Editorial Material
Biochemistry & Molecular Biology
Maya Atanasoska, Radoslava Vazharova, Galina Stevanovic, Irena Bradinova, Slavyana Yaneva Staykova, Lubomir Balabanski, Daniela Mircheva, Daniela Avdjieva-Tzavella, Draga Toncheva
Summary: This study reports three cases of Dopa-responsive dystonia (DRD), including two cases of TH deficiency with compound heterozygous missense variants in the TH gene, and one case of GCH1 deficiency with a heterozygous pathogenic variant in the GCH1 gene. The diagnosis of DRD was determined by whole exome sequencing and whole genome sequencing. The aim of this study is to increase awareness for DRD, especially in Bulgaria, as early diagnosis is crucial for prognosis and therapy outcome.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
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)
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
Chemistry, Applied
Cristina P. Nascimento, Thais M. Cipriano, Francisco J. L. Aragao
Summary: This study investigated the variations in total folate levels in different genotypes of cowpea and their correlation with the expression of a specific gene. The results showed a large variation in folate content among cowpea genotypes, with the highest levels observed at 20 days after anthesis. Additionally, there was a significant correlation between the folate content and the expression of the specific gene. These findings have important implications for breeding programs and the development of cowpea varieties with high folate content.
JOURNAL OF FOOD COMPOSITION AND ANALYSIS
(2022)
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
Immunology
Weilin Zeng, Siqi Wang, Shi Feng, Daibin Zhong, Yue Hu, Yao Bai, Yonghua Ruan, Yu Si, Hui Zhao, Qi Yang, Xinxin Li, Xi Chen, Yanmei Zhang, Cuiying Li, Zheng Xiang, Yanrui Wu, Fang Chen, Pincan Su, Benjamin M. Rosenthal, Zhaoqing Yang
Summary: Drug-resistant markers in Plasmodium vivax populations along the China-Myanmar border are prevalent and widely spread, with multiple mutant haplotypes found in specific parasite genes. The study also suggests that SP-resistant P. vivax may have alternative mechanisms to maintain sufficient folate levels.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2021)
Article
Plant Sciences
Emilie Bjornsdotter, Marcin Nadzieja, Wei Chang, Leandro Escobar-Herrera, Davide Mancinotti, Deepti Angra, Xinxing Xia, Rebecca Tacke, Hamid Khazaei, Christoph Crocoll, Albert Vandenberg, Wolfgang Link, Frederick L. Stoddard, Donal M. O'Sullivan, Jens Stougaard, Alan H. Schulman, Stig U. Andersen, Fernando Geu-Flores
Summary: Vicine and convicine, which can cause haemolytic anaemia in genetically predisposed individuals, are the main anti-nutritional factors in faba bean seeds. The key enzyme VC1, identified through gene-to-metabolite correlations and genetic complementation, plays a crucial role in biosynthesis of vicine and convicine. Cultivars with low levels of these compounds have an inactivating insertion in the coding sequence of VC1.
Article
Clinical Neurology
Jun Ikezawa, Rui Shimazaki, Shinsuke Tobisawa, Keizo Sugaya, Kazushi Takahashi
Summary: SCA6 typically presents with cerebellar ataxia and rarely with extra-pyramidal symptoms. We report the first case of SCA6 with dopa-responsive dystonia. A 75-year-old woman presented with progressive cerebellar ataxia and dystonia in the left upper limb. Genetic testing confirmed SCA6 diagnosis. Oral levodopa improved her dystonia, allowing her to raise her left hand. Oral levodopa may be beneficial in the early treatment of SCA6-associated dystonia.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2023)
Review
Clinical Neurology
Anne Weissbach, Martje G. Pauly, Rebecca Herzog, Lisa Hahn, Sara Halmans, Feline Hamami, Christina Bolte, Sarah Camargos, Beomseok Jeon, Manju A. Kurian, Thomas Opladen, Norbert Brueggemann, Hans-Juergen Huppertz, Inke R. Koenig, Christine Klein, Katja Lohmann
Summary: By analyzing a large number of DRD patients and asymptomatic GCH1 mutation carriers, specific phenotypic and biochemical characteristics were identified, which can aid in the rapid diagnosis and initiation of treatment.
MOVEMENT DISORDERS
(2022)
Review
Clinical Neurology
Toshiharu Nagatsu
Summary: The author identified the genes and proteins involved in the biosynthesis of catecholamines and tetrahydrobiopterin, and discussed their changes in Parkinson's disease. The review also highlighted the potential factors contributing to the death of dopamine neurons and the progress in gene therapies for PD.
JOURNAL OF NEURAL TRANSMISSION
(2023)
Article
Clinical Neurology
WooJoong Kim, Jae So Cho, Young Kyu Shim, Young Jun Ko, Sun Ah Choi, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jieun Choi, Ki Joong Kim, Man Jin Kim, Moon-Woo Seong, Jong-Hee Chae
Summary: AD GCH1 deficiency in early-onset patients is characterized by diagnostic delay and residual motor signs, with diagnostic delay being more closely associated with later RMS.
BRAIN & DEVELOPMENT
(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
Peripheral Vascular Disease
Hainan Li, Huong Nguyen, Sai Pranathi Meda Venkata, Jia Yi Koh, Anjaneyulu Kowluru, Li Li, Noreen F. Rossi, Wei Chen, Jie-Mei Wang
Summary: Inhibition of GPR35 was found to enhance endothelial cell functions and promote angiogenesis while reducing intracellular superoxide levels, resulting in improved vasodilation and decreased blood pressure in male mice. These findings suggest that antagonizing GPR35 activity could be a potential therapeutic approach to restore endothelial function and maintain hemodynamic homeostasis, particularly in the context of hypertension.
Article
Neurosciences
Hannah Larbalestier, Marcus Keatinge, Lisa Watson, Emma White, Siri Gowda, Wenbin Wei, Katjusa Koler, Svetlana A. Semenova, Adam M. Elkin, Neal Rimmer, Sean T. Sweeney, Julie Mazzolini, Dirk Sieger, Winston Hide, Jonathan McDearmid, Pertti Panula, Ryan B. MacDonald, Oliver Bandmann
Summary: In this study, a loss of function zebrafish gch1(-/-) mutant was generated using CRISPR/Cas technology to investigate the mechanisms by which GCH1 deficiency may contribute to PD. The results suggest that GCH1 deficiency may indirectly contribute to neuronal cell death via immune-mediated mechanisms. The study highlights the importance of functional validation for GWAS risk factors and emphasizes the role of inflammation in the pathogenesis of PD.
JOURNAL OF NEUROSCIENCE
(2022)
Article
Clinical Neurology
Xue Wang, Shanshan Mei, Zichen Tian, Lin Wang, Guiliang Hao, Xin Zhu, Wei Mao, Jianyu Li
Summary: Dopa-responsive dystonia (DRD) is a movement disorder with genetic and clinical heterogeneity, characterized by a dramatic response to levodopa. This study presents the clinical outcome of pallidal stimulation in a DRD patient who had a poor response to levodopa. The results show that pallidal stimulation leads to promising clinical outcomes for levodopa-resistant DRD.
FRONTIERS IN NEUROLOGY
(2022)
Letter
Clinical Neurology
Young Gi Min, Dallah Yoo, Jee-Young Lee
NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Ji-Hyun Choi, Heejung Kim, Jung Hwan Shin, Jee-Young Lee, Han-Joon Kim, Jong-Min Kim, Beomseok Jeon
Summary: The study revealed that the severity of oculomotor dysfunction in PSP patients can differentiate between subtypes and is significantly related to dysphagia symptoms and SCP volume in PSP.
JOURNAL OF NEUROLOGY
(2021)
Letter
Clinical Neurology
Jee-Young Lee, Jeeyun Ahn, Joo Young Shin, Beomseok Jeon
ANNALS OF NEUROLOGY
(2021)
Letter
Clinical Neurology
Kyung Ah Woo, Dallah Yoo, Jee-Young Lee, Man Jin Kim, Moon-Woo Seong, Sung Sup Park, Beomseok Jeon
NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Ryul Kim, Jee-Young Lee, Yu Kyeong Kim, Heejung Kim, Eun Jin Yoon, Jung Hwan Shin, Dallah Yoo, Hyunwoo Nam, Beomseok Jeon
Summary: This study examined the longitudinal changes in RBDRP expression in isolated rapid eye movement (REM) sleep behavior disorder (iRBD) patients and found significant alterations over time, suggesting attempted functional compensation against ongoing neurodegeneration. The baseline RBDRP expression was not a reliable predictor of disease conversion.
MOVEMENT DISORDERS
(2021)
Article
Clinical Neurology
Jung Hwan Shin, Jee-Young Lee, Yu-Kyeong Kim, Eun Jin Yoon, Heejung Kim, Hyunwoo Nam, Beomseok Jeon
Summary: The study revealed that dnPDRBD-RP is an efficient neuroimaging biomarker reflecting prodromal features of PD and predicting future disease conversion in patients with iRBD.
Article
Clinical Neurology
Kyung Ah Woo, Joo Young Shin, Heejung Kim, Jeeyun Ahn, Beomseok Jeon, Jee-Young Lee
Summary: PSP patients showed global pRNFL thinning compared to controls, which correlated with disease severity. Nasal pRNFL thinning was positively correlated with disease progression, while global pRNFL thickness showed potential associations with nonmotor items in the PSP rating scale.
JOURNAL OF NEUROLOGY
(2022)
Review
Clinical Neurology
Jee-Young Lee, Antonio Martin-Bastida, Ane Murueta-Goyena, Inigo Gabilondo, Nicolas Cuenca, Paola Piccini, Beomseok Jeon
Summary: This review highlights the importance of in vivo imaging biomarkers for early diagnosis and monitoring of Parkinson disease (PD). By combining various imaging techniques such as PET, single-photon emission CT, MRI, and retinal optical coherence tomography (OCT), the early diagnosis and management of PD can be aided.
NATURE REVIEWS NEUROLOGY
(2022)
Article
Clinical Neurology
Eun Jin Yoon, Jee-Young Lee, Heejung Kim, Dallah Yoo, Jung Hwan Shin, Hyunwoo Nam, Beomseok Jeon, Yu Kyeong Kim
Summary: The presence of MCI in iRBD patients is associated with functional and metabolic changes in brain regions, particularly the occipital and parietal areas. Hypometabolism in the occipital pole, medial occipital, and precuneus regions is predictive of phenoconversion to PD or DLB in patients with iRBD. Evaluation of cognitive function and neuroimaging characteristics could aid in risk stratification for these patients.
Article
Clinical Neurology
Ryul Kim, Heejung Kim, Yu Kyeong Kim, Eun Jin Yoon, Hyun Woo Nam, Beomseok Jeon, Jee-Young Lee
Summary: This study reveals diverse trajectories of metabolic responses associated with dopaminergic denervation in different brain regions in the prodromal and early stages of Parkinson's disease.
MOVEMENT DISORDERS
(2022)
Article
Clinical Neurology
Hee Jin Chang, Cheol-Min Shin, Jin Whan Cho, Seong-Beom Koh, YoungSoon Yang, Hee Tae Kim, Jong-Min Kim, Jee-Young Lee
Summary: This study aimed to investigate the sex differences in gastrointestinal dysfunctions among patients with Parkinson's disease (PD). The findings showed that female patients experience worse gastrointestinal symptoms than males, with specific symptoms such as inability to finish a regular meal and nausea being significantly worse in females.
NEUROLOGICAL SCIENCES
(2023)
Article
Neurosciences
Jung Hwan Shin, Heejung Kim, Yu Kyeong Kim, Eun Jin Yoon, Hyunwoo Nam, Beomseok Jeon, Jee-Young Lee
Summary: This study investigated the longitudinal evolution of cortical thickness signature in individuals with isolated rapid-eye-movement sleep behavior disorder (iRBD) and its predictive value in determining the conversion to dementia. The results showed that the cortical thickness signature can effectively predict the conversion to dementia-first phenotype and differentiate between dementia-first and parkinsonism-first conversions.
TRANSLATIONAL NEURODEGENERATION
(2023)
Review
Clinical Neurology
Priya Jagota, Shen-Yang Lim, Pramod Kumar Pal, Jee-Young Lee, Prashanth Lingappa Kukkle, Shinsuke Fujioka, Huifang Shang, Onanong Phokaewvarangkul, Roongroj Bhidayasiri, Norlinah Mohamed Ibrahim, Yoshikazu Ugawa, Zakiyah Aldaajani, Beomseok Jeon, Cid Diesta, Cholpon Shambetova, Chin-Hsien Lin
Summary: The increasing availability of molecular genetic testing has changed the landscape of both genetic research and clinical practice. These advancements lead to the awareness that some genetic movement disorders may cluster in certain ethnic populations and genetic pleiotropy may result in unique clinical presentations in specific ethnic groups. Recognition of a particular clinical phenotype, combined with information about the ethnic origin of patients could lead to early and correct diagnosis and assist the development of future personalized medicine for patients with these disorders.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Clinical Neurology
Kyung Ah Woo, Joo Hong Joun, Eun Jin Yoon, Chan Young Lee, Beomseok Jeon, Yu Kyeong Kim, Jee-Young Lee
Summary: This study investigated the relationship between monoaminergic degeneration and ocular motor abnormalities in newly diagnosed Parkinson's disease (PD) patients. The results showed that saccadic accuracy was related to motor severity, while latency was related to cognitive function. Degeneration in the anterior and posterior putamen was associated with reduced saccadic accuracy, while degeneration in the dorsal raphe was associated with decreased smooth pursuit gain.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Kyung Ah Woo, Heejung Kim, Eun Jin Yoon, Jung Hwan Shin, Hyunwoo Nam, Beomseok Jeon, Yu Kyeong Kim, Jee-Young Lee
Summary: This study investigated the structural and functional connectivity changes in brain olfactory-related structures in isolated REM sleep behavior disorder (iRBD) and their correlations with clinical symptoms, longitudinal evolution, and predictive values for phenoconversion to Lewy body disease. The findings suggest that progressive atrophy of central olfactory structures may indicate the progression of Lewy body disease in iRBD patients.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
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)