Article
Clinical Neurology
Dongxiao Liang, Yuwen Zhao, Hongxu Pan, Xun Zhou, Runcheng He, Xiaoxia Zhou, Jinxia Yang, Yige Wang, Xiaoting Zhou, Zhou Zhou, Qian Xu, Xinxiang Yan, Jinchen Li, Jifeng Guo, Beisha Tang, Qiying Sun
Summary: The study systematically investigated a potential association between rare coding variants in ET-associated genes and PD in a relatively large Chinese population cohort. The results suggest that rare loss-of-function and damaging missense variants of TNEM4 may be associated with early-onset PD, providing new evidence for a genetic link between ET and PD.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Review
Neurosciences
Iryna Kamienieva, Jerzy Duszynski, Joanna Szczepanowska
Summary: The familial form of Parkinson's disease is linked to mutations in specific genes, with mutations in the parkin gene being one of the most common causes of early-onset PD. Mitochondrial dysfunction is an emerging active player in the pathology of neurodegenerative diseases, as mitochondria are highly dynamic structures integrated with many cellular functions.
TRANSLATIONAL NEURODEGENERATION
(2021)
Article
Neurosciences
Li-Hua Yu, Guo-Ping Peng, Yuan Yuan, Xiao-Yan Liu, Fang Ji, Yi Li, Fang-Ping He, Ben-Yan Luo, Qing Ke
Summary: This study reported two cases of compound heterozygous mutations in PARKIN in early-onset Parkinson's disease (EOPD) patients. The differences in genotypes of PARKIN between the two patients resulted in significant clinical phenotypic variations, providing important insights for the diagnosis and treatment of EOPD.
NEUROSCIENCE LETTERS
(2021)
Article
Clinical Neurology
Roberta Bovenzi, Matteo Conti, Giulia Rebecca Degoli, Rocco Cerroni, Carlo Alberto Artusi, Mariangela Pierantozzi, Alessandro Stefani, Nicola Biagio Mercuri, Tommaso Schirinzi
Summary: This study investigated the reproductive factors and disease impact in six PRKN-PD patients and reviewed the reproductive and pregnancy course in nine PRKN-PD patients. The results showed that female PRKN-PD patients experienced motor fluctuations during the menstrual cycle, pregnancy, and puerperium, suggesting a role for sex hormones in PD clinical symptoms. For pregnant patients, levodopa/benserazide monotherapy was the safest choice.
NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Ida Jensen, Corinna Hendrich, Martin Klietz, Georg Berding, Guenter U. Hoeglinger, Florian Wegner
Summary: This article reports a case of a 35-year-old male patient with early-onset Parkinson's disease (EOPD) caused by compound heterozygous deletions in the Parkin gene (PRKN), presenting with atypical clinical symptoms. After 8 years of untreated disease progression, the patient was admitted for a second opinion and ultimately diagnosed through genetic analysis.
FRONTIERS IN NEUROLOGY
(2022)
Article
Medicine, General & Internal
Diana A. Olszewska, Allan McCarthy, Alexandra Soto-Beasley, Ronald L. Walton, Owen A. Ross, Tim Lynch
Summary: In Irish PD patients, PINK1 and DJ1 are rarely associated with early-onset Parkinson's disease, while the frequency of PARKIN variants carriers is similar to worldwide reports.
IRISH JOURNAL OF MEDICAL SCIENCE
(2022)
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)
Editorial Material
Clinical Neurology
Maike F. Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Smigiel, Alka Malhotra, Donald Basel, Ingrid van de Laar, Rinze Frederik Neuteboom, Coranne Aarts-Tesselaar, Sonal Mahida, Nicola Brunetti-Pierri, Ryan J. Taft, Stephan Zuchner
Summary: This study identified five unrelated children with intellectual disability, spasticity, and peripheral neuropathy carrying heterozygous ATP1A1 variants. The variants led to loss of ATPase function and were associated with additional symptoms such as sensory loss, sleep disturbances, and seizures. These de novo variants had high pathogenicity prediction scores and replicated the haploinsufficiency mechanism of disease.
Article
Geriatrics & Gerontology
Xiaojing Gu, Yanbing Hou, Yongping Chen, Ruwei Ou, Bei Cao, Qianqian Wei, Lingyu Zhang, Wei Song, Bi Zhao, Ying Wu, Chunyu Li, Huifang Shang
Summary: This study identified rare variants in E3 ubiquitin ligase genes that may be associated with early onset Parkinson's disease, highlighting the importance of the ubiquitin-proteasome system in the pathogenesis of PD from the genetic perspective. The findings also expanded the spectrum of susceptible genes for PD.
NEUROBIOLOGY OF AGING
(2022)
Article
Medicine, General & Internal
Jan-Bernd Funcke, Barbara Moepps, Julian Roos, Julia von Schnurbein, Kenneth Verstraete, Elke Froehlich-Reiterer, Katja Kohlsdorf, Adriana Nunziata, Stephanie Brandt, Alexandra Tsirigotaki, Ann Dansercoer, Elisabeth Suppan, Basma Haris, Klaus-Michael Debatin, Savvas N. Savvides, I. Sadaf Farooqi, Khalid Hussain, Peter Gierschik, Pamela Fischer-Posovszky, Martin Wabitsch
Summary: This article describes two novel homozygous leptin variants that caused intense hyperphagia, severe obesity, and high leptin levels in two unrelated children. These variants bind to the leptin receptor but have marginal signaling. In the presence of nonvariant leptin, they act as competitive antagonists. High-dose recombinant leptin treatment was initiated and gradually reduced, resulting in near-normal weight for both patients. Antidrug antibodies developed in the patients, but did not appear to affect efficacy. No severe adverse events were observed.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Zachary T. Yoneda, Katherine C. Anderson, Fei Ye, Joseph A. Quintana, Matthew J. O'Neill, Richard A. Sims, Lili Sun, Andrew M. Glazer, Giovanni Davogustto, Majd El-Harasis, James L. Laws, Brittany N. Saldivar, Diane M. Crawford, Thomas Stricker, Quinn Wells, Dawood Darbar, Gregory F. Michaud, Lynne W. Stevenson, Steven A. Lubitz, Patrick T. Ellinor, Dan M. Roden, M. Benjamin Shoemaker
Summary: This study assessed the association between rare variants in cardiomyopathy and arrhythmia genes and time to death in patients with early-onset atrial fibrillation (AF). The findings suggest that disease-associated variants may be associated with increased mortality risk, especially in those diagnosed at a younger age.
Article
Clinical Neurology
Jose A. Pineda-Pardo, Alvaro Sanchez-Ferro, Mariana H. G. Monje, Nicola Pavese, Jose A. Obeso
Summary: The striatal dopaminergic deficit in Parkinson's disease follows a somatotopically related pattern, with an upper-limb onset and progression to other regions of the striatum. The denervation of the putamen was confirmed in both hemispheres and corresponding hemibodies. The findings suggest a precise somatotopic onset of nigrostriatal denervation in Parkinson's disease.
Article
Biochemistry & Molecular Biology
Rana Abu Manneh, Paraskevi P. Chairta, Ellie Mitsi, Maria A. Loizidou, Andrea N. Georgiou, Yiolanda P. Christou, Marios Pantzaris, Eleni Zamba-Papanicolaou, Andreas Hadjisavvas
Summary: Parkinson's Disease (PD) is a complex neurodegenerative disease with unclear etiology. This study aimed to investigate the genetic landscape of early-onset PD (EOPD) in the Greek-Cypriot population and identified several pathogenic variants associated with EOPD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Isaira Almeida Pereira da Silva Nascimento, Katia Cirilo Costa Nobrega, Bruno Rafael Antunes Souza, Isabela Carneiro Barone, Giovanna Checchio, Vitoria Pereira Ponciano, Clara Greif Cerveira de Paula, Arieni Nunes Possani, Natalia Cardoso Penha, Andre Frazao Helene, Antonio Carlos Roque, Rodolfo Savica, Maria Elisa Pimentel Piemonte
Summary: This study compares disability levels between early-onset Parkinson's disease (EOPD) and late-onset Parkinson's disease (LOPD) using the World Health Organization Disability Assessment Schedule 2.0 (WHODAS-2). The results show that LOPD patients have higher disability levels in cognition and activities of daily living related to work/school, while EOPD patients have higher disability levels in work activities.
FRONTIERS IN NEUROLOGY
(2023)
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
Jaromir Hanuska, Jan Rusz, Ondrej Bezdicek, Olga Ulmanova, Cecilia Bonnet, Petr Dusek, Veronika Ibarburu, Tomas Nikolai, Tomas Sieger, Karel Sonka, Evzen Ruzicka
JOURNAL OF SLEEP RESEARCH
(2019)
Article
Clinical Neurology
Pavel Dusek, David Skoloudik, Jan Roth, Petr Dusek
Article
Multidisciplinary Sciences
Ali Hashemi Gheinani, Mike Vogeli, Ulrich Baumgartner, Erik Vassella, Annette Draeger, Fiona C. Burkhard, Katia Monastyrskaya
SCIENTIFIC REPORTS
(2018)
Article
Neurosciences
Karsten Mueller, Robert Jech, Tommaso Ballarini, Stefan Holiga, Filip Ruzicka, Fabian A. Piecha, Harald E. Moeller, Josef Vymazal, Evzen Ruzicka, Matthias L. Schroeter
Article
Clinical Neurology
Mayke Oosterloo, Emilia Bijlsma, Sander van Kuijk, Floor Minkes, Raymund Roos, C. E. M. de Die-Smulders
PARKINSONISM & RELATED DISORDERS
(2019)
Article
Neuroimaging
Tommaso Ballarini, Karsten Mueller, Franziska Albrecht, Filip Ruzicka, Ondrej Bezdicek, Evzen Ruzicka, Jan Roth, Josef Vymazal, Robert Jech, Matthias L. Schroeter
NEUROIMAGE-CLINICAL
(2019)
Article
Psychology, Clinical
Ondrej Bezdicek, Tommaso Ballarini, Herman Buschke, Filip Ruzicka, Jan Roth, Franziska Albrecht, Evzen Ruzicka, Karsten Mueller, Matthias L. Schroeter, Robert Jech
Article
Neurosciences
L. Brabcova, J. Roth, O. Ulmanova, J. Rusz, J. Klempir, O. Horacek, M. Kolarova, P. Koskova, P. Rolkova, H. Bozkova, L. Sabo, M. Inemanova, K. Lisalova, F. Jancok, E. Ruzicka, H. Brozova
CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE
(2019)
Article
Clinical Neurology
Rotem Dan, Filip Ruzicka, Ondrej Bezdicek, Jan Roth, Evzen Ruzicka, Josef Vymazal, Gadi Goelman, Robert Jech
EUROPEAN NEUROPSYCHOPHARMACOLOGY
(2019)
Article
Psychology, Clinical
Filip Havlik, Josef Mana, Petr Dusek, Robert Jech, Evzen Ruzicka, Miloslav Kopecek, Hana Georgi, Ondrej Bezdicek
JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY
(2020)
Article
Clinical Neurology
Petr Holly, Tereza Duspivova, David Kemlink, Olga Ulmanova, Jan Rusz, Radim Krupicka, Robert Jech, Evzen Ruzicka
Summary: This study aimed to investigate which clinical and instrumental methods could best differentiate head tremor in patients with essential tremor (ET) and cervical dystonia (CD). The results showed that patients with head tremor had higher TETRAS and SARA scores, with no significant difference in mild head tremor subscores between the ET and CD groups. Head tremor disappeared when patients were in the supine position, and the STDT values were significantly higher in the group with head tremor.
PARKINSONISM & RELATED DISORDERS
(2023)
Article
Clinical Neurology
Christiane Mala, Filip Havlik, Josef Mana, Jiri Nepozitek, Simona Dostalova, Evzen Ruzicka, Karel Sonka, Jiri Keller, Robert Jech, Petr Dusek, Ondrej Bezdicek, Radim Krupicka
Summary: There have been very few studies on the structural changes and their association with cognitive performance in isolated REM sleep behaviour disorder (iRBD), and the results are inconclusive. This study aims to evaluate the differences in the associations between brain morphology and cognitive tests in iRBD and healthy controls.
NEUROLOGICAL SCIENCES
(2023)
Meeting Abstract
Clinical Neurology
P. Havrankova, A. Rezkova, M. Fialova, M. Forgac, J. Roth, R. Jech
EUROPEAN JOURNAL OF NEUROLOGY
(2018)
Article
Biochemistry & Molecular Biology
P. Dusek, M. Rodinova, I. Liskova, J. Klempir, J. Zeman, J. Roth, H. Hansikova
Article
Neurosciences
Paul McNulty, Richard Pilcher, Raviram Ramesh, Renata Necuiniate, Alis Hughes, Daniel Farewell, Peter Holmans, Lesley Jones
JOURNAL OF HUNTINGTONS DISEASE
(2018)