Article
Clinical Neurology
Wo-Tu Tian, Fei-Xia Zhan, Zhen-Hua Liu, Zhe Liu, Qing Liu, Xia-Nan Guo, Zai-Wei Zhou, Shi-Ge Wang, Xiao-Rong Liu, Hong Jiang, Xun-Hua Li, Guo-Hua Zhao, Hai-Yan Li, Jian-Guang Tang, Guang-Hui Bi, Ping Zhong, Xiao-Meng Yin, Tao-Tao Liu, Rui-Long Ni, Hao-Ran Zheng, Xiao-Li Liu, Xiao-Hang Qian, Jing-Ying Wu, Yu-Wen Cao, Chao Zhang, Shi-Hua Liu, Ying-Ying Wu, Qun-Feng Wang, Ting Xu, Wen-Zhe Hou, Zi-Yi Li, Hui-Yi Ke, Ze-Yu Zhu, Lan Zheng, Tian Wang, Tian-Yi Rong, Li Wu, Yu Zhang, Kan Fang, Zhan-Hang Wang, Ya-Kun Zhang, Mei Zhang, Yu-Wu Zhao, Bei-Sha Tang, Xing-Hua Luan, Xiao-Jun Huang, Li Cao
Summary: Through whole-exome sequencing and case-control analysis, mutations in transmembrane protein 151 (TMEM151A) were found to be associated with Paroxysmal Kinesigenic Dyskinesia (PKD), expanding the genotypic spectrum of PKD. TMEM151A-related PKD is more common in sporadic cases and tends to present as a late-onset pure phenotype.
MOVEMENT DISORDERS
(2022)
Article
Oncology
Yulan Chen, Dianfu Chen, Shaoyun Zhao, Gonglu Liu, Hongfu Li, Zhi-Ying Wu
Summary: In this study, the penetrance of PRRT2 was estimated, with findings that Asian patients or carriers of truncated variants are more likely to develop PRRT2-related disorders. Penetrance was approximately three-quarters, which is meaningful for genetic counseling.
FRONTIERS OF MEDICINE
(2021)
Article
Clinical Neurology
Yu-Lan Chen, Dian-Fu Chen, Hong-Fu Li, Zhi-Ying Wu
Summary: This study compared the phenotypic characteristics of patients with PKD carrying PRRT2 variants, TMEM151A variants, and neither variant. Patients with TMEM151A variants showed different features from those with PRRT2 variants.
MOVEMENT DISORDERS
(2022)
Review
Neurosciences
Jiao-Jiao Xu, Hong-Fu Li, Zhi-Ying Wu
Summary: Paroxysmal kinesigenic dyskinesia (PKD) is a common type of sudden movement disorder characterized by sudden and brief attacks of choreoathetosis or dystonia triggered by sudden voluntary movements. PKD is mainly caused by mutations in the PRRT2 or TMEM151A gene, and its exact pathophysiological mechanisms are still unclear. The role of the cerebrum, including the cortex and thalamus, needs further investigation in PKD.
NEUROSCIENCE BULLETIN
(2023)
Article
Clinical Neurology
Xiaoli Liu, Huiyi Ke, Xiaohang Qian, Shige Wang, Feixia Zhan, Ziyi Li, Wotu Tian, Xiaojun Huang, Bin Zhang, Li Cao
Summary: This study investigated the clinical and genetic features of PKD and analyzed the genotype-phenotype correlation. The results showed that PRRT2 mutations are common in PKD patients and are associated with earlier age at onset, longer duration of attacks, a complicated form of PKD, and combined phenotypes of dystonia and chorea. Patients with microdeletion of 16p11.2 may have more severe manifestations. The HKE test was found to contribute to the diagnosis of PKD.
JOURNAL OF NEUROLOGY
(2022)
Article
Neurosciences
Xiuli Li, Du Lei, Kun Qin, Lei Li, Yingying Zhang, Dong Zhou, Graham J. Kemp, Qiyong Gong
Summary: This study explored the impact of proline-rich transmembrane protein 2 mutations on the brain structure of paroxysmal kinesigenic dyskinesia patients. The results showed that these mutations lead to deficits in gray matter networks, offering new insights into the pathophysiological mechanisms of paroxysmal kinesigenic dyskinesia.
Article
Clinical Neurology
Othman Mounir Alaoui, Pierre-Francois Charbonneau, Pauline Prin, Marie Mongin, Mathilde Choquer, Philippe Damier, Florence Riant, Bertrand Degos
Summary: Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder triggered by sudden voluntary movement. Variants in the TMEM151A gene have recently been associated with the development of PKD. This report presents three patients with PKD, including two with previously undescribed TMEM151A mutations.
PARKINSONISM & RELATED DISORDERS
(2023)
Review
Clinical Neurology
Claudio M. de Gusmao, Lucas Garcia, Mohamad A. Mikati, Samantha Su, Laura Silveira-Moriyama
Summary: This review examines different types of paroxysmal movement disorders and their genetic etiologies related to epilepsy, emphasizing the importance of clinical phenotyping for diagnosis and genetic testing interpretation. It discusses insights on the pathophysiology of select disorders and shared treatment principles. The growing number of genes associated with movement disorders and epilepsy are likely to lead to more effective treatments in the future.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
Lulu Yao, Wei Liang, Shanshan Mei, Erhe Xu, Xiaobo Huang
Summary: This report describes a case of elderly-onset paroxysmal kinesigenic dyskinesia (PKD) in a female patient. After thorough examinations, the patient was clinically diagnosed with PKD and showed improvement with oxcarbazepine treatment. This case expands our understanding of the age of onset of PKD and highlights the importance of accurate diagnosis.
NEUROLOGY AND THERAPY
(2022)
Article
Clinical Neurology
Asya Ekmen, Aurelie Meneret, Romain Valabregue, Benoit Beranger, Yulia Worbe, Jean-Charles Lamy, Sofien Mehdi, Anais Herve, Isaac Adanyeguh, Gizem Temiz, Philippe Damier, Domitille Gras, Agathe Roubertie, Juliette Piard, Vincent Navarro, Eugenie Mutez, Florence Riant, Quentin Welniarz, Marie Vidailhet, Stephane Lehericy, Sabine Meunier, Cecile Gallea, Emmanuel Roze
Summary: This study aimed to investigate the role of the cerebellum in the pathogenesis of PRRT2-related dyskinesia. The results showed that patients had structural and functional abnormalities in the cerebellum, and cerebellar stimulation could modulate communication within the cerebellar networks and restore it to the level observed in healthy controls.
Article
Genetics & Heredity
Hua lin Huang, Qing xia Zhang, Fei Huang, Xiao yan Long, Zhi Song, Bo Xiao, Guo liang Li, Cai yu Ma, Ding Liu
Summary: By analyzing sporadic and familial cases, this study expands the understanding of the clinical and mutation spectrum of PKD caused by TMEM151A variants. The study clarifies the clinical and genetic features of Chinese PKD patients and explores the relationship between TMEM151A mutations and PKD.
Article
Clinical Neurology
Jun-Hong Geng, Yang Zheng, Quan-Fu Li, Qun Hou, Xiao-Hang Wang, Yan Jiang
Summary: Paroxysmal kinesigenic dyskinesia (PKD) patients may also suffer from epilepsy, making it challenging to differentiate and control both diseases. This case report documents a Chinese girl with PKD and epilepsy, effectively controlled with the use of lacosamide (LCM), offering a new option for patients resistant to conventional antiepileptic drugs.
FRONTIERS IN NEUROLOGY
(2022)
Review
Clinical Neurology
Zi-yi Li, Wo-tu Tian, Xiao-jun Huang, Li Cao
Summary: Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder characterized by recurrent and transient episodes of involuntary movements, triggered by sudden voluntary movement. The disturbance of the basal ganglia-thalamo-cortical circuit is considered the cause, along with structural and functional abnormalities in the basal ganglia, thalamus, and cortex. Recent studies also highlight the role of the cerebellum in PKD. This literature review aims to provide an overview of the current research progress in understanding the neural circuits and pathogenesis of PKD. (c) 2023 International Parkinson and Movement Disorder Society.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Huan Wang, Pengcheng Huang, Min Zhu, Xin Fang, Chensi Wu, Daojun Hong
Summary: This study reports the typical phenotype of paroxysmal kinesigenic dyskinesia (PKD) observed in a three-generation family with five individuals affected. Interestingly, one of the individuals exhibited benign familial infantile convulsions (BFIC) at a young age, which spontaneously resolved. At a later age, she developed PKD and gradually relieved. Whole exome sequence and co-segregation analysis identified a novel heterozygous variant in the TMEM151A gene. The findings suggest an association between the TMEM151A gene and the disease spectrum of PKD-PKD/IC-BFIC.
NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Fang Ji, Qing Ke, Kang Wang, Ben-yan Luo
Summary: The pathogenesis of primary paroxysmal kinesigenic dyskinesia (PKD) is unclear, but channelopathy is a possibility. In a study comparing PKD patients with control subjects and hypokalemic periodic paralysis (HoPP) patients, PKD patients showed differences in exercise test results compared to HoPP patients. Genetic testing revealed PRRT2 mutations in some PKD patients, but these gene abnormalities did not correlate with exercise test parameters.
NEUROLOGICAL SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Yu-Ju Huang, Jun-Jun Lee, Wen-Lan Fan, Che-Wei Hsu, Nai-Wen Tsai, Cheng-Hsien Lu, Wen-Neng Chang, Meng-Han Tsai
Summary: By conducting genetic sequencing on NMOSD familial and sporadic patients, this study identified a 19 base pair deletion in exon 4 of the CD33 gene as a potential risk locus for NMOSD. This finding sheds light on the genetic mechanisms and potential therapeutic targets for NMOSD.
BIOMEDICAL JOURNAL
(2021)
Article
Clinical Neurology
Chen-Jui Ho, Shih-Hsuan Chen, Chih-Hsiang Lin, Yan-Ting Lu, Che-Wei Hsu, Meng-Han Tsai
Summary: This retrospective study on ischemic stroke patients with atrial fibrillation found that the recurrence rate of strokes in NOAC users with potential drug-drug interactions (DDIs) was not higher than in those without potential DDIs. The results suggest that theoretical interactions between anti-seizure medications (ASMs) and NOACs may not be as severe as previously thought in real-world scenarios.
FRONTIERS IN NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Yan-Ting Lu, Chung-Yao Hsu, Yo-Tsen Liu, Chung -Kin Chan, Yao-Chung Chuang, Chih-Hsiang Lin, Kai-Ping Chang, Chen-Jui Ho, Ching -Ching Ng, Kheng-Seang Lim, Meng -Han Tsai
Summary: This study aims to delineate the clinical and imaging spectrum that differentiates FLNA-positive and FLNA-negative PVNH patients. The results showed that FLNA mutations accounted for less than half of the PVNH patients, and FLNA-positive patients were more likely to have extra-cerebral features compared with FLNA-negative patients.
BIOMEDICAL JOURNAL
(2022)
Article
Endocrinology & Metabolism
Feng-Chih Shen, Shao-Wen Weng, Meng-Han Tsai, Yu-Jih Su, Sung-Chou Li, Shun-Jen Chang, Jung-Fu Chen, Yen-Hsiang Chang, Chia-Wei Liou, Tsu-Kung Lin, Jiin-Haur Chuang, Ching-Yi Lin, Pei-Wen Wang
Summary: Mitochondrial haplogroups have a significant impact on the clinical characteristics of type 2 diabetes, with patients carrying the D4 haplogroup being less likely to require insulin treatment compared to those with non-D4 haplotypes. However, there is no significant association between insulin requirement and genetic variants in nuclear DNA. This highlights the role of mitochondria in the management of common metabolic diseases.
JOURNAL OF DIABETES INVESTIGATION
(2022)
Article
Environmental Sciences
Ting-Hao Chen, Chen-Cheng Yang, Kuei-Hau Luo, Chia-Yen Dai, Yao-Chung Chuang, Hung-Yi Chuang
Summary: This study utilized whole genomic genotypes from the Taiwan Biobank to explore the association between Al concentrations in plasma and renal function, identifying a link between DPP6 SNPs, plasma Al concentrations, and eGFR. Further longitudinal studies and research on mechanism are needed to validate these findings. This analysis represents the first study to investigate the impact of DPP6, SNPs, and Al in plasma on eGFR.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2021)
Article
Cell Biology
Elisa Savino, Fabrizia Claudia Guarnieri, Jin-Wu Tsai, Anna Corradi, Fabio Benfenati, Flavia Valtorta
Summary: Mutations in the PRRT2 gene are the main cause of various paroxysmal neurological diseases, affecting neurotransmitter release regulation and actin cytoskeleton dynamics during synaptogenesis. The PRRT2 protein plays a crucial role in growth cone morphology during neuronal development, with abnormal PRRT2 leading to changes in growth cone shape and actin cytoskeleton.
Review
Biochemistry & Molecular Biology
Kai-Jung Lin, Tzu-Jou Wang, Shang-Der Chen, Kai-Lieh Lin, Chia-Wei Liou, Min-Yu Lan, Yao-Chung Chuang, Jiin-Haur Chuang, Pei-Wen Wang, Jong-Jer Lee, Feng-Sheng Wang, Hung-Yu Lin, Tsu-Kung Lin
Summary: Parkinson's disease is a common neurodegenerative disease with unknown etiology and no disease-modifying treatment available. Research has shown a link between type-2 diabetes and Parkinson's disease risk and severity, with antidiabetic drugs potentially providing neuroprotective effects for patients.
Article
Clinical Neurology
Jun-Ru Lin, Ju-Fang Cheng, Yo-Tsen Liu, Ting-Rong Hsu, Kao-Min Lin, Chien Chen, Chia-Ling Lin, Meng-Han Tsai, Jin-Wu Tsai
Summary: This study aims to investigate how DCX variants affect neuronal migration defects during brain development. Through experiments, it was found that these variants decreased the microtubule binding ability and dynamics of DCX, potentially leading to neuronal migration defects.
Article
Clinical Neurology
Edouard Hirsch, Jacqueline French, Ingrid E. Scheffer, Alicia Bogacz, Taoufik Alsaadi, Michael R. Sperling, Fatema Abdulla, Sameer M. Zuberi, Eugen Trinka, Nicola Specchio, Ernest Somerville, Pauline Samia, Kate Riney, Rima Nabbout, Satish Jain, Jo M. Wilmshurst, Stephane Auvin, Samuel Wiebe, Emilio Perucca, Solomon L. Moshe, Paolo Tinuper, Elaine C. Wirrell
Summary: This paper aims to define the four syndromes comprising the idiopathic generalized epilepsies (IGEs) and provides updated diagnostic criteria. For patients who do not meet the criteria for these syndromes but have generalized seizure types, a classification is also provided. Recognizing these syndromes as a special grouping helps determine prognosis and treatment implications.
Article
Clinical Neurology
Chaseley E. Mckenzie, Chen-Jui Ho, Ian C. Forster, Ming S. Soh, A. Marie Phillips, Ying-Chao Chang, Ingrid E. Scheffer, Christopher A. Reid, Meng-Han Tsai
Summary: Variants in HCN1 are associated with epilepsy syndromes. This study describes a child with a novel de novo HCN1 variant (E246A) who has epilepsy and mild developmental delay. The child has difficulty in discriminating between colors, which may be related to the high expression of HCN1 channels in photoreceptors.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Yan-Ting Lu, Chih-Hsiang Lin, Chen-Jui Ho, Che-Wei Hsu, Meng-Han Tsai
Summary: Voltage-gated sodium channels play a crucial role in neuronal excitability and epilepsy, but drugs that block these channels may have unwanted effects on the heart. Lacosamide is an increasingly used medication for seizures, and there have been concerns about its cardiac side effects. In this study, we retrospectively reviewed the use of intravenous lacosamide in patients with seizures in our Neurological Intensive Care Unit. The results showed that intravenous lacosamide did not cause life-threatening cardiac adverse effects.
FRONTIERS IN NEUROLOGY
(2022)
Review
Cell Biology
Kai-Jung Lin, Shang-Der Chen, Kai-Lieh Lin, Chia-Wei Liou, Min-Yu Lan, Yao-Chung Chuang, Pei-Wen Wang, Jong-Jer Lee, Feng-Sheng Wang, Hung-Yu Lin, Tsu-Kung Lin
Summary: Parkinson's disease is the second most common neurodegenerative disease and is associated with iron accumulation and iron-dependent phospholipid peroxidation, which leads to a novel cell death pathway called ferroptosis. Recent research has focused on targeting ferroptosis as a potential intervention for PD.
Review
Biochemistry & Molecular Biology
Shih-Ying Chen, Chen-Jui Ho, Yan-Ting Lu, Chih-Hsiang Lin, Min-Yu Lan, Meng-Han Tsai
Summary: Primary Familial Brain Calcification (PFBC), also known as Fahr's disease, is a rare inherited disorder characterized by bilateral calcification in the basal ganglia. It can also affect other brain regions such as the thalamus, cerebellum, and subcortical white matter. Common symptoms include movement disorders, cognitive deficits, and psychiatric disturbances. Genetic studies have identified seven genes associated with PFBC, and further research is needed to uncover additional genes. Understanding the underlying pathogenic mechanisms may lead to the development of new therapies for PFBC.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Yan-Ting Lu, Chih-Hsiang Lin, Chen-Jui Ho, Shih-Ying Chen, Meng-Han Tsai
Summary: We analyzed the application and effectiveness of prediction tools for autoimmune encephalitis (AE) patients in Taiwan. Antibody Prevalence in Epilepsy (APE) score, Response to Immunotherapy in Epilepsy (RITE) score, and anti-NMDAR Encephalitis One Year Functional Status (NEOS) score were used. The AUC values for APE and RITE scores were suboptimal, while NEOS score performed better on long-term follow-up.