Review
Health Care Sciences & Services
Gyrid Nygaard, Peter D. Szigetvari, Ann Kari Grindheim, Peter Ruoff, Aurora Martinez, Jan Haavik, Rune Kleppe, Marte Flydal
Summary: Dopa-responsive dystonia (DRD) is a rare movement disorder linked to defective dopamine synthesis, mainly associated with mutations in the GCH1 gene. However, some patients do not respond well to L-DOPA treatment, especially in severe cases of TH deficiency. This highlights the need for more effective and personalized treatment options.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Clinical Neurology
Xin-yao Li, Ying-mai Yang, Li-bo Li, Meng-yu Zhang, Yang-yu Huang, Jie Wang, Lin Wang, Xin-hua Wan
Summary: This study summarized the clinical characteristics and long-term outcomes in patients with dopa-responsive dystonia who were treated with levodopa. Most patients showed satisfactory treatment outcomes after long-term levodopa, while a few patients with specific variants developed new motor symptoms, possibly due to dopamine insufficiency. Increasing levodopa dose slowly may be helpful for patients with motor symptoms after long-term treatment.
FRONTIERS IN NEUROLOGY
(2021)
Article
Genetics & Heredity
Yilin Wang, Chunmei Wang, Meiyan Liu, Wuhen Xu, Simei Wang, Fang Yuan, Xiaona Luo, Quanmei Xu, Rongrong Yin, Anqi Wang, Miao Guo, Longlong Lin, Chao Wang, Hongyi Cheng, Zhiping Liu, Yuanfeng Zhang, Fanyi Zeng, Jingbin Yan, Yucai Chen
Summary: This study analyzed the clinical data of seven Segawa syndrome patients and found that three patients had the same homozygous mutation in the TH gene as previously reported, while two new mutations were found in other patients. Real-time quantitative polymerase chain reaction analysis showed that the TH gene expression was lower in two patients compared to normal controls, and the expression level was also lower in one mother. The study suggests that TH gene mutations may lead to Segawa syndrome by affecting dopamine and catecholamine production.
FRONTIERS IN GENETICS
(2022)
Article
Medicine, Research & Experimental
Alba Tristan-Noguero, Irene Fernandez-Carasa, Carles Calatayud, Cristina Bermejo-Casadesus, Meritxell Pons-Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo-Jimenez, Salvador Ibanez, Merce Pineda, Rafael Artuch, Angel Raya, Angels Garcia-Cazorla, Antonella Consiglio
Summary: This study used induced pluripotent stem cells (iPSCs) to generate dopaminergic neurons (DAn) from patients with tyrosine hydroxylase deficiency (THD) and compared them with control-DAn. THD iPSC-DAn showed lower levels of dopamine metabolites and reduced TH expression compared to controls. Additionally, THD iPSC-DAn displayed abnormal morphology and neuronal defects, which were rescued by L-Dopa treatment only in the milder form of THD (THD-A). Treatment at the stage of neuronal precursors could prevent the alterations in the severe form of THD (THD-B). This iPSC-based model recapitulates THD disease phenotypes and response to treatment.
EMBO MOLECULAR MEDICINE
(2023)
Article
Pathology
Meng-Chen Wu, Yung-Yee Chang, Min-Yu Lan, Ying-Fa Chen, Chun-Hwei Tai, Yung-Feng Lin, Shih-Feng Tsai, Pei-Lung Chen, Chin-Hsien Lin
Summary: This study identified the genetic causes of dystonia in an Asian population and provided insights into the genetic architecture and clinical spectrum of the disease.
JOURNAL OF MOLECULAR DIAGNOSTICS
(2022)
Article
Nanoscience & Nanotechnology
Qi Shang, Ling Zhang, Chan Chen, Weikang Tang, Mengqi Han, Qinfei Chen, Wenbin Liu
Summary: This study developed a nanozyme based on ethylenediaminetetraacetic acid (EDTA)-Fe2+ complex decorated Fe3O4 magnetic nanoparticles for biomimetic synthesis of L-DOPA. The nanozyme exhibited high catalytic performance, good reusability, and potential applications in the low-cost and high-efficiency production of L-DOPA.
ACS APPLIED NANO MATERIALS
(2022)
Article
Clinical Neurology
Anne Weissbach, Annika Steinmeier, Martje Pauly, Duha M. Al-Shorafat, Gerard Saranza, Anthony Lang, Norbert Brueggemann, Vera Tadic, Christine Klein, Alexander Muenchau, Tobias Baeumer, Matt J. N. Brown
Summary: This study examined sensorimotor inhibition in GCH1 mutation carriers and found that their short-latency afferent inhibition (SAI) and dual-site transcranial magnetic stimulation (ds-TMS) levels were not significantly different from the control group. However, SAI decreased over time in mutation carriers off dopamine replacement therapy (DRT). These results suggest changes in plasticity in the sensorimotor networks.
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Chemistry, Analytical
Pin-Chuan Chen, Kuan-Han Chen, Chun-Yi Lin, Yi-Chun Yeh
Summary: The study developed a low-cost, user-friendly on-site detection system for accurately determining the ratio of L-DOPA to L-tyrosine, essential for clinical diagnosis of TH deficiency. Multiple experiments demonstrated that the system can efficiently and rapidly quantify L-DOPA, L-tyrosine, and creatinine even in complex bio-matrix, showing high reliability and repeatability.
SENSORS AND ACTUATORS B-CHEMICAL
(2021)
Article
Pediatrics
Birendra Gurung, Tsultem Doma Bhutia, Subhash Chettri, Mahesh Kumar Mummadi, Vijay P. Bondre
Summary: This study investigated the clinical and investigational findings of patients with acute non-infectious encephalopathy in Sikkim between October 2019 and March 2021, and examined the effect of thiamine treatment on mortality. The results showed that thiamine treatment was significantly associated with reduced mortality, particularly in patients with bilateral basal ganglia involvement.
INDIAN JOURNAL OF PEDIATRICS
(2023)
Editorial Material
Clinical Neurology
Amal Abu Libdeh, Ahmed Ibrahim
Summary: This is a case of a 6-year-old girl presenting with progressive gait abnormality for 3 years, with normal milestones in fine motor, speech, and social skills.
Article
Biochemistry & Molecular Biology
Dong Du, Yingli Su, Qi Shang, Chan Chen, Weikang Tang, Ling Zhang, Haisheng Ren, Wenbin Liu
Summary: This study developed a biomimetic system for the production of L-DOPA from tyrosine with high efficiency and selectivity. By using tyrosine as substrate and a catalyst to simulate the active center of tyrosine hydroxylase, L-DOPA was successfully synthesized under optimized process parameters.
JOURNAL OF INORGANIC BIOCHEMISTRY
(2022)
Article
Agronomy
Long-Ji Ze, Pei Wang, Ying-Chuan Peng, Lin Jin, Guo-Qing Li
Summary: The study revealed that TH and DDC play crucial roles in larval and adult cuticle tanning and development in 28-spotted potato ladybird, suggesting that dopa- and dopamine-originated pigments are essential for larval and adult feeding behavior and the molting process during emergence.
PEST MANAGEMENT SCIENCE
(2022)
Article
Biochemical Research Methods
Yinbiao Xu, Youran Li, Zhiyong Wu, Yiming Lu, Guanjun Tao, Liang Zhang, Zhongyang Ding, Guiyang Shi
Summary: This study successfully enhanced the production of L-DOPA through a modular engineering strategy. Firstly, the catalytic efficiency of tyrosine hydroxylase was improved by enhancing its affinity for tetrahydrobiopterin. Secondly, the supply of tetrahydrobiopterin was increased through gene expression manipulation, oxygen transport facilitation, and regeneration. Finally, the yield of L-tyrosine was significantly increased by manipulating a specific spliced transcript. The engineered strain achieved high yields of L-DOPA in both shake flask and bioreactor, showing great potential for microbial production of L-DOPA and downstream pharmaceuticals.
ACS SYNTHETIC BIOLOGY
(2022)
Article
Pharmacology & Pharmacy
Weimin Kong, Xueying Sun, Siyu Yu, Peihua Liu, Xiaoke Zheng, Jiaxin Zhang, Liang Zhu, Tianxin Jiang, Mengmeng Jin, Jinghui Gao, Xiaomin Fan, Xiaodong Liu, Li Liu
Summary: Liver failure is associated with increased levels of dopamine in the brain, which can lead to psychiatric alterations. This study investigated the relationship between dopamine levels and mental abnormalities using BDL rats and SH-SY5Y cells, and explored the mechanism by which liver failure increases dopamine levels.
BRITISH JOURNAL OF PHARMACOLOGY
(2023)
Article
Neurosciences
Darren J. Byrne, Marcela Lipovsek, Andres Crespo, Matthew S. Grubb
Summary: In this study, we investigated the rapid experience-dependent changes in dopamine-synthesising enzyme expression in the olfactory bulb. The results showed that the expression of dopamine-synthesising enzyme was influenced by olfactory experience, while the expression of GABA-synthesising enzyme remained unchanged.
EUROPEAN JOURNAL OF NEUROSCIENCE
(2022)
Article
Clinical Neurology
Patrick Oeckl, Sarah Anderl-Straub, Christine A. F. Von Arnim, Ines Baldeiras, Janine Diehl-Schmid, Timo Grimmer, Steffen Halbgebauer, Anna M. Kort, Marisa Lima, Taina M. Marques, Marion Ortner, Isabel Santana, Petra Steinacker, Marcel M. Verbeek, Alexander E. Volk, Albert C. Ludolph, Markus Otto
Summary: This study reveals differences in serum levels of GFAP in AD and bvFTD, showing an early increase in MCI-AD and superior diagnostic performance for AD compared to NfL.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Clinical Neurology
Marc Vervuurt, Xiaoyue Zhu, Joseph Schrader, Anna M. Kort, Taina M. Marques, Iris Kersten, Annemieke M. Peters van Ton, Wilson F. Abdo, Floris H. B. M. Schreuder, Ingeborg Rasing, Gisela M. Terwindt, Marieke J. H. Wermer, Steven M. Greenberg, Catharina J. M. Klijn, H. Bea Kuiperij, William E. Van Nostrand, Marcel M. Verbeek
Summary: The aim of this study was to investigate the relationship between urokinase plasminogen activator (uPA) and cerebral amyloid angiopathy (CAA). The results showed that increased cerebrovascular expression of uPA in CAA is associated with elevated levels of uPA in cerebrospinal fluid (CSF), suggesting that uPA could serve as a biomarker for CAA.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2022)
Editorial Material
Neurosciences
Sirwan K. L. Darweesh, Nienke M. De Vries, Rick C. Helmich, Marcel M. Verbeek, Michael A. Schwarzschild, Bastiaan R. Bloem
JOURNAL OF PARKINSONS DISEASE
(2022)
Review
Neurosciences
Milan Beckers, Bastiaan R. Bloem, Marcel M. Verbeek
Summary: Parkinson's disease is a common neurodegenerative condition that has a significant negative impact on quality of life. Pharmacotherapy with levodopa is the main treatment, but some patients may become non-responsive to the medication, possibly due to impaired bowel motility and enzymatic abnormalities.
NPJ PARKINSONS DISEASE
(2022)
Article
Neurosciences
Anouke van Rumund, Rianne A. J. Esselink, Marjolein B. Berrevoets-Aerts, Markus Otto, Bastiaan R. Bloem, Marcel M. Verbeek
Summary: Prognosis of patients with parkinsonism varies greatly between different syndromes and it is difficult to distinguish the different forms, especially in early stages. This study identified predictors of mortality and functional outcome in patients with recent-onset parkinsonism and established a simple prediction model. The model showed excellent performance in predicting functional outcome and mortality, and the findings were confirmed in an external validation cohort.
NPJ PARKINSONS DISEASE
(2022)
Article
Endocrinology & Metabolism
Tessa M. A. Peters, Jona Merx, Pieter C. Kooijman, Marek Noga, Siebolt de Boer, Loes A. van Gemert, Guido Salden, Udo F. H. Engelke, Dirk J. Lefeber, Rianne E. van Outersterp, Giel Berden, Thomas J. Boltje, Rafael Artuch, Leticia Pias-Peleteiro, Angeles Garcia-Cazorla, Ivo Baric, Beat Thoeny, Jos Oomens, Jonathan Martens, Ron A. Wevers, Marcel M. Verbeek, Karlien L. M. Coene, Michel A. A. P. Willemsen
Summary: Using next-generation metabolic screening, we identified new biomarkers for improved diagnosis and pathophysiological understanding of glucose transporter type 1 deficiency syndrome (GLUT1DS).
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Article
Clinical Neurology
Anna M. De Kort, H. Bea Kuiperij, Taina M. Marques, Lieke Jakel, Emma van den Berg, Iris Kersten, Hugo E. P. van Berckel-Smit, Marco Duering, Erik Stoops, Wilson F. Abdo, Ingeborg Rasing, Sabine Voigt, Emma A. Koemans, Kanishk Kaushik, Andrew Davock Warren, Steven M. Greenberg, Gunnar Brinkmalm, Gisela M. Terwindt, Marieke J. H. Wermer, Floris H. B. M. Schreuder, Catharina J. M. Klijn, Marcel M. Verbeek
Summary: The composition of cerebrospinal fluid (CSF) may serve as a diagnostic biomarker of cerebral amyloid angiopathy (CAA), and a combined biomarker panel of CSF A beta 38, A beta 40, A beta 42, and A beta 43 has the potential to differentiate between different types of CAA and controls.
ANNALS OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Melissa Baerenfaenger, Merel A. Post, Pieter Langerhorst, Karin Huijben, Fokje Zijlstra, Joannes F. M. Jacobs, Marcel M. Verbeek, Hans J. C. T. Wessels, Dirk J. Lefeber
Summary: The glycosylation of proteins plays an important role in neurological development and disease. Glycoproteomic studies on CSF provide valuable insights into brain glycosylation. However, it is important to consider that CSF proteins mainly originate from the blood, not reflecting brain glycosylation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Letter
Clinical Neurology
Anna M. de Kort, H. Bea Kuiperij, Floris H. B. M. Schreuder, Catharina J. M. Klijn, Marcel M. Verbeek
ANNALS OF NEUROLOGY
(2023)
Article
Neurosciences
Emma van den Berg, Johanna Nilsson, Iris Kersten, Gunnar Brinkmalm, Anna M. de Kort, Catharina J. M. Klijn, Floris H. B. M. Schreuder, Lieke Jakel, Johan Gobom, Erik Portelius, Henrik Zetterberg, Ann Brinkmalm, Kaj Blennow, H. Bea Kuiperij, Marcel M. Verbeek
Summary: This study investigated synaptic dysfunction in cerebral amyloid angiopathy (CAA) and Alzheimer's disease (AD). The results showed that synaptic protein levels were largely unchanged in CAA patients, while they were significantly increased in AD patients. It was also found that abnormal synaptic protein levels were associated with concomitant AD pathology in CAA patients. These findings suggest a differential involvement of synaptic dysfunction in CAA and AD, possibly reflecting distinct pathological mechanisms.
JOURNAL OF ALZHEIMERS DISEASE
(2023)
Article
Clinical Neurology
Anna M. de Kort, H. Bea Kuiperij, Lieke Jakel, Iris Kersten, Ingeborg Rasing, Ellis S. van Etten, Sanneke van Rooden, Matthias J. P. van Osch, Marieke J. H. Wermer, Gisela M. Terwindt, Floris H. B. M. Schreuder, Catharina J. M. Klijn, Marcel M. Verbeek
Summary: Plasma A beta 42 levels may be used as a biomarker for patients with symptomatic D-CAA, while plasma A beta 38, A beta 40, and A beta 42 levels do not appear to be applicable as a biomarker in patients with sCAA.
ALZHEIMERS RESEARCH & THERAPY
(2023)
Article
Clinical Neurology
Evangelia Ioannidou, Charalampos Tsakiris, Dimitrios G. Goulis, Athanasios Christoforidis, Dimitrios Zafeiriou
Summary: There is a significant association between serum vitamin D levels and pediatric migraine, affecting the frequency and duration of the episodes.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Melanie T. Achleitner, Judith J. M. Jans, Laura Ebner, Johannes Spenger, Vassiliki Konstantopoulou, Rene G. Feichtinger, Karin Brugger, Doris Mayr, Ron A. Wevers, Christian Thiel, Saskia B. Wortmann, Johannes A. Mayr
Summary: Two siblings showed increased levels of galactose and related metabolites in neonatal screening, but diagnostic tests did not identify abnormalities in known disease-causing enzymes. Whole-exome sequencing revealed a homozygous missense variant in the PPA1 gene, which was found to reduce enzyme activity and protein stability. The observed metabolic derangement is hypothesized to be a mild manifestation of PPA1 deficiency.
Correction
Biochemistry & Molecular Biology
Shona Kalkman, Ron A. Wevers, Frits A. Wijburg, Mariska M. G. Leeflang
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Meeting Abstract
Clinical Neurology
R. Van Dort, I. Rasing, E. Koemans, S. Voigt, K. Kaushik, R. Van der Zwet, M. Schipper, T. Van Harten, E. Van Etten, M. Verbeek, M. Van Buchem, S. Van Rooden, J. Van der Grond, E. Van Zwet, M. Van Walderveen, M. Van Osch, G. Terwindt, M. Wermer
INTERNATIONAL JOURNAL OF STROKE
(2022)