictable illicit drug markets and by equipping health workers to handle unusual drug events and share vital information with service users. However, there has never been an alert produced for anabolic-androgenic steroids (AAS), an important class of illicit drugs. We report on the development, implementation and community receptivity of the first-ever AAS community drug alert., Methods: Based on findings from samples collected during the first month of an AAS checking trial conducted by drug checking service CheQpoint, we identified contamination in two oxandrolone samples, which prompted issuing of the first-ever AAS community notice. Drawing on digital ethnographic techniques, we collected and analysed social media comments on the notice to assess AAS community perceptions and the broader impact of this harm reduction initiative., Results: The Instagram post by CheQpoint reached 1376 users, with 3429 impressions and 87 interactions. Community feedback indicated receptivity to the notice, with several people in the community recognising the prevalence of AAS adulteration. Responses highlighted the need for more thorough testing and indication of sample content, given the perception of a growing number of new people using AAS., Discussion and Conclusions: This study, the first to describe a community notice for illicit market AAS, reveals a strong demand for harm reduction interventions. We call for the urgent expansion of drug-checking services to provision for AAS and, thus, provide equitable health support to address systemic gaps for this group., (© 2025 The Author(s). Drug and Alcohol Review published by John Wiley & Sons Australia, Ltd on behalf of Australasian Professional Society on Alcohol and other Drugs.)

Published
2025
Full Text
View/download PDF

40. The world's first anabolic-androgenic steroid testing trial: A two-phase pilot combining chemical analysis, results dissemination and community feedback.

Author

Piatkowski T, Coomber R, Francis C, Kill E, Davey G, Cresswell S, White A, Harding M, Blakey K, Reeve S, Walters B, Puljevic C, Ferris J, and Barratt M

Abstract

Background and Aims: The clandestine production and distribution of anabolic-androgenic steroids (AAS) poses health risks due to the uncertainty of their contents. This study aimed to test the chemical content of AAS samples and provide aggregate results back to the community, exploring how these results influenced usage decisions and risk management., Design: A mixed-methods approach was used, combining chemical analysis of AAS samples with qualitative interviews. Participants submitted samples for testing, and the results were later shared with them. Semi-structured interviews explored participants' perceptions of AAS risks and the impact of testing results on their behaviour., Setting: The study was conducted at CheQpoint drug checking service in Brisbane, Australia., Participants: Thirty-two samples were submitted for testing between 19 April and 7 June 2024, with 23 samples analysed. A total of 25 active AAS users participated in interviews., Measurements: Chemical analyses identified substances present and assessed active ingredient concentrations. Qualitative interviews gathered participants' perceptions, and these data were analysed through iterative categorisation, guided by the Health Belief Model., Findings: Chemical analysis identified that 13% of samples contained substances different from what was expected. Concentrations of active ingredients were close to expected levels [e.g. testosterone propionate at 96.2 mg/mL (range = 91.39-101.01 mg/mL)]. Interviews identified four key theme categories. Participants sought testing primarily for substance verification, expressing concerns about contamination and dosage. Barriers to testing included limited access and fear of disclosure. While testing was seen as a valuable harm reduction tool, gaps in health guidance and follow-up support were identified as areas for improvement., Conclusions: Thirteen percent of 23 anabolic-androgenic steroid (AAS) samples analysed contained substances different from what was expected. Interviews with active AAS users highlighted the need for reliable information, accessible testing services and tailored health approaches for AAS use., (© 2025 The Author(s). Addiction published by John Wiley & Sons Ltd on behalf of Society for the Study of Addiction.)

Published
2025
Full Text
View/download PDF

41. Sex and gender differences in the molecular etiology of Parkinson's disease: considerations for study design and data analysis.

Author

Schaffner SL, Tosefsky KN, Inskter AM, Appel-Cresswell S, and Schulze-Hentrich JM

Subjects
Humans, Research Design, Female, Male, Data Analysis, Animals, Parkinson Disease genetics, Parkinson Disease etiology, Parkinson Disease epidemiology, Sex Characteristics
Abstract

Parkinson's disease (PD) is more prevalent in men than women, and presents with different clinical features in each sex. Despite widespread recognition of these differences, females are under-represented in clinical and experimental studies of PD, and much remains to be elucidated regarding the biological underpinnings of sex differences in PD. In this review, we summarize known contributors to sex differences in PD etiology across the life course, with a focus on neurological development and gene regulation. Sex differences that are established at conception and heightened during adolescence and midlife may partially embed future PD risk, due to the complex interactions between gonadal hormones, gene regulation, lifestyle factors, and aging. While the neuroprotective properties of estrogen are strongly implicated in reduced prevalence of PD in women, interactions with genotype and gender-biased lifestyle factors are incompletely understood. Consideration of sex and gender-related factors in study design, data analysis, and interpretation have the power to expedite our knowledge of the etiology of PD in men and in women, and to inform prevention and therapeutic strategies tailored to each sex., Competing Interests: Declarations. Ethics approval and consent to participate: Not applicable. Consent for publication: Not applicable. Competing interests: The authors declare no competing interests., (© 2025. The Author(s).)

Published
2025
Full Text
View/download PDF

42. Effects of Government Mistrust and Group-Based Medical Mistrust on COVID-19 Vaccine Hesitancy Among a Sample of African Americans.

Author

Manning M, Dailey R, Levy P, Towner E, Cresswell S, and Thompson HS

Subjects
Humans, Male, Female, Adult, Middle Aged, Michigan, Health Knowledge, Attitudes, Practice ethnology, Young Adult, Government, Aged, Patient Acceptance of Health Care ethnology, Patient Acceptance of Health Care psychology, White, Black or African American psychology, Trust, COVID-19 Vaccines, Vaccination Hesitancy psychology, COVID-19 prevention & control, COVID-19 ethnology
Abstract

Background: Despite the demonstrated efficacy of coronavirus disease (COVID-19) vaccines, higher rates of vaccine hesitancy among African Americans remain concerning. As determinants of vaccine hesitancy, the simultaneous roles of government mistrust and group-based medical mistrust have not been examined via from a cognitive information perspective among African Americans., Purpose: We examined the direct and indirect effects of government mistrust and group-based medical mistrust on COVID-19 vaccine hesitancy in a sample of African Americans., Methods: We obtained data from 382 African Americans in South-East Michigan via an online survey. We assessed demographic variables, government mistrust, group-based medical mistrust, COVID risk and COVID worry, and positive and negative beliefs regarding the COVID-19 vaccine (i.e., vaccine pros and cons), and vaccine hesitancy. We examined our hypotheses with path analyses., Results: Results indicated significant direct effects of government mistrust on vaccine hesitancy; however, despite a significant correlation, there was no direct effect of group-based medical mistrust on vaccine hesitancy. The effect of group-based medical mistrust was fully mediated by both vaccine pros and cons, whereas the effect of government mistrust was partially mediated by vaccine pros. COVID risk and COVID worry did not mediate the effects of mistrust to vaccine hesitancy., Conclusion: Negative effects of group-based medical mistrust on COVID-19 vaccine hesitancy among African Americans may be amenable to interventions that focus on beliefs about the vaccine rather than beliefs about vulnerability to the virus. However, given its direct effect, it may be necessary to focus directly on government mistrust to diminish its effects on COVID-19 vaccine hesitancy., (© Society of Behavioral Medicine 2024. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)

Published
2025
Full Text
View/download PDF

43. Rare Spinocerebellar Ataxia Types in Canada: A Case Series and Review of the Literature.

Author

Alshimemeri S, Alsaghan L, Alsamh DA, Zhou L, Furtado S, Kraft S, Bruno V, Appel-Cresswell S, Duquette A, Brais B, Suchowersky O, Slow E, and Munhoz RP

Abstract

Background: There is limited information on rare spinocerebellar ataxia (SCA) variants, particularly in the Canadian population. This study aimed to describe the demographic and clinical features of uncommon SCA subtypes in Canada and compare them with international data., Methods: We conducted a case series and literature review of adult patients with rare SCA subtypes, including SCA5, SCA7, SCA12, SCA14, SCA15, SCA28, SCA34, SCA35 and SCA36. Data were collected from medical centers in Ontario, Alberta and Quebec between January 2000 and February 2021., Results: We analyzed 25 patients with rare SCA subtypes, with onset ages ranging from birth to 67 years. Infantile and juvenile-onset cases were observed in SCA5, SCA7, SCA14 and SCA34. Most patients presented with gait ataxia, with no significant differences across groups. Additional common features included saccadic abnormalities (22 of 25), dysarthria (19 of 25) and nystagmus (12 of 22, except in SCA7). Less common findings included dystonia (8 of 25), cognitive impairment (7 of 25), tremor (9 of 25) and parkinsonism (3 of 25)., Conclusion: Our study highlights the heterogeneity of rare SCA subtypes in Canada. Ongoing longitudinal analysis will improve the understanding, management and screening of these disorders.

Published
2024
Full Text
View/download PDF

44. External Factors Modulating Pain and Pain-Related Functional Impairment in Cervical Dystonia.

Author

Martino D, Achen BMC, Morgante F, Erro R, Fox SH, Edwards MJ, Schrag A, Stamelou M, Appel-Cresswell S, Defazio G, Ray-Chaudhuri K, Poplawska-Domaszewicz K, Richardson SP, Jinnah HA, and Bruno VA

Subjects
Humans, Female, Male, Middle Aged, Adult, Cross-Sectional Studies, Aged, Pain Measurement methods, Severity of Illness Index, Surveys and Questionnaires, Torticollis physiopathology, Torticollis psychology, Torticollis complications, Torticollis epidemiology, Quality of Life psychology, Pain epidemiology, Pain physiopathology, Pain psychology
Abstract

Background: Little is known about factors modulating pain and pain-related functional impairment in isolated cervical dystonia (CD)., Objective: The aim was to assess the prevalence and interrelationship between pain-modulating factors and pain-related determinants of functional impairment and quality of life in CD., Methods: We analyzed pain-aggravating and pain-relieving external factors, the degree of pain-related functional impact on routine activities, and the relationship between these and pain severity, using cross-sectional data collected using the Pain in Dystonia Scale (PIDS) from 85 participants with CD. Pairwise correlation analyses and age- and sex-adjusted linear regression models estimated the relationship between pain-modulating factors and pain severity, and the impact of pain severity, dystonia severity, and psychiatric symptoms on pain-related functional impairment and disease-specific quality of life (measured using the Craniocervical Dystonia Questionnaire-24)., Results: Stress and prolonged fixed position were the most frequent and impacting pain triggers, with women reporting larger impact. The average impact of pain-relieving factors was lower than that of pain triggers. Physical exercise and social gatherings were the most impacted activities by pain in CD. The intensity of external modulating factors was a predictor of pain severity. Severity of pain, CD, and psychiatric symptoms independently predicted pain-related functional impairment, whereas quality of life was predicted by pain severity, pain-related functional impairment, and psychiatric symptom severity, but not dystonia severity., Conclusion: The PIDS provides insight into external modulation and functional impact of pain in CD. The pattern of external modulation of pain in CD is in line with a multifactorial modulation and complex physiology., (© 2024 The Author(s). Movement Disorders Clinical Practice published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)

Published
2024
Full Text
View/download PDF

45. Functional hearing impairment common in Parkinson's disease: Insights from a pilot study.

Author

Jose M, Nene D, Choi MWY, Yu AC, Small J, Mirian M, Jenstad L, and Appel-Cresswell S

Subjects
Humans, Male, Female, Aged, Pilot Projects, Middle Aged, Audiometry, Pure-Tone, Speech Perception physiology, Parkinson Disease complications, Parkinson Disease physiopathology, Parkinson Disease psychology, Hearing Loss etiology, Hearing Loss physiopathology, Quality of Life
Abstract

Introduction: Hearing impairments in Parkinson's Disease (PD) have received limited attention in the past, possibly because PD patients often report no perceived hearing disability, yet negative consequences of hearing impairment might aggravate communication difficulties and social withdrawal., Objective: Our aim was to investigate functional hearing (speech in noise recognition) in PD and evaluate its relationship to neuropsychiatric symptoms, cognition and quality of life., Methods: Participants with PD were recruited in a tertiary movement disorder clinic. Demographic, audiological, neuropsychiatric and quality of life data were collected. Participants underwent pure tone audiometry (PTA) and Hearing in Noise test (HINT) as a part of their audiological evaluation., Results: A total of 29 participants (mean age: 65.8±8.3 years, M:F= 1.6:1, mean disease duration 5.2 ± 4.0 years) completed the study. All assessments were done in the ON state. 19/29 (65.5 %) participants had normal tone audiometry for age; functional hearing loss, however, was present in 17/29 (58.6 %) according to the HINT. 65 % (11/17) of the affected participants had a disease duration of <4 years. The majority (72.4 %) with poor functional hearing did not perceive any hearing impairment. Hearing deficits did not correlate with non-motor symptoms (NMS), including cognition or other quality of life measures., Conclusions: Functional hearing loss is common in PD, often presents early in the disease and the majority of PD patients are unaware of their functional hearing loss. Its potential impact on cognition, communication and quality of life requires further investigation and tailored treatment., Competing Interests: Declaration of Competing Interest None, (Copyright © 2024. Published by Elsevier B.V.)

Published
2024
Full Text
View/download PDF

46. Metagenomic Analysis Reveals Large-Scale Disruptions of the Gut Microbiome in Parkinson's Disease.

Author

Metcalfe-Roach A, Cirstea MS, Yu AC, Ramay HR, Coker O, Boroomand S, Kharazyan F, Martino D, Sycuro LK, Appel-Cresswell S, and Finlay BB

Subjects
Humans, Male, Female, Aged, Middle Aged, Disease Progression, Parkinson Disease microbiology, Gastrointestinal Microbiome genetics, Gastrointestinal Microbiome physiology, Metagenomics methods, Feces microbiology
Abstract

Background: Parkinson's disease (PD) has been consistently linked to alterations within the gut microbiome., Objective: Our goal was to identify microbial features associated with PD incidence and progression., Methods: Metagenomic sequencing was used to characterize taxonomic and functional changes to the PD microbiome and to explore their relation to bacterial metabolites and disease progression. Motor and non-motor symptoms were tracked using Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) and levodopa equivalent dose across ≤5 yearly study visits. Stool samples were collected at baseline for metagenomic sequencing (176 PD, 100 controls)., Results: PD-derived stool samples had reduced intermicrobial connectivity and seven differentially abundant species compared to controls. A suite of bacterial functions differed between PD and controls, including depletion of carbohydrate degradation pathways and enrichment of ribosomal genes. Faecalibacterium prausnitzii-specific reads contributed significantly to more than half of all differentially abundant functional terms. A subset of disease-associated functional terms correlated with faster progression of MDS-UPDRS part IV and separated those with slow and fast progression with moderate accuracy within a random forest model (area under curve = 0.70). Most PD-associated microbial trends were stronger in those with symmetric motor symptoms., Conclusion: We provide further evidence that the PD microbiome is characterized by reduced intermicrobial communication and a shift to proteolytic metabolism in lieu of short-chain fatty acid production, and suggest that these microbial alterations may be relevant to disease progression. We also describe how our results support the existence of gut-first versus brain-first PD subtypes. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society., (© 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)

Published
2024
Full Text
View/download PDF

47. Application of design of experiment for quantification of 71 new psychoactive substances in influent wastewater.

Author

Nadarajan D, O'Brien J, Cresswell S, Kele B, Mueller J, and Bade R

Subjects
Chromatography, Liquid methods, Limit of Detection, Wastewater analysis, Wastewater chemistry, Psychotropic Drugs analysis, Water Pollutants, Chemical analysis, Tandem Mass Spectrometry methods
Abstract

Background: New psychoactive substances (NPS) are of public health concern due to their sporadic proliferation and the dearth of information on toxicity when consumed. In addition to seized data from forensic and toxicology reporting, wastewater analysis serves as a complimentary tool for NPS surveillance. A method to detect 71 NPS by simple filtration followed by liquid-chromatography tandem mass spectrometry was developed to detect multiclass NPS consisting of arylcyclohexylamines, designer benzodiazepines, synthetic cannabinoids, synthetic opioids, phenethylamines, synthetic cathinones, tryptamines, and indole alkaloids., Results: In this work, the influential factors for electrospray ionisation were identified and optimised using the fractional factorial design and face-centred central composite design, respectively. The filtration loss during sample clean-up was assessed for all compounds. The final method was validated and applied to wastewater collected from a music festival held in Queensland in 2022. The validated method had linearity between 0.5 ng L -1 and 5000 ng L -1 , the limit of quantification (LOQ) ranges from 0.6 ng L -1 to 70 ng L -1 , precision within ±20 %, accuracy ranges from 70 % to 120 %, and matrix effect ranges from soft (0 %-20 %) to medium (20 %-50 %) for the majority of the compounds. NPS detected in the festival were 2-fluorodeschloroketamine, 7-hydroxymitragynine, mitragynine, N,N-dimethylpentylone, pentylone, phenibut, and O-desmethyltramadol., Significance: Systematic electrospray ionisation optimisation using the design of experiment for a large method is practical and provides in-depth chemical information on studied compounds. The optimised method demonstrated the applicability of analysing samples collected from a festival in this work., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)

Published
2024
Full Text
View/download PDF

48. RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.

Author

Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Periñan MT, Amouri R, Ben Sassi S, Hentati F, Tonelli F, Alessi DR, and Farrer MJ

Subjects
Adult, Aged, Female, Humans, Male, Middle Aged, Canada epidemiology, Case-Control Studies, Exome Sequencing, Genetic Linkage genetics, Genetic Predisposition to Disease genetics, Genotype, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 genetics, Tunisia, Parkinson Disease genetics, rab GTP-Binding Proteins genetics
Abstract

Background: Parkinson's disease is a progressive neurodegenerative disorder with multifactorial causes, among which genetic risk factors play a part. The RAB GTPases are regulators and substrates of LRRK2, and variants in the LRRK2 gene are important risk factors for Parkinson's disease. We aimed to explore genetic variability in RAB GTPases within cases of familial Parkinson's disease., Methods: We did whole-exome sequencing in probands from families in Canada and Tunisia with Parkinson's disease without a genetic cause, who were recruited from the Centre for Applied Neurogenetics (Vancouver, BC, Canada), an international consortium that includes people with Parkinson's disease from 36 sites in 24 countries. 61 RAB GTPases were genetically screened, and candidate variants were genotyped in relatives of the probands to assess disease segregation by linkage analysis. Genotyping was also done to assess variant frequencies in individuals with idiopathic Parkinson's disease and controls, matched for age and sex, who were also from the Centre for Applied Neurogenetics but unrelated to the probands or each other. All participants were aged 18 years or older. The sequencing and genotyping findings were validated by case-control association analyses using bioinformatic data obtained from publicly available clinicogenomic databases (AMP-PD, GP2, and 100 000 Genomes Project) and a private German clinical diagnostic database (University of Tübingen). Clinical and pathological findings were summarised and haplotypes were determined. In-vitro studies were done to investigate protein interactions and enzyme activities., Findings: Between June 1, 2010, and May 31, 2017, 130 probands from Canada and Tunisia (47 [36%] female and 83 [64%] male; mean age 72·7 years [SD 11·7; range 38-96]; 109 White European ancestry, 18 north African, two east Asian, and one Hispanic] underwent whole-exome sequencing. 15 variants in RAB GTPase genes were identified, of which the RAB32 variant c.213C>G (Ser71Arg) cosegregated with autosomal dominant Parkinson's disease in three families (nine affected individuals; non-parametric linkage Z score=1·95; p=0·03). 2604 unrelated individuals with Parkinson's disease and 344 matched controls were additionally genotyped, and five more people originating from five countries (Canada, Italy, Poland, Turkey, and Tunisia) were identified with the RAB32 variant. From the database searches, in which 6043 individuals with Parkinson's disease and 62 549 controls were included, another eight individuals were identified with the RAB32 variant from four countries (Canada, Germany, UK, and USA). Overall, the association of RAB32 c.213C>G (Ser71Arg) with Parkinson's disease was significant (odds ratio [OR] 13·17, 95% CI 2·15-87·23; p=0·0055; I 2 =99·96%). In the people who had the variant, Parkinson's disease presented at age 54·6 years (SD 12·75, range 31-81, n=16), and two-thirds had a family history of parkinsonism. RAB32 Ser71Arg heterozygotes shared a common haplotype, although penetrance was incomplete. Findings in one individual at autopsy showed sparse neurofibrillary tangle pathology in the midbrain and thalamus, without Lewy body pathology. In functional studies, RAB32 Arg71 activated LRRK2 kinase to a level greater than RAB32 Ser71., Interpretation: RAB32 Ser71Arg is a novel genetic risk factor for Parkinson's disease, with reduced penetrance. The variant was found in individuals with Parkinson's disease from multiple ethnic groups, with the same haplotype. In-vitro assays show that RAB32 Arg71 activates LRRK2 kinase, which indicates that genetically distinct causes of familial parkinsonism share the same mechanism. The discovery of RAB32 Ser71Arg also suggests several genetically inherited causes of Parkinson's disease originated to control intracellular immunity. This shared aetiology should be considered in future translational research, while the global epidemiology of RAB32 Ser71Arg needs to be assessed to inform genetic counselling., Funding: National Institutes of Health, the Canada Excellence Research Chairs program, Aligning Science Across Parkinson's, the Michael J Fox Foundation for Parkinson's Research, and the UK Medical Research Council., Competing Interests: Declaration of interests AR receives unrestricted research support from the Dr Ali Rajput Endowment for Parkinson's Disease and Movement Disorders; in the past 2 years AR has received honoraria from Quebec Consortium for Drug Discovery–Brain Canada and Ipsen Biopharmaceuticals Canada. MSG reports grants from National Institutes of Health (NIH)–National Institute of Neurological Disorders and Stroke (NINDS) and the Michael J Fox Foundation for Parkinson's Research. AJS has received fees from Neurocrine (Chair, Data and Safety Monitoring Board [DSMB]), AskBio (Member, DSMB) and Capsida (advisor), receives a stipend from the International Parkinson's and Movement Disorders Society (Editor-in-Chief, Movement Disorders) and grant funding from Michael J Fox Foundation, Weston Brain Institute, and Brain Canada. ZG-O received consultancy fees from Bial Biotec, Bial, Capsida, Handl Therapeutics, Idorsia, Neuron23, Ono Therapeutics, Prevail Therapeutics, UCB, and Vanqua. He reports grants from the Michael J Fox Foundation for Parkinson's Research, The Weston Family Foundation, The Silverstein Foundation, NIH, and the Canadian Consortium on Neurodegeneration in Aging. HRM is employed by University College Londn. In the last 12 months he reports paid consultancy from Roche, Aprinoia, AI Therapeutics, and Amylyx; lecture fees or honoraria from BMJ, Kyowa Kirin, Movement Disorders Society; and research grants from Parkinson's UK, Cure Parkinson's Trust, PSP Association, Medical Research Council, and Michael J Fox Foundation. HRM is a co-applicant on a patent application related to C9ORF72: method for diagnosing a neurodegenerative disease (PCT/GB2012/052140). MJF reports US patents associated with LRRK2 mutations and mouse models (8409809 and 8455243), and methods of treating neurodegenerative disease (20110092565). SA-C has received honoraria from Merz, and grant funding from the Pacific Parkinson's Research Institute, the Weston Family Foundation, Parkinson Canada, Canadian Institutes of Health Research (CIHR), the VGH and UBC Hospital Foundation, Rick's Heart Foundation, and the Jack and Darlene Poole Foundation. All other authors declare no competing interests., (Copyright © 2024 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license. Published by Elsevier Ltd.. All rights reserved.)

Published
2024
Full Text
View/download PDF

49. Apathy scores in Parkinson's disease relate to EEG components in an incentivized motor task.

Author

Lee S, Song E, Zhu M, Appel-Cresswell S, and McKeown MJ

Abstract

Apathy is one of the most prevalent non-motor symptoms of Parkinson's disease and is characterized by decreased goal-directed behaviour due to a lack of motivation and/or impaired emotional reactivity. Despite its high prevalence, the neurophysiological mechanisms underlying apathy in Parkinson's disease, which may guide neuromodulation interventions, are poorly understood. Here, we investigated the neural oscillatory characteristics of apathy in Parkinson's disease using EEG data recorded during an incentivized motor task. Thirteen Parkinson's disease patients with apathy and 13 Parkinson's disease patients without apathy as well as 12 healthy controls were instructed to squeeze a hand grip device to earn a monetary reward proportional to the grip force they used. Event-related spectral perturbations during the presentation of a reward cue and squeezing were analysed using multiset canonical correlation analysis to detect different orthogonal components of temporally consistent event-related spectral perturbations across trials and participants. The first component, predominantly located over parietal regions, demonstrated suppression of low-beta (12-20 Hz) power (i.e. beta desynchronization) during reward cue presentation that was significantly smaller in Parkinson's disease patients with apathy compared with healthy controls. Unlike traditional event-related spectral perturbation analysis, the beta desynchronization in this component was significantly correlated with clinical apathy scores. Higher monetary rewards resulted in larger beta desynchronization in healthy controls but not Parkinson's disease patients. The second component contained gamma and theta frequencies and demonstrated exaggerated theta (4-8 Hz) power in Parkinson's disease patients with apathy during the reward cue and squeezing compared with healthy controls (HCs), and this was positively correlated with Montreal Cognitive Assessment scores. The third component, over central regions, demonstrated significantly different beta power across groups, with apathetic groups having the lowest beta power. Our results emphasize that altered low-beta and low-theta oscillations are critical for reward processing and motor planning in Parkinson's disease patients with apathy and these may provide a target for non-invasive neuromodulation., Competing Interests: The authors report no competing interests., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain.)

Published
2024
Full Text
View/download PDF

50. A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.

Author

Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Tocino T, Amouri R, Sassi SB, Hentati F, Tonelli F, Alessi DR, and Farrer MJ

Abstract

Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder. Mendelian forms have revealed multiple genes, with a notable emphasis on membrane trafficking; RAB GTPases play an important role in PD as a subset are both regulators and substrates of LRRK2 protein kinase. To explore the role of RAB GTPases in PD, we undertook a comprehensive examination of their genetic variability in familial PD., Methods: Affected probands from 130 multi-incident PD families underwent whole-exome sequencing and genotyping, Potential pathogenic variants in 61 RAB GTPases were genotyped in relatives to assess disease segregation. These variants were also genotyped in a larger case-control series, totaling 3,078 individuals (2,734 with PD). The single most significant finding was subsequently validated within genetic data (6,043 with PD). Clinical and pathologic findings were summarized for gene-identified patients, and haplotypes were constructed. In parallel, wild-type and mutant RAB GTPase structural variation, protein interactions, and resultant enzyme activities were assessed., Findings: We found RAB32 c.213C>G (Ser71Arg) to co-segregate with autosomal dominant parkinsonism in three multi-incident families. RAB32 Ser71Arg was also significantly associated with PD in case-control samples: genotyping and database searches identified thirteen more patients with the same variant that was absent in unaffected controls. Notably, RAB32 Ser71Arg heterozygotes share a common haplotype. At autopsy, one patient had sparse neurofibrillary tangle pathology in the midbrain and thalamus, without Lewy body pathology. In transfected cells the RAB32 Arg71 was twice as potent as Ser71 wild type to activate LRRK2 kinase., Interpretation: Our study provides unequivocal evidence to implicate RAB32 Ser71Arg in PD. Functional analysis demonstrates LRRK2 kinase activation. We provide a mechanistic explanation to expand and unify the etiopathogenesis of monogenic PD., Funding: National Institutes of Health, the Canada Excellence Research Chairs program, Aligning Science Across Parkinson's, the Michael J. Fox Foundation for Parkinson's Research, and the UK Medical Research Council., Competing Interests: AR receives unrestricted research support from the Dr. Ali Rajput Endowment for Parkinson’s Disease and Movement Disorders; in the past two years AR has received honoraria from CQDM/Brain Canada and Ipsen Biopharmaceuticals Canada. MSG reports grants from NIH/NINDS and the Michael J. Fox Foundation for Parkinson’s Research. AJS has received fees from Neurocrine (Chair, DSMB), AskBio (Member, DSMB) and Capsida (advisor), receives a stipend from the International Parkinsons and Movement Disorders Society (Editor-in-Chief, Movement Disorders) and grant funding from Michael J. Fox Foundation, Weston Brain Institute and Brain Canada. ZGO received consultancy fees from Bial Biotec, Bial, Capsida, Handl Therapeutics, Idorsia, Neuron23, Ono Therapeutics, Prevail Therapeutics, UCB and Vanqua. He reports grants from the Michael J. Fox Foundation for Parkinson’s Research, The Weston Family Foundation, The Silverstein Foundation, NIH and the Canadian Consortium on Neurodegeneration in Aging (CCNA). MJF reports US patents associated with LRRK2 mutations and mouse models (8409809, 8455243), and methods of treating neurodegenerative disease (20110092565). SAC has received honoraria from Merz, and grant funding from the Pacific Parkinson’s Research Institute, the Weston Family Foundation, Parkinson Canada, Canadian Institutes of Health Research, the VGH and UBC Hospital Foundation, Rick’s Heart Foundation and the Jack and Darlene Poole Foundation.

Published
2024
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results