Article
Geriatrics & Gerontology
Monica Gagliardi, Radha Procopio, Mariagrazia Talarico, Andrea Quattrone, Gennarina Arabia, Maurizio Morelli, Marco D'Amelio, Donatella Malanga, Giuseppe Bonapace, Aldo Quattrone, Grazia Annesi
Summary: Recently, a novel pathogenic variant in Annexin A1 protein has been identified in an Iranian family with autosomal recessive Parkinsonism. This study aimed to identify rare ANXA1 variants in early-onset PD patients from South Italy. However, sequencing analysis revealed only 2 synonymous variants, suggesting that the recently published ANXA1 mutation is not a common cause of EOPD in Southern Italy.
NEUROBIOLOGY OF AGING
(2023)
Article
Clinical Neurology
Jannik Prasuhn, Meike Kasten, Melissa Vos, Inke R. Koenig, Sebastian M. Schmid, Britta Wilms, Christine Klein, Norbert Brueggemann
Summary: This study aims to investigate the potential effects of vitamin K2 on genetically determined Parkinson's disease patients, using advanced neuroimaging methods and biomarker sampling. Patients are selected based on mutation-related mitochondrial dysfunction in a personalized medicine approach and the study will explore the predictive ability of neuroimaging and blood-derived biomarkers on individual treatment response in sporadic PD.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
Ruwei Ou, Qianqian Wei, Yanbing Hou, Lingyu Zhang, Kuncheng Liu, Xiangwei Kong, Shuying Li, Lan Wang, Xianran Xu, Xiaojing Gu, Junyu Lin, Zheng Jiang, Jiao Liu, Wei Song, Bei Cao, Huifang Shang
Summary: Patients with early-onset Parkinson's disease (EOPD) have a higher prevalence of suicidal ideation (SI) and depression, with risk factors including depression, non-smoking, and lower education level.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Suzanne Lesage, Graziella Mangone, Christelle Tesson, Helene Bertrand, Mustapha Benmahdjoub, Selma Kesraoui, Mohamed Arezki, Andrew Singleton, Jean-Christophe Corvol, Alexis Brice
Summary: Autosomal recessive early-onset parkinsonism is genetically heterogeneous, with mutations in genes like SYNJ1 leading to different clinical presentations and disease progression.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
J. Naisby, R. A. Lawson, B. Galna, L. Alcock, D. J. Burn, L. Rochester, A. J. Yarnall
Summary: Pain is a common non-motor symptom in Parkinson's disease, with unexplained pain being prevalent even in early stages. The frequency and type of pain fluctuates as symptoms progress, highlighting the importance of asking PD patients about their pain at clinical consultations and providing support in describing it.
JOURNAL OF NEUROLOGY
(2021)
Article
Medicine, Research & Experimental
Sarah A. Lechner, Heidi Kletzien, Stephen C. Gammie, Cynthia A. Kelm-Nelson
Summary: This study compared the gene expression in the TA muscle of Pink1-/- rats with wildtype controls, identifying differences in genes related to Parkinson's disease, Parkin-Ubiquitin proteasome degradation, MAPK signaling, and inflammatory pathways. These findings may help evaluate specific mechanisms of peripheral dysfunction and serve as experimental biomarkers for treatment development.
Article
Clinical Neurology
Sumeet Kumar, Masoom M. Abbas, Shyla T. Govindappa, Uday B. Muthane, Madhuri Behari, Sanjay Pandey, Ramesh C. Juyal, B. K. Thelma
Summary: In this study, two compound heterozygous variants in the WASL gene were found in a familial form of Parkinson's disease, showing potential functional relevance in neurons. The novel findings suggest WASL as a strong candidate gene for autosomal recessive PD and encourage further exploration of its contribution in different populations.
PARKINSONISM & RELATED DISORDERS
(2021)
Article
Clinical Neurology
Bradley McDaniels, Indu Subramanian, Shelley Kurian, Shilpa Chitnis
Summary: This study aimed to evaluate the unmet needs of people with early onset Parkinson's disease. The results showed that the most common five unmet needs of this population were the need for a community more like them, more PD information, information about how their PD will progress, help with mental health issues, and help with employment issues. The top unmet need for men was help with employment issues, for women was a community more like them, and for Hispanic/Latinos was more PD information.
PARKINSONISM & RELATED DISORDERS
(2023)
Review
Cell Biology
Daniel Aghaie Madsen, Sissel Ida Schmidt, Morten Blaabjerg, Morten Meyer
Summary: This review article examines the role of Parkin and alpha-synuclein in the pathophysiology of Parkinson's disease, particularly focusing on the PARK2 gene mutations causing early-onset PD and the interaction between parkin and alpha-synuclein in protein aggregation regulation. The study provides insights into the potential formation of intracellular micro-aggregates in PARK2-related PD, suggesting new avenues for research into primary signaling processes involved in PD and related neurodegenerative disorders.
Review
Medicine, General & Internal
Frank A. Sinicrope
Summary: Early-onset colorectal cancer, which accounts for 10% of cases, is increasing in incidence, particularly in high-income countries. Patients often present with advanced disease in the left colon, and one in six patients has deficient DNA mismatch repair. Screening is recommended to begin at 45 years of age.
NEW ENGLAND JOURNAL OF MEDICINE
(2022)
Article
Clinical Neurology
Lukasz M. Milanowski, Olajumoke Oshinaike, Benjamin J. Broadway, Jennifer A. Lindemann, Alexandra Soto-Beasley, Ronald L. Walton, Rana Hanna Al-Shaikh, Audrey J. Strongosky, Fabienne C. Fiesel, Owen A. Ross, Wolfdieter Springer, Shamsideen Abayomi Ogun, Zbigniew K. Wszolek
Summary: This study screened 109 Nigerian patients with Parkinson disease, including a small cohort of early-onset PD cases, for various gene mutations. Discovered variants in EOPD patients, but no homozygous or compound heterozygous carriers were found. The study emphasizes the need for more research on age-related neurodegenerative diseases in sub-Saharan African countries.
FRONTIERS IN NEUROLOGY
(2021)
Article
Neurosciences
Chun Yu Li, Ru Wei Ou, Yong Ping Chen, Xiao Jing Gu, Qian Qian Wei, Bei Cao, Ling Yu Zhang, Yan Bing Hou, Kun Cheng Liu, Xue Ping Chen, Wei Song, Bi Zhao, Ying Wu, Yi Liu, Hui Fang Shang
Summary: Functional and genetic studies have identified associations between several Zinc finger (ZNF) proteins and Parkinson's disease (PD). Rare variants in ZNF746 and ZNF219 were significantly associated with early-onset PD (EOPD), indicating a potential genetic link between these ZNF genes and PD. This study provides new insights into the genetic role of ZNFs in EOPD and expands the understanding of mutation spectrum in PD.
MOLECULAR NEUROBIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Kathryn J. C. Watt, Richard M. Meade, Robert J. Williams, Jody M. Mason
Summary: This study identified five peptides that have inhibitory effects on the aggregation of Parkinson's disease (PD) related protein variants. These peptides not only reduce the aggregation of PD-associated proteins, but also show the same efficacy when incubated with other variants. Additionally, the optimized peptide 4554W(N6A) is highly effective against wild-type protein and several single-point mutant forms, providing a suitable baseline for further PD therapeutic research.
ACS CHEMICAL NEUROSCIENCE
(2022)
Article
Neurosciences
Qi Liu, Bin Jiang, Min Zou, Zi-Wen Yu, Jing Wang, Chu-Chuan Xu, Si-Ning Lin, Kun-Mu Zheng, Nai-An Xiao, Min Bi, Jian-Peng Li
Summary: This study investigated the genetic spectrum and clinical phenotypic spectrum of EOPD patients in Chinese population. The most common causative gene was found to be PLA2G6, and detailed clinical features were presented.
NEUROSCIENCE LETTERS
(2022)
Article
Clinical Neurology
Markus Gschwind, Nuria Garcia Segarra, Andre Schaller, Ramona Bolognini, Jean-Marc Nuoffer, Raphael Hourez, Manuel Deprez, Benoit Lhermitte, Philippe Maeder, Christel Tran, Thierry Kuntzer
Summary: This article presents a patient with spastic paraplegia and ataxia, which lasted for 40 years and eventually led to death due to postinfectious lactic acidosis. Various diagnostic methods revealed the patient had a biallelic variant of the NDUFV1 gene, causing necrotizing leukoencephalomyelopathy. This case extends the understanding of NDUFV1 variants and highlights the need for awareness of respiratory chain diseases in adult patients with sudden deteriorating neurological deficits.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2022)
Article
Clinical Neurology
Antonietta Coppola, Elena Cellini, Hannah Stamberger, Elmo Saarentaus, Valentina Cetica, Dennis Lal, Tania Djemie, Magdalena Bartnik-Glaska, Berten Ceulemans, J. Helen Cross, Tine Deconinck, Salvatore De Masi, Thomas Dorn, Renzo Guerrini, Dorotha Hoffman-Zacharska, Frank Kooy, Lieven Lagae, Nicholas Lench, Johannes R. Lemke, Ersilia Lucenteforte, Francesca Madia, Heather C. Mefford, Deborah Morrogh, Peter Nuernberg, Aarno Palotie, An-Sofie Schoonjans, Pasquale Striano, Elzbieta Szczepanik, Anna Tostevin, Joris R. Vermeesch, Hilde Van Esch, Wim Van Paesschen, Jonathan J. Waters, Sarah Weckhuysen, Federico Zara, Peter De Jonghe, Sanjay M. Sisodiya, Carla Marini, Anna-Elina Lehesjioki, Dana Craiu, Tiina Talvik, Hande Caglayan, Jose Serratosa, Katalin Sterbova, Rikke S. Moller, Helle Hjalgrim, Holger Lerche, Yvonne Weber, Ingo Helbig, Sarah von Spiczak, Carmen Barba, Anneleen Bogaerts, Antonella Boni, Elisabeth Caruana Galizia, Sara Chiari, Claudia Clementella, Gianpiero Di Gacomo, Annarita Ferrari, Silvia Guarducci, Sabrina Giglio, Philip Holmgren, Costin Leu, Francesco Mari, Federico Melani, Francesca Novara, Marilena Pantaleo, Elke Peeters, Tiziana Pisano, Anna Rosati, Josemir Sander, Natasha Schoeler, Pawel Stankiewicz, Salvatore Striano, Arvid Suls, Monica Traverso, Geert Vandeweyer, Anke Van Dijck, Orsetta Zuffardi
Article
Clinical Neurology
Alison M. Muir, Candace T. Myers, Nancy T. Nguyen, Julia Saykally, Dana Craiu, Peter De Jonghe, Ingo Helbig, Dorota Hoffman-Zacharska, Renzo Guerrini, Anna-Elina Lehesjoki, Carla Marini, Rikke S. Moller, Jose Serratosa, Katalin Sterbova, Pasquale Striano, Sarah von Spiczak, Sarah Weckhuysen, Heather C. Mefford
Article
Rehabilitation
Christina Marciniak, Michael C. Munin, Allison Brashear, Bruce S. Rubin, Atul T. Patel, Jaroslaw Slawek, Angelika Hanschmann, Reinhard Hiersemenzel, Elie P. Elovic
Article
Biotechnology & Applied Microbiology
J. Sawicka, A. Kutkowska-Kazmierczak, K. Wozniak, A. Tysarowski, K. Osipowicz, J. Poznanski, A. M. Rygiel, N. Braun-Walicka, K. Niepokoj, J. Bal, C. Kowalewski, K. Wertheim-Tysarowska
JOURNAL OF APPLIED GENETICS
(2020)
Article
Clinical Neurology
Lukasz Milanowski, Dorota Hoffman-Zacharska, Maciej Geremek, Andrzej Friedman, Monika Figura, Dariusz Koziorowski
JOURNAL OF CLINICAL NEUROSCIENCE
(2020)
Article
Clinical Neurology
Wolfgang H. Jost, Laurent Tatu, Sanjay Pandey, Jaroslaw Slawek, Artur Dru(z) over dotd(z) over dot, Bo Biering-Sorensen, Christian F. Altmann, Alexandre Kreisler
JOURNAL OF NEURAL TRANSMISSION
(2020)
Article
Clinical Neurology
Wolfgang H. Jost, Andrzej Friedman, Olaf Michel, Christian Oehlwein, Jaroslaw Slawek, Andrzej Bogucki, Stanislaw Ochudlo, Marta Banach, Fernando Pagan, Birgit Flatau-Baque, Ulrike Dorsch, Janos Csikos, Andrew Blitzer
PARKINSONISM & RELATED DISORDERS
(2020)
Article
Clinical Neurology
Shan Tang, Laura Addis, Anna Smith, Simon D. Topp, Manuela Pendziwiat, Davide Mei, Alasdair Parker, Shakti Agrawal, Elaine Hughes, Karine Lascelles, Ruth E. Williams, Penny Fallon, Robert Robinson, Helen J. Cross, Tammy Hedderly, Christin Eltze, Tim Kerr, Archana Desurkar, Nahin Hussain, Maria Kinali, Irene Bagnasco, Grace Vassallo, William Whitehouse, Sushma Goyal, Michael Absoud, Rikke S. Moller, Ingo Helbig, Yvonne G. Weber, Carla Marini, Renzo Guerrini, Michael A. Simpson, Deb K. Pal
Article
Behavioral Sciences
Anna Winczewska-Wiktor, Dorota Hoffman-Zacharska, Monika Starczewska, Izabela Kaczmarek, Magdalena Badura-Stronka, Barbara Steinborn
EPILEPSY & BEHAVIOR
(2020)
Article
Genetics & Heredity
Dennis Lal, Patrick May, Eduardo Perez-Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise B. Robinson, Rikke S. Moller, Roland Krause, Peter Nuernberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa M. Niestroj, Juliana Du, Carla Marini, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P. C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly
Article
Clinical Neurology
Tariq Zaman, Katherine L. Helbig, Jerome Clatot, Christopher H. Thompson, Seok Kyu Kang, Katrien Stouffs, Anna E. Jansen, Lieve Verstraete, Adeline Jacquinet, Elena Parrini, Renzo Guerrini, Yuh Fujiwara, Satoko Miyatake, Bruria Ben-Zeev, Haim Bassan, Orit Reish, Daphna Marom, Natalie Hauser, Thuy-Anh Vu, Sally Ackermann, Careni E. Spencer, Natalie Lippa, Shraddha Srinivasan, Agnieszka Charzewska, Dorota Hoffman-Zacharska, David Fitzpatrick, Victoria Harrison, Pradeep Vasudevan, Shelagh Joss, Daniela T. Pilz, Katherine A. Fawcett, Ingo Helbig, Naomichi Matsumoto, Jennifer A. Kearney, Andrew E. Fry, Ethan M. Goldberg
ANNALS OF NEUROLOGY
(2020)
Article
Clinical Neurology
Anna I. Wernick, Ronald L. Walton, Alexandra I. Soto-Beasley, Shunsuke Koga, Michael G. Heckman, Rebecca R. Valentino, Lukasz M. Milanowski, Dorota Hoffman-Zacharska, Dariusz Koziorowski, Anhar Hassan, Ryan J. Uitti, William P. Cheshire, Wolfgang Singer, Zbigniew K. Wszolek, Dennis W. Dickson, Phillip A. Low, Owen A. Ross
Summary: The occurrence of longer TBP CAG/CAA repeat alleles (>38 repeats) is significantly associated with an increased risk of multiple system atrophy, suggesting a possible genetic overlap between multiple system atrophy and SCA17.
CLINICAL AUTONOMIC RESEARCH
(2021)
Review
Clinical Neurology
Lukasz M. Milanowski, Owen A. Ross, Andrzej Friedman, Dorota Hoffman-Zacharska, Paulina Gorka-Skoczylas, Marta Jurek, Dariusz Koziorowski, Zbigniew K. Wszolek
Summary: This study summarised the genetic causes of Parkinson's disease in the Polish population, identifying pathogenic variants in four monogenic genes and eight genes associated with PD risk. The discovery of SNCA duplication in a Polish PD patient highlights the importance of reporting genetic findings in specific populations for personalized medicine.
NEUROLOGIA I NEUROCHIRURGIA POLSKA
(2021)
Article
Clinical Neurology
Lukasz M. Milanowski, Jennifer A. Lindemann, Dorota Hoffman-Zacharska, Alexandra Soto-Beasley, Maria Barcikowska, Magdalena Boczarska-Jedynak, Angela Deutschlander, Gabriela Klodowska, Jaroslaw Dulski, Lyuda Fedoryshyn, Andrzej Friedman, Zygmunt Jamrozik, Piotr Janik, Katherine Karpinsky, Dariusz Koziorowski, Anna Krygowska-Wajs, Barbara Jasinska-Myga, Grzegorz Opala, Anna Potulska-Chromik, Aleksander Pulyk, Irena Rektorova, Yanosh Sanotsky, Joanna Siuda, Katarzyna Smilowska, Lech Szczechowski, Monika Rudzinska-Bar, Ronald L. Walton, Owen A. Ross, Zbigniew K. Wszolek
Summary: The study analyzed the frequency of PRKN, PINK1, and DJ1 mutations in early-onset Parkinson's disease patients from four neighboring European countries and found that mutations in these genes were not frequently observed in the analyzed cohorts.
PARKINSONISM & RELATED DISORDERS
(2021)
Article
Biochemistry & Molecular Biology
Lukasz M. Milanowski, Xu Hou, Jenny M. Bredenberg, Fabienne C. Fiesel, Liam T. Cocker, Alexandra 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, Zbigniew K. Wszolek
Summary: This study identified a potential genetic cause of Parkinson's disease in two affected siblings. However, functional analysis of patient-derived fibroblasts did not reveal significant changes, suggesting that the CTSB gene may harbor variants with different penetrance that can determine disease risk.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Jun-Pyo Hong, Hanim Kwon, Euyhyun Park, Sun-Uk Lee, Chan-Nyoung Lee, Byung-Jo Kim, Ji-Soo Kim, Kun-Woo Park
Summary: In patients with mild-to-moderate PD, vestibular function assessed by video head-impulse tests appears relatively preserved and has minimal impact on the risk of falls. Risk of postural instability is associated with the severity of clinical symptoms in PD.
PARKINSONISM & RELATED DISORDERS
(2024)
Article
Clinical Neurology
Yaqin Xiang, XiuRong Huang, Qian Xu, Zhenhua Liu, Yase Chen, Qiying Sun, Junling Wang, Hong Jiang, Lu Shen, Xinxiang Yan, Beisha Tang, Jifeng Guo
Summary: Using the novel data-driven method DEBM, this study determined the sequence of several common biomarker changes in Parkinson's disease (PD). The left putamen was found to be the earliest biomarker to become abnormal, followed by the right putamen, CSF alpha-synuclein, right caudate, left caudate, and serum NfL. The estimated disease stages showed significant differences between PD and healthy controls, and achieved a high accuracy for distinguishing PD from HC.
PARKINSONISM & RELATED DISORDERS
(2024)
Article
Clinical Neurology
Yan Li, David J. McLernon, Carl E. Counsell, Angus D. Macleod
Summary: This study aimed to investigate the incidence and risk factors for institutionalisation in Parkinson's disease (PD) and atypical parkinsonism (AP). The study found that institutionalisation was more frequent in AP compared to PD and controls. Age, poorer cognition, and more-severe parkinsonian impairment were independent predictors of institutionalisation.
PARKINSONISM & RELATED DISORDERS
(2024)