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1. Associations between gut microbiota characteristics and non‐motor symptoms following pharmacological and surgical treatments in Parkinson's disease patients.

Author

Gorecka‐Mazur, Agnieszka, Krygowska‐Wajs, Anna, Furgala, Agata, Li, Jiaqi, Misselwitz, Benjamin, Pietraszko, Wojciech, Kwinta, Borys, and Yilmaz, Bahtiyar

Subjects
*GUT microbiome, *PARKINSON'S disease, *DRUG therapy, *DEEP brain stimulation, *ENTERIC nervous system, *MOVEMENT disorders, *IRRITABLE colon
Abstract

Background: The gut microbiota has been implicated in Parkinson's disease (PD), with alterations observed in microbial composition and reduced microbial species richness, which may influence gastrointestinal symptoms in PD patients. It remains to be determined whether the severity of gastrointestinal symptoms correlates with microbiota variations in PD patients treated pharmacologically or with subthalamic nucleus deep brain stimulation (STN‐DBS) therapy. This study aims to explore how these treatments affect gut microbiota and gastrointestinal symptoms in PD, identifying specific microbial differences associated with each treatment modality. Methods: A total of 42 individuals diagnosed with PD, along with 38 age‐matched household control participants, contributed stool samples for microbiota characterization. Differences in the gut microbiota across various groups of PD patients and their households were identified through comprehensive sequencing of the 16S rRNA gene amplicon sequencing. Key Results: Differences in microbial communities were observed between PD patients and controls, as well as between PD patients receiving pharmacological treatment and those with STN‐DBS. Pharmacologically treated advanced PD patients have higher gastrointestinal dysfunctions. Gut microbiota profile linked to STN‐DBS and reduced levodopa consumption, characterized by its anti‐inflammatory properties, might play a role in diminishing gastrointestinal dysfunction relative to only pharmacological treatments. Conclusions & Inferences: Advanced PD patients on medication exhibit more gastrointestinal issues, despite relatively stable microbial diversity, indicating a complex interaction between gut microbiota, PD progression, and treatment effects. An imbalanced gut–brain axis, particularly due to reduced butyrate production, may lead to constipation by affecting the enteric nervous system, which emphasizes the need to incorporate gut microbiome insights into treatment strategies. [ABSTRACT FROM AUTHOR]

Published
2024
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2. Cathepsin B p.Gly284Val Variant in Parkinson’s Disease Pathogenesis

Author

Lukasz M. Milanowski, Xu Hou, Jenny M. Bredenberg, Fabienne C. Fiesel, Liam T. Cocker, Alexandra I. Soto-Beasley, Ronald L. Walton, Audrey J. Strongosky, Ayman H. Faroqi, Maria Barcikowska, Magdalena Boczarska-Jedynak, Jaroslaw Dulski, Lyuda Fedoryshyn, Piotr Janik, Anna Potulska-Chromik, Katherine Karpinsky, Anna Krygowska-Wajs, Tim Lynch, Diana A. Olszewska, Grzegorz Opala, Aleksander Pulyk, Irena Rektorova, Yanosh Sanotsky, Joanna Siuda, Mariusz Widlak, Jaroslaw Slawek, Monika Rudzinska-Bar, Ryan Uitti, Monika Figura, Stanislaw Szlufik, Sylwia Rzonca-Niewczas, Elzbieta Podgorska, Pamela J. McLean, Dariusz Koziorowski, Owen A. Ross, Dorota Hoffman-Zacharska, Wolfdieter Springer, and Zbigniew K. Wszolek

Subjects
Parkinson’s disease, familial forms, monogenic forms, CTSB, fibroblasts, Biology (General), QH301-705.5, Chemistry, QD1-999
Abstract

Parkinson’s disease (PD) is generally considered a sporadic disorder, but a strong genetic background is often found. The aim of this study was to identify the underlying genetic cause of PD in two affected siblings and to subsequently assess the role of mutations in Cathepsin B (CTSB) in susceptibility to PD. A typical PD family was identified and whole-exome sequencing was performed in two affected siblings. Variants of interest were validated using Sanger sequencing. CTSB p.Gly284Val was genotyped in 2077 PD patients and 615 unrelated healthy controls from the Czech Republic, Ireland, Poland, Ukraine, and the USA. The gene burden analysis was conducted for the CTSB gene in an additional 769 PD probands from Mayo Clinic Florida familial PD cohort. CTSB expression and activity in patient-derived fibroblasts and controls were evaluated by qRT-PCR, western blot, immunocytochemistry, and enzymatic assay. The CTSB p.Gly284Val candidate variant was only identified in affected family members. Functional analysis of CTSB patient-derived fibroblasts under basal conditions did not reveal overt changes in endogenous expression, subcellular localization, or enzymatic activity in the heterozygous carrier of the CTSB variant. The identification of the CTSB p.Gly284Val may support the hypothesis that the CTSB locus harbors variants with differing penetrance that can determine the disease risk.

Published
2022
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3. TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson¿s disease

Author

Rayaprolu, Sruti, Mullen, Bianca, Baker, Matt, Lynch, Timothy, Finger, Elizabeth, Seeley, William W, Hatanpaa, Kimmo J, Lomen-Hoerth, Catherine, Kertesz, Andrew, Bigio, Eileen H, Lippa, Carol, Josephs, Keith A, Knopman, David S, White, Charles L, Caselli, Richard, Mackenzie, Ian R, Miller, Bruce L, Boczarska-Jedynak, Magdalena, Opala, Grzegorz, Krygowska-Wajs, Anna, Barcikowska, Maria, Younkin, Steven G, Petersen, Ronald C, Ertekin-Taner, Nilüfer, Uitti, Ryan J, Meschia, James F, Boylan, Kevin B, Boeve, Bradley F, Graff-Radford, Neill R, Wszolek, Zbigniew K, Dickson, Dennis W, Rademakers, Rosa, and Ross, Owen A

Abstract

Abstract Background A rare variant in the Triggering Receptor Expressed on Myeloid cells 2 (TREM2) gene has been reported to be a genetic risk factor for Alzheimer’s disease by two independent groups (Odds ratio between 2.9-4.5). Given the key role of TREM2 in the effective phagocytosis of apoptotic neuronal cells by microglia, we hypothesized that dysfunction of TREM2 may play a more generalized role in neurodegeneration. With this in mind we set out to assess the genetic association of the Alzheimer’s disease-related risk variant in TREM2 (rs75932628, p.R47H) with other related neurodegenerative disorders. Results The study included 609 patients with frontotemporal dementia, 765 with amyotrophic lateral sclerosis, 1493 with Parkinson’s disease, 772 with progressive supranuclear palsy, 448 with ischemic stroke and 1957 controls subjects free of neurodegenerative disease. A significant association was observed for the TREM2 p.R47H substitution in susceptibility to frontotemporal dementia (OR = 5.06; p-value = 0.001) and Parkinson’s disease (OR = 2.67; p-value = 0.026), while no evidence of association with risk of amyotrophic lateral sclerosis, progressive supranuclear palsy or ischemic stroke was observed. Conclusions Our results suggest that the TREM2 p.R47H substitution is a risk factor for frontotemporal dementia and Parkinson’s disease in addition to Alzheimer’s disease. These findings suggest a more general role for TREM2 dysfunction in neurodegeneration, which could be related to its role in the immune response.

Published
2013

4. Gene polymorphisms and motor levodopa‐induced complications in Parkinson's disease

Author

Małgorzata Michałowska, Małgorzata Chalimoniuk, Ewa Jówko, Iwona Przybylska, Józef Langfort, Beata Toczylowska, Anna Krygowska‐Wajs, and Urszula Fiszer

Subjects
brain‐derived neurotrophic factor, catechol‐O‐methyltransferase, dopamine transporter, motor levodopa‐induced complications, Parkinson's disease, single‐nucleotide polymorphism, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Abstract Objective The aim of the study was to evaluate the association of individual and combined single‐nucleotide polymorphisms in brain‐derived neurotrophic factor (BDNF), dopamine transporter (DAT), and catechol‐O‐methyltransferase (COMT) genes with the occurrence of motor levodopa‐induced complications (MLIC) in Parkinson's disease (PD). Materials and Methods We studied 76 patients with PD (MLIC occurred in 56.6%) and 60 controls. Allelic discrimination of rs6265 BDNF (Val66Met), rs397595 DAT (SLC6A3), and rs4680 COMT (Val158Met) genes were genotyped. Odds ratios (OR) and 95% confidence intervals (95% CI) were calculated using multinominal logistic regression. Orthogonal partial least squares (OPLS) analysis and OPLS discriminant analysis (OPLS‐DA) were used to analyze qualitative genetic data. Results The risk of PD in subjects with the AG BDNF genotype was increased sixfold (OR = 6.12, 95% CI = 2.88–13.02, p 1). There were no differences in distributions of BDNF, DAT and COMT genotypes between PD groups with and without MLIC, while OPLS model showed that genotype combination of AG BDNF, AG DAT, and GG COMT was correlated with MLIC and genotypes combination of GG BDNF, AA DAT, and AA COMT with lack of MLIC in PD patients (VIP > 1). Conclusions Our results confirmed the association of rs6265 BDNF (Val66Met) with the risk of PD and suggest a synergic effect of rs6265 BDNF (Val66Met), rs397595 DAT (SLC6A3), and rs4680 COMT (Val158Met) polymorphisms on the occurrence of MLIC.

Published
2020
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6. Validation of the Polish version of the Unified Dyskinesia Rating Scale (UDysRS)

Author

Jarosław Sławek, Magdalena Boczarska-Jedynak, Urszula Fiszer, Joanna Siuda, Piotr Janik, Marek Śmiłowski, Marta Leńska-Mieciek, Dariusz Koziorowski, Jarosław Dulski, Glenn T. Stebbins, Monika Figura, Agata Gajos, Ewa Koziorowska-Gawron, Sławomir Budrewicz, Mateusz Toś, Jeffrey Lin, Magdalena Wójcik-Pędziwiatr, Andrzej Bogucki, Anna Krygowska-Wajs, Pablo Martinez-Martin, Magdalena Koszewicz, Małgorzata Michałowska, Agnieszka Gorzkowska, Grzegorz Opala, Monika Rudzińska-Bar, Sheng Luo, Christopher G. Goetz, Marta Piaścik-Gromada, Katarzyna Potasz-Kulikowska, and Anna Wasilewska

Subjects
Dyskinesias, business.industry, Reproducibility of Results, Parkinson Disease, Spanish version, Factor structure, Severity of Illness Index, eye diseases, humanities, Executive committee, Index score, Dyskinesia, Rating scale, medicine, Humans, Translations, Surgery, In patient, Poland, Neurology (clinical), medicine.symptom, business, Reference standards, Clinical psychology
Abstract

Background. In 2008, the Movement Disorders Society published the Unified Dyskinesia Rating Scale (UDysRS). This has become the established tool for assessing the severity and disability associated with dyskinesia in patients with Parkinson’s Disease (PD). We translated and validated the Polish version of the UDysRS, explored its dimensionality, and compared it to the Spanish version, which is the Reference Standard for UDysRS translations. Material and methods. The UDysRS was translated into Polish by a team led by JS and GO. The back-translation, completed by colleagues fluent in both Polish and English who were not involved in the original translation, was reviewed and approved by the Executive Committee of the MDS Rating Scales Programme. Then the translated version of the UDysRS underwent cognitive pretesting, and the translation was modified based on the results. The approved version was considered to be the Official Working Document of the Polish UDysRS and was tested on 250 Polish PD patients recruited at movement disorder centres. Data was compared to the Reference Standard used for validating UDysRS translations. Results. The overall factor structure of the Polish version was consistent with that of the Reference Standard version, as evidenced by the high Confirmatory Fit Index score (CFI = 0.98). The Polish UDysRS was thus confirmed to share a common factor structure with the Reference Standard. Conclusions. The Official Polish UDysRS translation is recommended for use in clinical and research settings. Worldwide use of uniform rating measures offers a common ground to study similarities and differences in disease manifestations and progression across cultures.

Published
2021

8. Cathepsin B p.Gly284Val Variant in Parkinson’s Disease Pathogenesis

Author

Milanowski, Lukasz M., primary, Hou, Xu, additional, Bredenberg, Jenny M., additional, Fiesel, Fabienne C., additional, Cocker, Liam T., additional, Soto-Beasley, Alexandra I., additional, Walton, Ronald L., additional, Strongosky, Audrey J., additional, Faroqi, Ayman H., additional, Barcikowska, Maria, additional, Boczarska-Jedynak, Magdalena, additional, Dulski, Jaroslaw, additional, Fedoryshyn, Lyuda, additional, Janik, Piotr, additional, Potulska-Chromik, Anna, additional, Karpinsky, Katherine, additional, Krygowska-Wajs, Anna, additional, Lynch, Tim, additional, Olszewska, Diana A., additional, Opala, Grzegorz, additional, Pulyk, Aleksander, additional, Rektorova, Irena, additional, Sanotsky, Yanosh, additional, Siuda, Joanna, additional, Widlak, Mariusz, additional, Slawek, Jaroslaw, additional, Rudzinska-Bar, Monika, additional, Uitti, Ryan, additional, Figura, Monika, additional, Szlufik, Stanislaw, additional, Rzonca-Niewczas, Sylwia, additional, Podgorska, Elzbieta, additional, McLean, Pamela J., additional, Koziorowski, Dariusz, additional, Ross, Owen A., additional, Hoffman-Zacharska, Dorota, additional, Springer, Wolfdieter, additional, and Wszolek, Zbigniew K., additional

Published
2022
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11. Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson's Disease Locus.

Author

Catherine Labbé, Kotaro Ogaki, Oswaldo Lorenzo-Betancor, Minerva M Carrasquillo, Michael G Heckman, Allan McCarthy, Alexandra I Soto-Ortolaza, Ronald L Walton, Timothy Lynch, Joanna Siuda, Grzegorz Opala, Anna Krygowska-Wajs, Maria Barcikowska, Krzysztof Czyzewski, Dennis W Dickson, Ryan J Uitti, Zbigniew K Wszolek, and Owen A Ross

Subjects
Medicine, Science
Abstract

Genome-wide association studies (GWAS) in Parkinson's disease (PD) have identified over 20 genomic regions associated with disease risk. Many of these loci include several candidate genes making it difficult to pinpoint the causal gene. The locus on chromosome 2q24.3 encompasses three genes: B3GALT1, STK39, and CERS6. In order to identify if the causal variants are simple missense changes, we sequenced all 31 exons of these three genes in 187 patients with PD. We identified 13 exonic variants including four non-synonymous and three insertion/deletion variants (indels). These non-synonymous variants and rs2102808, the GWAS tag SNP, were genotyped in three independent series consisting of a total of 1976 patients and 1596 controls. Our results show that the seven identified 2q24.3 coding variants are not independently responsible for the GWAS association signal at the locus; however, there is a haplotype, which contains both rs2102808 and a STK39 exon 1 6bp indel variant, that is significantly associated with PD risk (Odds Ratio [OR] = 1.35, 95% CI: 1.11-1.64, P = 0.003). This haplotype is more associated than each of the two variants independently (OR = 1.23, P = 0.005 and 1.10, P = 0.10, respectively). Our findings suggest that the risk variant is likely located in a non-coding region. Additional sequencing of the locus including promoter and regulatory regions will be needed to pinpoint the association at this locus that leads to an increased risk to PD.

Published
2015
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12. 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

13. Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe

Author

Milanowski, Łukasz M., Lindemann, Jennifer A., Hoffman-Zacharska, Dorota, Soto-Beasley, Alexandra I., Barcikowska, Maria, Boczarska-Jedynak, Magdalena, Deutschlander, Angela, Kłodowska, Gabriela, Dulski, Jarosław, Fedoryshyn, Lyuda, Friedman, Andrzej, Jamrozik, Zygmunt, Janik, Piotr, Karpinsky, Katherine, Koziorowski, Dariusz, Krygowska-Wajs, Anna, Jasińska-Myga, Barbara, Opala, Grzegorz, Potulska-Chromik, Anna, Pulyk, Aleksander, Rektorova, Irena, Sanotsky, Yanosh, Siuda, Joanna, Sławek, Jarosław, Śmiłowska, Katarzyna, Szczechowski, Lech, Rudzińska-Bar, Monika, Walton, Ronald L., Ross, Owen A., and Wszolek, Zbigniew K.

Published
2021
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15. DNAJC13 p.Asn855Ser mutation screening in Parkinsonʼs disease and pathologically confirmed Lewy body disease patients

Author

Lorenzo-Betancor, O., Ogaki, K., Soto-Ortolaza, A. I., Labbe, C., Walton, R. L., Strongosky, A. J., van Gerpen, J. A., Uitti, R. J., McLean, P. J., Springer, W., Siuda, J., Opala, G., Krygowska-Wajs, A., Barcikowska, M., Czyzewski, K., McCarthy, A., Lynch, T., Puschmann, A., Rektorova, I., Sanotsky, Y., Vilariño-Güell, C., Farrer, M. J., Ferman, T. J., Boeve, B. F., Petersen, R. C., Parisi, J. E., Graff-Radford, N. R., Dickson, D. W., Wszolek, Z. K., and Ross, O. A.

Published
2015
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17. Validation of the Polish version of the Unified Dyskinesia Rating Scale (UDysRS)

Author

Siuda, Joanna, primary, Boczarska-Jedynak, Magdalena, additional, Budrewicz, Sławomir, additional, Dulski, Jarosław, additional, Figura, Monika, additional, Fiszer, Urszula, additional, Gajos, Agata, additional, Gorzkowska, Agnieszka, additional, Koziorowska-Gawron, Ewa, additional, Koziorowski, Dariusz, additional, Krygowska-Wajs, Anna, additional, Rudzińska-Bar, Monika, additional, Sławek, Jarosław, additional, Toś, Mateusz, additional, Wójcik-Pędziwiatr, Magdalena, additional, Lin, Jeffrey, additional, Luo, Sheng, additional, Martinez-Martin, Pablo, additional, Stebbins, Glenn T., additional, Goetz, Christopher G., additional, Bogucki, Andrzej, additional, Janik, Piotr, additional, Koszewicz, Magdalena, additional, Leńska-Mieciek, Marta, additional, Michałowska, Małgorzata, additional, Piaścik-Gromada, Marta, additional, Potasz-Kulikowska, Katarzyna, additional, Śmiłowski, Marek, additional, Wasilewska, Anna, additional, and Opala, Grzegorz, additional

Published
2021
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18. Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe

Author

Ronald L. Walton, Joanna Siuda, Zygmunt Jamrozik, Angela Deutschländer, Piotr Janik, Magdalena Boczarska-Jedynak, Maria Barcikowska, Katherine Karpinsky, Alexandra I. Soto-Beasley, Irena Rektorová, Lech Szczechowski, Andrzej Friedman, Dorota Hoffman-Zacharska, Barbara Jasinska-Myga, Dariusz Koziorowski, Jarosław Dulski, Jarosław Sławek, Jennifer A. Lindemann, Aleksander Pulyk, Katarzyna Śmiłowska, Lyuda Fedoryshyn, Zbigniew K. Wszolek, Owen A. Ross, Anna Potulska-Chromik, Gabriela Kłodowska, Grzegorz Opala, Monika Rudzińska-Bar, Y Sanotsky, Łukasz Milanowski, and Anna Krygowska-Wajs

Subjects
0301 basic medicine, Czech, Adult, Male, medicine.medical_specialty, Movement disorders, Ubiquitin-Protein Ligases, Protein Deglycase DJ-1, PINK1, Disease, Compound heterozygosity, Article, Cohort Studies, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Internal medicine, Medicine, Humans, In patient, Early onset, Aged, Sanger sequencing, business.industry, Parkinson Disease, Middle Aged, language.human_language, Europe, 030104 developmental biology, Neurology, Mutation, language, symbols, Female, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, business, Protein Kinases, 030217 neurology & neurosurgery
Abstract

Introduction Approximately 10% of patients with Parkinson disease (PD) present with early-onset disease (EOPD), defined as diagnosis before 50 years of age. Genetic factors are known to contribute to EOPD, with most commonly observed mutations in PRKN, PINK1, and DJ1 genes. The aim of our study was to analyze the frequency of PRKN, PINK1, and DJ1 mutations in an EOPD series from 4 neighboring European countries: Czech Republic, Germany, Poland, and Ukraine. Methods Diagnosis of PD was made based on UK Brain Bank diagnostic criteria in departments experienced in movement disorders (1 from Czech Republic, 1 from Germany, 9 from Poland, and 3 from Ukraine). EOPD was defined as onset at or before 50 years of age. Of the 541 patients recruited to the study, 11 were Czech, 38 German, 476 Polish, and 16 Ukrainian. All cohorts were fully screened with Sanger sequencing for PRKN, PINK1, and DJ1 and multiplex ligation-dependent probe amplification for exon dosage. Results PRKN homozygous or double heterozygous mutations were identified in 17 patients: 1 Czech (9.1%), 1 German (2.6%), 14 Polish (2.9%), and 1 Ukrainian (6.3%). PINK1 homozygous mutations were only identified in 3 Polish patients (0.6%). There were no homozygous or compound heterozygous DJ1 mutations in analyzed subpopulations. One novel variant in PRKN was identified in the Ukrainian series. Conclusion In the analyzed cohorts, mutations in the genes PRKN, PINK1, and DJ1 are not frequently observed.

Published
2020

20. Genetic variation of Omi/HtrA2 and Parkinson's disease

Author

Ross, Owen A., Soto, Alexandra I., Vilariño-Güell, Carles, Heckman, Michael G., Diehl, Nancy N., Hulihan, Mary M., Aasly, Jan O., Sando, Sigrid, Gibson, J. Mark, Lynch, Timothy, Krygowska-Wajs, Anna, Opala, Grzegorz, Barcikowska, Maria, Czyzewski, Krzysztof, Uitti, Ryan J., Wszolek, Zbigniew K., and Farrer, Matthew J.

Published
2008
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21. Dopamine β-hydroxylase −1021C>T association and Parkinson's disease

Author

Ross, Owen A., Heckman, Michael G., Soto, Alexandra I., Diehl, Nancy N., Haugarvoll, Kristoffer, Vilariño-Güell, Carles, Aasly, Jan O., Sando, Sigrid, Gibson, J. Mark, Lynch, Timothy, Krygowska-Wajs, Anna, Opala, Grzegorz, Barcikowska, Maria, Czyzewski, Krzysztof, Uitti, Ryan J., Wszolek, Zbigniew K., and Farrer, Matthew J.

Published
2008
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24. Validation of the Polish version of the Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS)

Author

Joanna Siuda, Glenn T. Stebbins, Jarosław Sławek, Agnieszka Gorzkowska, Marta Piaścik-Gromada, Magdalena Wójcik-Pędziwiatr, Anna Wasielewska, Ewa Koziorowska-Gawron, Sławomir Budrewicz, Monika Rudzińska-Bar, Magdalena Koszewicz, Monika Figura, Jarosław Dulski, Dariusz Koziorowski, Piotr Janik, Katarzyna Potasz-Kulikowska, Xuehan Ren, Pablo Martinez-Martin, Sheng Luo, Małgorzata Michałowska, Marek Śmiłowski, Urszula Fiszer, Marta Leńska-Mieciek, Christopher G. Goetz, Agata Gajos, Anna Krygowska-Wajs, Magdalena Boczarska-Jedynak, Andrzej Bogucki, and Grzegorz Opala

Subjects
business.industry, Mds updrs, Scale (descriptive set theory), Unified Parkinson's disease rating scale, Factor structure, Mental Status and Dementia Tests, Severity of Illness Index, Confirmatory factor analysis, Disability Evaluation, Rating scale, Internal consistency, English version, Medicine, Humans, Surgery, Neurology (clinical), Poland, business, Clinical psychology, Language
Abstract

Background. In 2008, the Movement Disorders Society (MDS) published a new Unified Parkinson’s Disease Rating Scale (MDS-UPDRS) as the official benchmark scale for Parkinson’s Disease (PD). We have translated and validated the Polish version of the MDS-UPDRS, explored its dimensionality, and compared it to the original English one. Methods. The MDS-UPDRS was translated into Polish by a team of Polish investigators led by JS and GO. The back-translation was completed by colleagues fluent in both languages (Polish and English) who were not involved in the original translation, and was reviewed by members of the MDS Rating Scales Programme. Then the translated version of the MDS-UPDRS underwent cognitive pretesting, and the translation was modified based on the results. The final translation was approved as the Official Working Document of the MDS-UPDRS Polish version, and was tested on 355 Polish PD patients recruited at movement disorders centres all over Poland (at Katowice, Gdansk, Łodź, Warsaw, Wroclaw, and Krakow). Confirmatory and explanatory factor analyses were applied to determine whether the factor structure of the English version could be confirmed in the Polish version. Results. The Polish version of the MDS-UPDRS showed satisfactory clinimetric properties. The internal consistency of the Polish version was satisfactory. In the confirmatory factor analysis, all four parts had greater than 0.90 comparative fit index (CFI) compared to the original English MDS-UPDRS. Explanatory factor analysis suggested that the Polish version differed from the English version only within an acceptable range. Conclusions and clinical implications. The Polish version of the MDS-UPDRS meets the requirements to be designated as the Official Polish Version of the MDS-UPDRS, and is available on the MDS web page. We strongly recommend using the MDS-UPDRS instead of the UPDRS for research purposes and in everyday clinical practice.

Published
2020

25. Gene polymorphisms and motor levodopa‐induced complications in Parkinson's disease

Author

Ewa Jówko, Iwona Przybylska, Beata Toczylowska, Anna Krygowska-Wajs, Urszula Fiszer, Małgorzata Michałowska, Małgorzata Chalimoniuk, and Józef Langfort

Subjects
Male, Dyskinesia, Drug-Induced, Parkinson's disease, catechol‐O‐methyltransferase, Antiparkinson Agents, Levodopa, Behavioral Neuroscience, 0302 clinical medicine, Medicine, dopamine transporter, Original Research, Aged, 80 and over, brain‐derived neurotrophic factor, biology, 05 social sciences, Parkinson Disease, Middle Aged, Female, rs6265, rs4680, Adult, medicine.medical_specialty, Genotype, single‐nucleotide polymorphism, Single-nucleotide polymorphism, Catechol O-Methyltransferase, Polymorphism, Single Nucleotide, 050105 experimental psychology, lcsh:RC321-571, 03 medical and health sciences, Internal medicine, mental disorders, Humans, 0501 psychology and cognitive sciences, motor levodopa‐induced complications, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Alleles, Aged, Dopamine transporter, Brain-derived neurotrophic factor, Dopamine Plasma Membrane Transport Proteins, Catechol-O-methyl transferase, OPLS, business.industry, Brain-Derived Neurotrophic Factor, medicine.disease, Endocrinology, nervous system, Pharmacogenetics, biology.protein, business, 030217 neurology & neurosurgery
Abstract

Objective The aim of the study was to evaluate the association of individual and combined single‐nucleotide polymorphisms in brain‐derived neurotrophic factor (BDNF), dopamine transporter (DAT), and catechol‐O‐methyltransferase (COMT) genes with the occurrence of motor levodopa‐induced complications (MLIC) in Parkinson's disease (PD). Materials and Methods We studied 76 patients with PD (MLIC occurred in 56.6%) and 60 controls. Allelic discrimination of rs6265 BDNF (Val66Met), rs397595 DAT (SLC6A3), and rs4680 COMT (Val158Met) genes were genotyped. Odds ratios (OR) and 95% confidence intervals (95% CI) were calculated using multinominal logistic regression. Orthogonal partial least squares (OPLS) analysis and OPLS discriminant analysis (OPLS‐DA) were used to analyze qualitative genetic data. Results The risk of PD in subjects with the AG BDNF genotype was increased sixfold (OR = 6.12, 95% CI = 2.88–13.02, p 1). There were no differences in distributions of BDNF, DAT and COMT genotypes between PD groups with and without MLIC, while OPLS model showed that genotype combination of AG BDNF, AG DAT, and GG COMT was correlated with MLIC and genotypes combination of GG BDNF, AA DAT, and AA COMT with lack of MLIC in PD patients (VIP > 1). Conclusions Our results confirmed the association of rs6265 BDNF (Val66Met) with the risk of PD and suggest a synergic effect of rs6265 BDNF (Val66Met), rs397595 DAT (SLC6A3), and rs4680 COMT (Val158Met) polymorphisms on the occurrence of MLIC., The aim of the study was to evaluate the association of individual and combined single‐nucleotide polymorphisms in brain‐derived neurotrophic factor (BDNF), dopamine transporter (DAT), and catechol‐O‐methyltransferase (COMT) genes with the occurrence of motor levodopa‐induced complications (MLIC) in Parkinson's disease (PD). Seventy‐six patients with PD and 60 controls were included. Allelic discrimination of rs6265 BDNF (Val66Met), rs397595 DAT (SLC6A3), and rs4680 COMT (Val158Met) genes were genotyped. The risk of PD in subjects with the AG BDNF genotype was increased sixfold, and AG BDNF and AG DAT genotypes were correlated with PD in orthogonal partial least squares discriminant analysis (OPLS‐DA). OPLS model showed that genotype combination AG BDNF, AG DAT, and GG COMT was correlated with MLIC and genotypes combination GG BDNF, AA DAT, and AA COMT with lack of MLIC in PD patients.

Published
2020

27. Validation of the Polish version of the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale (MDS-UPDRS)

Author

Siuda, Joanna, primary, Boczarska-Jedynak, Magdalena, additional, Budrewicz, Sławomir, additional, Figura, Monika, additional, Fiszer, Urszula, additional, Gajos, Agata, additional, Gorzkowska, Agnieszka, additional, Koziorowska-Gawron, Ewa, additional, Koziorowski, Dariusz, additional, Krygowska-Wajs, Anna, additional, Rudzińska-Bar, Monika, additional, Sławek, Jarosław, additional, Ren, Xuehan, additional, Luo, Sheng, additional, Martinez-Martin, Pablo, additional, Stebbins, Glenn, additional, Goetz, Christopher G., additional, Opala, Grzegorz, additional, Bogucki, Andrzej, additional, Dulski, Jarosław, additional, Janik, Piotr, additional, Koszewicz, Magdalena, additional, Leńska-Mieciek, Marta, additional, Michałowska, Małgorzata, additional, Piaścik-Gromada, Marta, additional, Potasz-Kulikowska, Katarzyna, additional, Śmiłowski, Marek, additional, Wasielewska, Anna, additional, and Wójcik-Pędziwiatr, Magdalena, additional

Published
2020
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29. A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

Author

Sharma, Manu, Ioannidis, John P A, Aasly, Jan O, Annesi, Grazia, Brice, Alexis, Bertram, Lars, Bozi, Maria, Barcikowska, Maria, Crosiers, David, Clarke, Carl E, Facheris, Maurizio F, Farrer, Matthew, Garraux, Gaetan, Gispert, Suzana, Auburger, Georg, Vilariño-Güell, Carles, Hadjigeorgiou, Georgios M, Hicks, Andrew A, Hattori, Nobutaka, Jeon, Beom S, Jamrozik, Zygmunt, Krygowska-Wajs, Anna, Lesage, Suzanne, Lill, Christina M, Lin, Juei-Jueng, Lynch, Timothy, Lichtner, Peter, Lang, Anthony E, Libioulle, Cecile, Murata, Miho, Mok, Vincent, Jasinska-Myga, Barbara, Mellick, George D, Morrison, Karen E, Meitnger, Thomas, Zimprich, Alexander, Opala, Grzegorz, Pramstaller, Peter P, Pichler, Irene, Park, Sung Sup, Quattrone, Aldo, Rogaeva, Ekaterina, Ross, Owen A., Stefanis, Leonidas, Stockton, Joanne D, Satake, Wataru, Silburn, Peter A, Strom, Tim M, Theuns, Jessie, Tan, Eng- King, Toda, Tatsushi, Tomiyama, Hiroyuki, Uitti, Ryan J, Van Broeckhoven, Christine, Wirdefeldt, Karin, Wszolek, Zbigniew, Xiromerisiou, Georgia, Yomono, Harumi S, Yueh, Kuo-Chu, Zhao, Yi, Gasser, Thomas, Maraganore, Demetrius, and Krüger, Rejko

Published
2012
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32. PARK2, PINK1, and DJ1 in patients with early-onset Parkinson’s disease in four European countries. (2506)

Author

Milanowski, Lukasz, primary, Lindemann, Jennifer, additional, Barcikowska, Maria, additional, Boczarska-Jedynak, Magdalena, additional, Czyzewski, Krzysztof, additional, Deutschlander, Angela, additional, Duda, Gabriela, additional, Fedoryshyn, Lyuda, additional, Friedman, Andrzej, additional, Hoffman-Zacharska, Dorota, additional, Jamrozik, Zygmunt, additional, Karpinsky, Katherine, additional, Koziorowski, Dariusz, additional, Krygowska-Wajs, Anna, additional, Myga, Barbara, additional, Opala, Grzegorz, additional, Pulyk, Aleksander, additional, Rektorova, Irena, additional, Rudzinska-Bar, Monika, additional, Sanotsky, Yanosh, additional, Siuda, Joanna, additional, Slawek, Jaroslaw, additional, Smilowska, Katarzyna, additional, Szczechowski, Lech, additional, Beasley, Alexandra, additional, Ross, Owen, additional, and Wszolek, Zbigniew, additional

Published
2020
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34. Calbindin-1 association and Parkinsonʼs disease

Author

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

Published
2010
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36. Activities of Daily Living and Their Relationship to Health-Related Quality of Life in Patients with Parkinson Disease After Subthalamic Nucleus Deep Brain Stimulation

Author

Wojciech Pietraszko, Borys Kwinta, Agnieszka Gorecka-Mazur, Anna Krygowska-Wajs, Agata Furgała, and Krzysztof Gil

Subjects
Male, medicine.medical_specialty, Activities of daily living, Deep brain stimulation, medicine.medical_treatment, Deep Brain Stimulation, Disease, 03 medical and health sciences, Social support, 0302 clinical medicine, Quality of life, Rating scale, Subthalamic Nucleus, Surveys and Questionnaires, Activities of Daily Living, medicine, Humans, Postoperative Period, Aged, business.industry, Cognition, Parkinson Disease, Middle Aged, humanities, nervous system diseases, Subthalamic nucleus, Treatment Outcome, 030220 oncology & carcinogenesis, Physical therapy, Quality of Life, Surgery, Female, Neurology (clinical), business, human activities, 030217 neurology & neurosurgery
Abstract

Background Deep brain stimulation (DBS) of the subthalamic nucleus (STN) can reduce motor symptoms in patients with Parkinson disease (PD) and improve their health-related quality of life (HRQoL). The effect of STN DBS on activities of daily living (ADL), an important component of quality of life, is poorly understood. We aimed to investigate effects of STN DBS on HRQoL and ADL in patients with PD. Methods HRQoL and ADL were assessed using the following disease-specific and generic questionnaires at baseline and 3, 6, and 12 months after surgery: the Parkinson's Disease Questionnaire 39 (PDQ-39), the Short-Form 36 health survey questionnaire, the World Health Organization Quality of Life Scale–Brief version, the Unified Parkinson's Disease Rating Scale part II, the ADL scale, and the Instrumental Activities of Daily Living scale. Results We reported significant early improvements (3 months) in the HRQoL and ADL, and these benefits increased over time (6 months); however, further improvement between 6 and 12 months was nonsignificant. Two PDQ-39 subdomains (social support and communications) and a Short-Form 36 health survey questionnaire subdomain (social functioning) showed declines after surgery. Changes in the Instrumental Activities of Daily Living scale were significantly correlated with changes in the PDQ-39 summary index and other PDQ-39 subdomains, including mobility, emotional well-being, social support, and cognition, at all follow-up points. Conclusions STN DBS caused a marked improvement in HRQoL at 3 and 6 months; however, HRQoL remained stable at the 12-month postoperative follow-up. Moreover, we have shown a significant correlation between ADL performance and HRQoL after STN DBS.

Published
2019

38. 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

39. 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

41. Assessments of plasma acyl-ghrelin levels and body weight in advanced Parkinson's disease after subthalamic nucleus deep brain stimulation

Author

Krzysztof Gil, J. Kaszuba-Zwoinska, Jarosław Polak, Agata Furgała, Agnieszka Gorecka-Mazur, B. Kwinta, Urszula Fiszer, Anna Krygowska-Wajs, and Wojciech Pietraszko

Subjects
medicine.medical_specialty, Parkinson's disease, business.industry, Subthalamic nucleus deep brain stimulation, Body weight, medicine.disease, Endocrinology, Neurology, Internal medicine, medicine, Acyl ghrelin, Neurology (clinical), Geriatrics and Gerontology, business
Published
2020

42. Acute treatment with doxorubicin induced neurochemical impairment of the function of dopamine system in rat brain structures

Author

Krzysztof Krzemieniecki, Irena Romańska, Lucyna Antkiewicz-Michaluk, Anna Krygowska-Wajs, and Jerzy Michaluk

Subjects
Male, Serotonin, Anthracycline, Dopamine, Hippocampus, Striatum, Pharmacology, Norepinephrine, 03 medical and health sciences, 0302 clinical medicine, Neurochemical, Monoaminergic, medicine, Animals, Doxorubicin, business.industry, General Medicine, Corpus Striatum, Frontal Lobe, Rats, 030220 oncology & carcinogenesis, business, 030217 neurology & neurosurgery, medicine.drug
Abstract

The clinical studies have shown that chemotherapy may impair cognitive functions especially in the patients treated for breast cancer. It should be mention that only few studies have made use of animals to investigate the effects of chemotherapy on the brain function. Doxorubicin (Adriamycin) is an anthracycline antibiotic commonly used for chemotherapy of breast cancer.This study examined the effect of doxorubicin (1.5 and 3.0mg/kg ip) after acute administration on the levels of dopamine, noradrenaline, serotonin and their metabolites in the rat brain structures connected with cognition and psychiatric disorders.The data indicate that doxorubicin produced a significant and specific for the dopamine system inhibition of its activity in the investigated structures connected with the fall of dopamine concentration (decrease from 25 to 30% in the frontal cortex; from 30 to 60% in the hippocampus and about 20% of the control in the striatum, p0.05) and its extraneuronal metabolite, 3-MT (from 35% in the frontal cortex to 60% in the hippocampus of the control level, p0.01). However, doxorubicin did not affect others monoaminergic transmitters in the brain: noradrenaline and serotonin.Summing up, these data indicate that a single injection of doxorubicin produced a clear and significant inhibition of dopamine system activity in all investigated structures with the strongest effect in the hippocampus what may lead to the disturbances of the cognitive functions at the patients treated for cancer. Moreover, such treatment did not significantly affect others monoaminergic transmitters such as noradrenaline and serotonin.

Published
2016

43. The effect of subthalamic deep brain stimulation on gastric motility in Parkinson's disease

Author

Katarzyna Potasz-Kulikowska, Agnieszka Gorecka-Mazur, Agata Furgała, Marek Moskała, Piotr J Thor, Anna Krygowska-Wajs, and Wojciech Pietraszko

Subjects
Male, medicine.medical_specialty, Pathology, Deep brain stimulation, Parkinson's disease, Gastrointestinal Diseases, Deep Brain Stimulation, medicine.medical_treatment, Gastric motility, Motility, Disease, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Subthalamic Nucleus, Internal medicine, Humans, Medicine, Aged, Meal, business.industry, Parkinson Disease, Middle Aged, medicine.disease, nervous system diseases, Subthalamic nucleus, Treatment Outcome, surgical procedures, operative, Postprandial, nervous system, Neurology, Female, 030211 gastroenterology & hepatology, Neurology (clinical), Geriatrics and Gerontology, Gastrointestinal Motility, business, therapeutics, 030217 neurology & neurosurgery
Abstract

Deep brain stimulation of the subthalamic nucleus (STN-DBS) is well established for treating the motor symptoms for advanced Parkinson's disease (PD) but its effects on gastric myoelectrical activity and gastrointestinal symptoms have not been well studied. The aim of this study was to evaluate the effect of STN-DBS on gastric motility using electrogastrography (EGG).Twenty patients with PD (5 females, 15 males; mean aged 58.0 ± 9.0 years) who underwent STN-DBS were studied. EGG was performed in fasting and postprandial conditions before STN-DBS and 3 months after the surgery. We also evaluated the frequency and severity of gastrointestinal symptoms based on a structured gastrointestinal dysfunction questionnaire.After STN-DBS the percentage of normogastria (47.8 ± 20.7 vs 51.3 ± 15.1) and period dominant power (PDP) (11.8 ± 1.2 vs 12.3 ± 0.9) significantly increased, the percentage of arrhythmia decreased compared to the baseline during fasting and postprandial state. Abnormal response to a meal (power ratio of PDP1 after meal) decreased from 70% to 55% after 3 months follow-up. The abnormal EGG (the percentage of normogastria70%) decreased in both fasting (from 80% to 65% patients) and postprandial state (from 80% to 60% patients), respectively after the surgery. The most common GI symptoms reported prior to the surgery were constipation 95%, difficulty with defecation 85% and dysphagia 50%. After STN-DBS all gastrointestinal symptoms improved, the greatest improvement was observed in difficulty with defecation.Our results suggest that STN-DBS improves gastric motility as well as gastrointestinal symptoms in PD. Further studies of gastrointestinal motility in PD are warranted.

Published
2016

45. Assessments of plasma acyl-ghrelin levels in Parkinson’s disease patients treated with deep brain stimulation

Author

Wojciech Pietraszko, Krzysztof Gil, Borys Kwinta, Agata Furgała, Jolanta Kaszuba-Zwoińska, Urszula Fiszer, Anna Krygowska-Wajs, Jarosław Polak, and Agnieszka Gorecka-Mazur

Subjects
medicine.medical_specialty, Parkinson's disease, Deep brain stimulation, Physiology, medicine.medical_treatment, 030209 endocrinology & metabolism, Body weight, Biochemistry, Gastroenterology, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Endocrinology, Internal medicine, Medicine, Acyl ghrelin, Fasting state, business.industry, digestive, oral, and skin physiology, medicine.disease, nervous system diseases, Subthalamic nucleus, surgical procedures, operative, Postprandial, nervous system, Ghrelin, business, therapeutics, 030217 neurology & neurosurgery
Abstract

Gastrointestinal dysfunction is the most common non-motor symptom in Parkinson’s disease (PD) with rates rising as the disease progresses. Deep brain stimulation of subthalamic nucleus (STN DBS) improves motor functions in advanced PD. However, the effect of STN DBS on ghrelin concentration and consequently on motility disturbances as well as body weight is unclear. The objective of this study was to assess acyl-ghrelin levels in comparison to weight in advanced PD patients treated with STN DBS. Plasma concentrations of acyl-ghrelin was measured in 29 PD patients in the fasting state and at 30, 60, 120, and 180 min after a standard meal preoperatively and 3 months after surgery. The level of acyl-ghrelin in PD patients were compared with 30 age and sex-matched healthy controls. We reported that mean plasma acyl-ghrelin levels were decreased in PD patients before STN DBS in fasting (p = 0.0003) and in 30 min postprandial phase (p = 0.04) compared with healthy controls. The plasma acyl-ghrelin levels after STN DBS increased in pre-prandial and postprandial phase in PD patients at the investigated time points. Body weight gained on average 2.33 kg during the first 3 months after surgery. There was no correlation between the acyl-ghrelin plasma levels and BMI. After STN DBS in fasting and postprandial phase plasma acyl-ghrelin levels were increased. The results showed that STN DBS therapy elicited a modification of ghrelin levels, increasing its concentration in pre- and postprandial state. In addition, body weight was increased during 3 months after surgery.

Published
2020

48. [Evaluation of heart rate and blood pressure variability in Parkinson's disease patients after bilateral subthalamic deep brain stimulation]

Author

Agata, Furgała, Agnieszka, Górecka-Mazur, Urszula, Fiszer, Wojciech, Pietraszko, Piotr, Thor, Marek, Moskała, Katarzyna, Potasz, Magdalena, Bukowczan, Jarosław, Polak, and Anna, Krygowska-Wajs

Subjects
Adult, Male, Heart Rate, Subthalamic Nucleus, Deep Brain Stimulation, Humans, Blood Pressure, Female, Parkinson Disease, Middle Aged, Aged
Abstract

Autonomic dysfunctions are the most common non-motor symptoms of Parkinson's disease (PD) and often precede the motor symptoms of the disease. Autonomic dysfunction may be a dominant symptom of the advanced stages of PD as well as a major cause of patient disability. Despite the wide use of neurostimulation in clinical practice, the effect of deep brain stimulation of subthalamic nucleus (STN DBS) on autonomic symptoms of PD still remains only partially understood. The aim of the study is evaluation of heart rate variability (HRV) and blood pressure variability (BPV) in patients with PD before STN DBS and following bilateral STN DBS.The study included 25 subjects aged between 31 and 71 years, diagnosed with the idiopathic PD and selected for treatment with STN DBS. All the patients were in advanced stages of PD, disease duration ranged from 5 to 22 years. The patients enrolled into this study underwent STN DBS. Neurological examination including assessment of the severity of parkinsonism according to UPDRS scale, a psychological examination and an electrophysiological examination of autonomic disturbances based on heart rate and blood pressure variability were conducted on all patients two weeks before and three months after STN DBS.After STN DBS an improvement in terms of the analyzed parts of the UPDRS has been shown. The improvement of motor disorders assessed by III part UPDRS during the "off" medication/stimulation "on" was 67.8%. Orthostatic hypotension before the STN DBS procedure was observed in 56% of patients and after STN DBS in 53% of them. Before STN DBS the imbalance of the sympathetic--parasympathetic components with the predominance of the sympathetic based on HRV parameters--the ratio LF/HF-RRI (2.5) and a higher rate of LFnu (61.3%) than HFnu (38.6%) has been shown. Three months post STN DBS an increase parameters of spectral analysis of HRV in the low frequency LF-RRI, and high-frequency HF-RRI and the total power spectrum PSD-RRI was observed. After STN DBS an increase of parameters of spectral analysis of systolic BPV, very low frequency VLF-sBP, low frequency LF-sBP and total power spectrum PSD-sBP was noted.Results of the study suggest that STN DBS is an effective treatment method of both motor symptoms and autonomic dysfunctions. The disturbances of HRV and BPV before and after STN DBS indicate the increase of autonomic system activity with sympathetic dominance.

Published
2016

50. The influence of electrical stimulation of vagus nerve on elemental composition of dopamine related brain structures in rats

Author

Mateusz Bukowczan, Piotr J Thor, Ivo Zizak, Anna Krygowska-Wajs, Agata Ziomber, Pawel Wrobel, and Magdalena Szczerbowska-Boruchowska

Subjects
Male, medicine.medical_specialty, Dopamine, Central nervous system, Substantia nigra, Stimulation, Striatum, Nucleus accumbens, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Internal medicine, medicine, Animals, 030304 developmental biology, Brain Chemistry, 0303 health sciences, Chemistry, Spectrometry, X-Ray Emission, Parkinson Disease, Vagus Nerve, Cell Biology, Anatomy, Elements, Immunohistochemistry, Electric Stimulation, Rats, Trace Elements, Vagus nerve, medicine.anatomical_structure, Endocrinology, Dorsal motor nucleus, nervous system, Data Interpretation, Statistical, 030217 neurology & neurosurgery, medicine.drug
Abstract

Recent studies of Parkinson's disease indicate that dorsal motor nucleus of nerve vagus is one of the earliest brain areas affected by alpha-synuclein and Lewy bodies pathology. The influence of electrical stimulation of vagus nerve on elemental composition of dopamine related brain structures in rats is investigated. Synchrotron radiation based X-ray fluorescence was applied to the elemental micro-imaging and quantification in thin tissue sections. It was found that elements such as P, S, Cl, K, Ca, Fe, Cu, Zn, Se, Br and Rb are present in motor cortex, corpus striatum, nucleus accumbens, substantia nigra, ventral tectal area, and dorsal motor nucleus of vagus. The topographic analysis shows that macro-elements like P, S, Cl and K are highly concentrated within the fiber bundles of corpus striatum. In contrast the levels of trace elements like Fe and Zn are the lowest in these structures. It was found that statistically significant differences between the animals with electrical stimulation of vagus nerve and the control are observed in the left side of corpus striatum for P (p = 0.04), S (p = 0.02), Cl (p = 0.05), K (p = 0.02), Fe (p = 0.04) and Zn (p = 0.02). The mass fractions of these elements are increased in the group for which the electrical stimulation of vagus nerve was performed. Moreover, the contents of Ca (p = 0.02), Zn (p = 0.07) and Rb (p = 0.04) in substantia nigra of right hemisphere are found to be significantly lower in the group with stimulation of vagus nerve than in the control rats.

Published
2012

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