keyword
https://read.qxmd.com/read/37309109/nine-hereditary-movement-disorders-first-described-in-asia-their-history-and-evolution
#21
JOURNAL ARTICLE
Priya Jagota, Yoshikazu Ugawa, Zakiyah Aldaajani, Norlinah Mohamed Ibrahim, Hiroyuki Ishiura, Yoshiko Nomura, Shoji Tsuji, Cid Diesta, Nobutaka Hattori, Osamu Onodera, Saeed Bohlega, Amir Al-Din, Shen-Yang Lim, Jee-Young Lee, Beomseok Jeon, Pramod Kumar Pal, Huifang Shang, Shinsuke Fujioka, Prashanth Lingappa Kukkle, Onanong Phokaewvarangkul, Chin-Hsien Lin, Cholpon Shambetova, Roongroj Bhidayasiri
Clinical case studies and reporting are important to the discovery of new disorders and the advancement of medical sciences. Both clinicians and basic scientists play equally important roles leading to treatment discoveries for both cures and symptoms. In the field of movement disorders, exceptional observation of patients from clinicians is imperative, not just for phenomenology but also for the variable occurrences of these disorders, along with other signs and symptoms, throughout the day and the disease course...
September 2023: Journal of Movement Disorders
https://read.qxmd.com/read/37288166/translating-genetic-discovery-into-a-mechanistic-understanding-of-pediatric-movement-disorders-lessons-from-genetic-dystonias-and-related-disorders
#22
JOURNAL ARTICLE
Wei-Sheng Lin
The era of next-generation sequencing has increased the pace of gene discovery in the field of pediatric movement disorders. Following the identification of novel disease-causing genes, several studies have aimed to link the molecular and clinical aspects of these disorders. This perspective presents the developing stories of several childhood-onset movement disorders, including paroxysmal kinesigenic dyskinesia, myoclonus-dystonia syndrome, and other monogenic dystonias. These stories illustrate how gene discovery helps focus the research efforts of scientists trying to understand the mechanisms of disease...
June 2023: Advanced genetics
https://read.qxmd.com/read/37271286/missense-mutations-in-the-membrane-domain-of-prrt2-affect-its-interaction-with-nav1-2-voltage-gated-sodium-channels
#23
JOURNAL ARTICLE
Bruno Sterlini, Francesca Franchi, Lisastella Morinelli, Beatrice Corradi, Chiara Parodi, Martina Albini, Alessandra Bianchi, Antonella Marte, Pietro Baldelli, Giulio Alberini, Luca Maragliano, Pierluigi Valente, Fabio Benfenati, Anna Corradi
PRRT2 is a neuronal protein that controls neuronal excitability and network stability by modulating voltage-gated Na+ channel (Nav). PRRT2 pathogenic variants cause pleiotropic syndromes including epilepsy, paroxysmal kinesigenic dyskinesia and episodic ataxia attributable to loss-of-function pathogenetic mechanism. Based on the evidence that the transmembrane domain of PRRT2 interacts with Nav1.2/1.6, we focused on eight missense mutations located within the domain that show expression and membrane localization similar to the wild-type protein...
June 2, 2023: Neurobiology of Disease
https://read.qxmd.com/read/37269313/functional-characterization-of-kcnma1-mutation-associated-with-dyskinesia-seizure-developmental-delay-and-cerebellar-atrophy
#24
JOURNAL ARTICLE
Emrah Yucesan, Beyza Goncu, Cemil Ozgul, Arda Kebapci, Ayca Dilruba Aslanger, Enes Akyuz, Gozde Yesil
KCNMA1 located on chromosome 10q22.3, encodes the pore-forming α subunit of the "Big K+" (BK) large conductance calcium and voltage-activated K + channel. Numerous evidence suggests the functional BK channel alterations produced by different KCNMA1 alleles may associate with different symptoms, such as paroxysmal non kinesigenic dyskinesia with gain of function and ataxia with loss of function. Functional classifications revealed two major patterns, gain of function and loss of function effects on channel properties in different cell lines...
June 3, 2023: International Journal of Neuroscience
https://read.qxmd.com/read/37245844/low-intensity-ultrasound-directly-modulates-neural-activity-of-the-cerebellar-cortex
#25
JOURNAL ARTICLE
Ruo-Shui Xu, Xue-Mei Wu, Zhi-Qi Xiong
BACKGROUND: Low-intensity ultrasound is a noninvasive neuromodulation technique with the potential to focally manipulate deep brain activity at millimeter-scale resolution. However, there have been controversies over the direct influence of ultrasound on neurons, due to an indirect auditory activation. Besides, the capacity of ultrasound to stimulate the cerebellum remains underestimated. OBJECTIVE: To validate the direct neuromodulation effects of ultrasound on the cerebellar cortex from both cellular and behavioral levels...
May 26, 2023: Brain Stimulation
https://read.qxmd.com/read/37170076/peri-ictal-eeg-in-infants-with-prrt2-related-self-limited-infantile-epilepsy
#26
JOURNAL ARTICLE
Nicola Fearn, Emma Macdonald-Laurs, Laura Moylan, Katherine B Howell
OBJECTIVE: Pathogenic PRRT2 variants cause self-limited (familial) infantile epilepsy (SeLIE), which is responsive to sodium channel blocking antiseizure medications. The interictal EEG is typically normal. We describe a cohort of infants with PRRT2-related SeLIE with striking peri-ictal EEG abnormalities. METHODS: We included all infants diagnosed with PRRT2-related SeLIE during July 2020 to November 2021 at the Royal Children's Hospital, Melbourne. Clinical features and results of aetiologic investigations were collected from electronic medical records...
May 11, 2023: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/36958475/the-intramembrane-cooh-terminal-domain-of-prrt2-regulates-voltage-dependent-na-channels
#27
JOURNAL ARTICLE
Francesca Franchi, Antonella Marte, Beatrice Corradi, Bruno Sterlini, Giulio Alberini, Alessandra Romei, Antonio De Fusco, Alexander Vogel, Luca Maragliano, Pietro Baldelli, Anna Corradi, Pierluigi Valente, Fabio Benfenati
Proline-rich transmembrane protein 2 (PRRT2) is the single causative gene for pleiotropic paroxysmal syndromes, including epilepsy, kinesigenic dyskinesia, episodic ataxia, and migraine. PRRT2 is a neuron-specific type-2 membrane protein with a COOH-terminal intramembrane domain and a long proline-rich NH2 -terminal cytoplasmic region. A large array of experimental data indicates that PRRT2 is a neuron stability gene that negatively controls intrinsic excitability by regulating surface membrane localization and biophysical properties of voltage-dependent Na+ channels Nav1...
May 2023: Journal of Biological Chemistry
https://read.qxmd.com/read/36883047/genetic-links-to-episodic-movement-disorders-current-insights
#28
REVIEW
Divyani Garg, Shekeeb Mohammad, Anju Shukla, Suvasini Sharma
Episodic or paroxysmal movement disorders (PxMD) are conditions, which occur episodically, are transient, usually have normal interictal periods, and are characterized by hyperkinetic disorders, including ataxia, chorea, dystonia, and ballism. Broadly, these comprise paroxysmal dyskinesias (paroxysmal kinesigenic and non-kinesigenic dyskinesia [PKD/PNKD], paroxysmal exercise-induced dyskinesias [PED]) and episodic ataxias (EA) types 1-9. Classification of paroxysmal dyskinesias has traditionally been clinical...
2023: Application of Clinical Genetics
https://read.qxmd.com/read/36856871/tmem151a-variants-associated-with-paroxysmal-kinesigenic-dyskinesia
#29
JOURNAL ARTICLE
Hua Lin Huang, Qing Xia Zhang, Fei Huang, Xiao Yan Long, Zhi Song, Bo Xiao, Guo Liang Li, Cai Yu Ma, Ding Liu
TMEM151A, located at 11q13.2 and encoding transmembrane protein 151A, was recently reported as causative for autosomal dominant paroxysmal kinesigenic dyskinesia (PKD). Here, through comprehensive analysis of sporadic and familial cases, we expand the clinical and mutation spectrum of PKD. In doing so, we clarify the clinical and genetic features of Chinese PKD patients harboring TMEM151A variants and further explore the relationship between TMEM151A mutations and PKD. Whole exome sequencing was performed on 26 sporadic PKD patients and nine familial PKD pedigrees without PRRT2 variants...
March 1, 2023: Human Genetics
https://read.qxmd.com/read/36781563/novel-missense-variant-in-the-tmem151a-gene-causing-paroxysmal-kinesigenic-dyskinesia-a-case-report-with-literature-review
#30
JOURNAL ARTICLE
Yue Liu, Liang Wang, Zhenfei Li, Guang Ji, Yaling Liu
BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder with high clinical and genetic heterogeneity. Proline-rich transmembrane protein 2 (PRRT2) was identified as the first causative gene for PKD in 2011. Recently, heterozygous variants in transmembrane protein 151A (TMEM151A) were identified as another pathogenic cause of PKD. CASE DESCRIPTION: A 16-year-old man diagnosed with PKD exhibited hemidystonia triggered by sudden voluntary movements...
February 13, 2023: Neurological Sciences
https://read.qxmd.com/read/36718795/the-pathogenesis-of-paroxysmal-kinesigenic-dyskinesia-current-concepts
#31
REVIEW
Zi-Yi Li, Wo-Tu Tian, Xiao-Jun Huang, Li Cao
Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder characterized by recurrent and transient episodes of involuntary movements, including dystonia, chorea, ballism, or a combination of these, which are typically triggered by sudden voluntary movement. Disturbance of the basal ganglia-thalamo-cortical circuit has long been considered the cause of involuntary movements. Impairment of the gating function of the basal ganglia can cause an aberrant output toward the thalamus, which in turn leads to excessive activation of the cerebral cortex...
January 31, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/36467477/clinical-characteristics-and-genetics-of-ten-chinese-children-with-prrt2-associated-neurological-diseases
#32
JOURNAL ARTICLE
Meiyan Liu, Xiaoang Sun, Longlong Lin, Xiaona Luo, Simei Wang, Chunmei Wang, Yuanfeng Zhang, Quanmei Xu, Wuhen Xu, Shengnan Wu, Xiaoping Lan, Yucai Chen
BACKGROUND: Proline-rich transmembrane protein 2 (PRRT2) plays an important role in the central nervous system and mutations in the gene are implicated in a variety of neurological disorders. This study aimed to summarize the clinical characteristics and gene expression analysis of neurological diseases related to the PRRT2 gene and explore the clinical characteristics, therapeutic effects, and possible pathogenic mechanisms of related diseases. METHODS: We enrolled 10 children with PRRT2 mutation-related neurological diseases who visited the Children's Hospital affiliated with the Shanghai Jiaotong University School of Medicine/Shanghai Children's Hospital between May 2017 and February 2022...
2022: Frontiers in Pediatrics
https://read.qxmd.com/read/36441479/a-push-pull-mechanism-between-prrt2-and-%C3%AE-4-subunit-differentially-regulates-membrane-exposure-and-biophysical-properties-of-nav1-2-sodium-channels
#33
JOURNAL ARTICLE
Pierluigi Valente, Antonella Marte, Francesca Franchi, Bruno Sterlini, Silvia Casagrande, Anna Corradi, Pietro Baldelli, Fabio Benfenati
Proline-rich transmembrane protein 2 (PRRT2) is a neuron-specific protein implicated in the control of neurotransmitter release and neural network stability. Accordingly, PRRT2 loss-of-function mutations associate with pleiotropic paroxysmal neurological disorders, including paroxysmal kinesigenic dyskinesia, episodic ataxia, benign familial infantile seizures, and hemiplegic migraine. PRRT2 is a negative modulator of the membrane exposure and biophysical properties of Na+ channels NaV 1.2/NaV 1.6 predominantly expressed in brain glutamatergic neurons...
November 28, 2022: Molecular Neurobiology
https://read.qxmd.com/read/36114926/elderly-onset-paroxysmal-kinesigenic-dyskinesia-a-case-report
#34
JOURNAL ARTICLE
Lulu Yao, Wei Liang, Shanshan Mei, Erhe Xu, Xiaobo Huang
Paroxysmal kinesigenic dyskinesia (PKD) is characterized by transient and recurrent involuntary movements that are triggered by a sudden movement. Here, we report an elderly female patient with a 1-month history of paroxysmal rigidity of the right limb. As the symptoms were characterized as paroxysmal, transient, and repetitive, her condition was initially thought to be epilepsy. Subsequent examinations showed no abnormality in the continuous video-electroencephalogram (EEG) monitoring, magnetic resonance imaging (MRI), fluorodeoxyglucose (FDG)-positron emission tomography (PET)/computed tomography (CT), and genetic testing...
December 2022: Neurology and Therapy
https://read.qxmd.com/read/35959395/-prrt2-gene-mutations-associated-with-infantile-convulsions-induced-by-sucking-and-the-genotype-phenotype-correlation
#35
JOURNAL ARTICLE
De-Tian Liu, Xue-Qing Tang, Rui-Ping Wan, Sheng Luo, Bao-Zhu Guan, Bin Li, Li-Hong Liu, Bing-Mei Li, Zhi-Gang Liu, Long-Shan Xie, Yong-Hong Yi
Introduction: PRRT2 is a major causative gene for self-limited familial neonatal-infantile epilepsy, paroxysmal kinesigenic dyskinesia, and paroxysmal kinesigenic dyskinesia with infantile convulsions. Voluntary movement trigger is prominent in adolescence and adulthood, but the triggers are unknown in infants. Methods: A gene panel designed for targeted next-generation sequencing (NGS) was used to screen genetic abnormalities in a cohort of 45 cases with infantile convulsions...
2022: Frontiers in Neurology
https://read.qxmd.com/read/35880380/multiple-sclerosis-related-paroxysmal-kinesigenic-dyskinesia-long-term-favorable-response-to-lacosamide
#36
JOURNAL ARTICLE
Vasiliki Poulidou, Martha Spilioti, Maria Moschou, Nickolas Papanikolaou, Antonios Drevelegas, Sotirios Papagiannopoulos, Dimitrios Kazis, Vasilios K Kimiskidis
No abstract text is available yet for this article.
September 2022: Journal of Movement Disorders
https://read.qxmd.com/read/35727387/tmem151a-phenotypic-spectrum-includes-paroxysmal-kinesigenic-dyskinesia-with-infantile-convulsions
#37
JOURNAL ARTICLE
Huan Wang, Pengcheng Huang, Min Zhu, Xin Fang, Chensi Wu, Daojun Hong
In a three-generation family, five individuals exhibited the typical phenotype of paroxysmal kinesigenic dyskinesia (PKD). Intriguingly, one of the individuals also showed benign familial infantile convulsions (BFIC) at age 4 months and spontaneously resolved at age 18 months. At age 12, she developed a typical PKD, and was gradually relieved at age 21. Therefore, the clinical phenotype was consistent with PKD with infantile convulsions (PKD/IC). Whole exome sequence and co-segregation analysis revealed a novel heterozygous variant c...
June 21, 2022: Neurological Sciences
https://read.qxmd.com/read/35712060/-prrt2-mutation-in-a-japanese-woman-adult-onset-focal-epilepsy-coexisting-with-movement-disorders-and-cerebellar-atrophy
#38
Rie Motoyama, Takashi Matsudaira, Kiyohito Terada, Naotaka Usui, Koh-Ichiro Yoshiura, Yukitoshi Takahashi
Proline-rich transmembrane protein 2 ( PRRT2 ) was confirmed as the causative gene of paroxysmal kinesigenic dyskinesia (PKD) as shown by genome-wide linkage analyses. PRRT2 mutations are also associated with benign familial infantile seizures, infantile convulsions and choreoathetosis, and childhood absence epilepsy, but few reports have investigated adult-onset epilepsy. We describe here a rare presentation of adult-onset focal epilepsy with a PRRT2 mutation in a 31-year-old woman who showed cerebellar atrophy, familial paroxysmal kinesigenic dyskinesia, and paroxysmal non-kinesigenic dystonia...
2022: Epilepsy & behavior reports
https://read.qxmd.com/read/35707035/screening-of-the-tmem151a-gene-in-patients-with-paroxysmal-kinesigenic-dyskinesia-and-other-movement-disorders
#39
JOURNAL ARTICLE
Ling-Yan Ma, Lin Han, Meng Niu, Lu Chen, Ya-Zhen Yu, Tao Feng
Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by recurrent involuntary movements usually triggered by sudden movements. Mutations in the TMEM151A gene were found to be the causative factor of PKD in recent studies. It has also been revealed that loss-of-function is the mechanism by which TMEM151A mutations cause PKD. Methods: To investigate the genetic basis of PKD and broaden the clinical spectrum of the TMEM151A mutations, we recruited 181 patients of Chinese origin with movement disorders (MDs), including 39 PRRT2 -negative PKD, 3 paroxysmal exercise-induced dyskinesia (PED), 2 paroxysmal non-kinesigenic dyskinesia (PNKD), 127 isolated dystonia, 8 choreas, and 2 myoclonus-dystonia syndromes...
2022: Frontiers in Neurology
https://read.qxmd.com/read/35617967/haploinsufficiency-of-prrt2-leading-to-familial-hemiplegic-migraine-in-chromosome-16p11-2-deletion-syndrome
#40
JOURNAL ARTICLE
Kuntal Sen, Ilyse Genser, Marc DiFazio, Marc DiSabella
Microdeletion in the 16p11.2 loci lead to a distinct neurodevelopmental disorder with intellectual disability and autism spectrum disorder in addition to dysmorphia, macrocephaly, and increased body mass index. One of the deleted genes in this region is PRRT2 which codes for proline-rich transmembrane protein 2. Heterozygous variants in PRRT2 cause four distinct neurological disorders including benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia (PKD), PKD with infantile convulsions, and familial hemiplegic migraine (FHM)...
August 2022: Neuropediatrics
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