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Most-download articles are from the articles published in 2021 during the last three month.

Review Articles
GBA1 Variants and Parkinson’s Disease: Paving the Way for Targeted Therapy
Young Eun Huh, Tatiana Usnich, Clemens R. Scherzer, Christine Klein, Sun Ju Chung
J Mov Disord. 2023;16(3):261-278.   Published online June 12, 2023
DOI: https://doi.org/10.14802/jmd.23023
  • 1,342 View
  • 234 Download
AbstractAbstract PDF
Glucosylceramidase beta 1 (GBA1) variants have attracted enormous attention as the most promising and important genetic candidates for precision medicine in Parkinson’s disease (PD). A substantial correlation between GBA1 genotypes and PD phenotypes could inform the prediction of disease progression and promote the development of a preventive intervention for individuals at a higher risk of a worse disease prognosis. Moreover, the GBA1-regulated pathway provides new perspectives on the pathogenesis of PD, such as dysregulated sphingolipid metabolism, impaired protein quality control, and disrupted endoplasmic reticulum-Golgi trafficking. These perspectives have led to the development of novel disease-modifying therapies for PD targeting the GBA1-regulated pathway by repositioning treatment strategies for Gaucher’s disease. This review summarizes the current hypotheses on a mechanistic link between GBA1 variants and PD and possible therapeutic options for modulating GBA1-regulated pathways in PD patients.
Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution
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
J Mov Disord. 2023;16(3):231-247.   Published online June 13, 2023
DOI: https://doi.org/10.14802/jmd.23065
  • 1,535 View
  • 181 Download
AbstractAbstract PDFSupplementary Material
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. The Movement Disorders in Asia Task Force (TF) was formed to help enhance and promote collaboration and research on movement disorders within the region. As a start, the TF has reviewed the original studies of the movement disorders that were preliminarily described in the region. These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. We hope that the information provided will honor the original researchers and help us learn and understand how earlier neurologists and basic scientists together discovered new disorders and made advances in the field, which impact us all to this day.
Adult-Onset Genetic Leukoencephalopathies With Movement Disorders
Mu-Hui Fu, Yung-Yee Chang
J Mov Disord. 2023;16(2):115-132.   Published online March 7, 2023
DOI: https://doi.org/10.14802/jmd.22127
  • 2,834 View
  • 273 Download
  • 1 Comments
AbstractAbstract PDF
Genetic leukoencephalopathies (GLEs) are a group of white matter abnormalities with heterogeneous radiological and phenotypic features. Although these conditions have mostly been described in children, adult-onset cases are increasingly recognized owing to the widespread use of neuroimaging and advances in molecular genetic testing. The disease course is often progressive with a varied spectrum of presentations, trapping neurologists in the dilemma of differential diagnosis. Movement disorders are among the most common symptoms, and their diversity makes diagnosis challenging. In this review, we focus on adult-onset GLEs with movement disorders and offer a step-by-step diagnostic approach by clarifying the phenomenology of movement, advising investigations for acquired causes, describing the clinical and radiological clues to each disease, emphasizing the limitations of advanced molecular testing, and discussing the future application of artificial intelligence. We provide a list summarizing the leukoencephalopathies associated with different categories of movement disorders. In addition to guiding clinicians on how to narrow the list of differential diagnoses with the tools currently available, another aim of this review is to emphasize the inevitable trend toward applying advanced technology in diagnosing these difficult diseases.
Original Article
KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort
Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Neeharika Sriram, Jitender Saini, Ravi Yadav, Akhilesh Pandey, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
J Mov Disord. 2023;16(3):285-294.   Published online June 13, 2023
DOI: https://doi.org/10.14802/jmd.23035
  • 1,390 View
  • 130 Download
AbstractAbstract PDFSupplementary Material
Objective
aaMutations in the KMT2B gene have been identified in patients previously diagnosed with idiopathic dystonia. Literature on KMT2B-related dystonia is sparse in the Indian and Asian populations.
Methods
aaWe report seven patients with KMT2B-related dystonia studied prospectively from May 2021 to September 2022. Patients underwent deep clinical phenotyping and genetic testing by whole-exome sequencing (WES). A systematic literature search was performed to identify the spectrum of previously published KMT2B-related disorders in the Asian subcontinent.
Results
aaThe seven identified patients with KMT2B-related dystonia had a median age at onset of four years. The majority experienced onset in the lower limbs (n = 5, 71.4%), with generalization at a median duration of 2 years. All patients except one had complex phenotypes manifesting as facial dysmorphism (n = 4), microcephaly (n = 3), developmental delay (n = 3), and short stature (n = 1). Magnetic resonance imaging (MRI) abnormalities were present in four cases. WES revealed novel mutations in the KMT2B gene in all patients except one. Compared to the largest cohort of patients with KMT2B-related disorders, the Asian cohort, comprising 42 patients, had a lower prevalence of female patients, facial dysmorphism, microcephaly, intellectual disability, and MRI abnormalities. Protein-truncating variants were more prevalent than missense variants. While microcephaly and short stature were more common in patients with missense mutations, facial dysmorphism was more common in patients with truncating variants. Deep brain stimulation, performed in 17 patients, had satisfactory outcomes.
Conclusion
aaThis is the largest series of patients with KMT2B-related disorders from India, further expanding the clinico-genotypic spectrum. The extended Asian cohort emphasizes the unique attributes of this part of the world.
Review Articles
Multiple System Atrophy: Advances in Diagnosis and Therapy
Hirohisa Watanabe, Sayuri Shima, Yasuaki Mizutani, Akihiro Ueda, Mizuki Ito
J Mov Disord. 2023;16(1):13-21.   Published online December 20, 2022
DOI: https://doi.org/10.14802/jmd.22082
  • 2,825 View
  • 362 Download
AbstractAbstract PDF
This review summarizes improvements in understanding the pathophysiology and early clinical symptoms of multiple system atrophy (MSA) and advancements in diagnostic methods and disease-modifying therapies for the condition. In 2022, the Movement Disorder Society proposed new diagnostic criteria to develop disease-modifying therapies and promote clinical trials of MSA since the second consensus was proposed in 2008. Regarding pathogenesis, cutting-edge findings have accumulated on the interactions of α-synuclein, neuroinflammation, and oligodendroglia with neurons. In neuroimaging, introducing artificial intelligence, machine learning, and deep learning has notably improved diagnostic accuracy and individual analyses. Advancements in treatment have also been achieved, including immunotherapy therapy against α-synuclein and serotonin-targeted and mesenchymal stem cell therapies, which are thought to affect several aspects of the disease, including neuroinflammation. The accelerated progress in clarifying the pathogenesis of MSA over the past few years and the development of diagnostic techniques for detecting early-stage MSA are expected to facilitate the development of disease-modifying therapies for one of the most intractable neurodegenerative diseases.
Diagnosis and Clinical Features in Autoimmune-Mediated Movement Disorders
Pei-Chen Hsieh, Yih-Ru Wu
J Mov Disord. 2022;15(2):95-105.   Published online May 26, 2022
DOI: https://doi.org/10.14802/jmd.21077
  • 3,620 View
  • 497 Download
AbstractAbstract PDFSupplementary Material
Movement disorders are common manifestations in autoimmune-mediated encephalitis. This group of diseases is suspected to be triggered by infection or neoplasm. Certain phenotypes correlate with specific autoantibody-related neurological disorders, such as orofacial-lingual dyskinesia with N-methyl-D-aspartate receptor encephalitis and faciobrachial dystonic seizures with leucine-rich glioma-inactivated protein 1 encephalitis. Early diagnosis and treatment, especially for autoantibodies targeting neuronal surface antigens, can improve prognosis. In contrast, the presence of autoantibodies against intracellular neuronal agents warrants screening for underlying malignancy. However, early clinical diagnosis is challenging because these diseases can be misdiagnosed. In this article, we review the distinctive clinical phenotypes, magnetic resonance imaging findings, and current treatment options for autoimmune-mediated encephalitis.
Immune-Mediated Cerebellar Ataxias: Clinical Diagnosis and Treatment Based on Immunological and Physiological Mechanisms
Hiroshi Mitoma, Mario Manto, Marios Hadjivassiliou
J Mov Disord. 2021;14(1):10-28.   Published online January 12, 2021
DOI: https://doi.org/10.14802/jmd.20040
  • 15,791 View
  • 702 Download
  • 25 Citations
AbstractAbstract PDF
Since the first description of immune-mediated cerebellar ataxias (IMCAs) by Charcot in 1868, several milestones have been reached in our understanding of this group of neurological disorders. IMCAs have diverse etiologies, such as gluten ataxia, postinfectious cerebellitis, paraneoplastic cerebellar degeneration, opsoclonus myoclonus syndrome, anti-GAD ataxia, and primary autoimmune cerebellar ataxia. The cerebellum, a vulnerable autoimmune target of the nervous system, has remarkable capacities (collectively known as the cerebellar reserve, closely linked to plasticity) to compensate and restore function following various pathological insults. Therefore, good prognosis is expected when immune-mediated therapeutic interventions are delivered during early stages when the cerebellar reserve can be preserved. However, some types of IMCAs show poor responses to immunotherapies, even if such therapies are introduced at an early stage. Thus, further research is needed to enhance our understanding of the autoimmune mechanisms underlying IMCAs, as such research could potentially lead to the development of more effective immunotherapies. We underscore the need to pursue the identification of robust biomarkers.

Citations

Citations to this article as recorded by  
  • Autoimmunologische Kleinhirnerkrankungens
    Niklas Vogel, Christian Hartmann, Sven Meuth, Nico Melzer
    Nervenheilkunde.2023; 42(01/02): 73.     CrossRef
  • Evaluation and management of acute high-grade immunotherapy-related neurotoxicity
    Marcelo Sandoval, Adriana H. Wechsler, Zahra Alhajji, Jayne Viets-Upchurch, Patricia Brock, Demis N. Lipe, Aisha Al-breiki, Sai-Ching J. Yeung
    Heliyon.2023; 9(3): e13725.     CrossRef
  • Consensus Paper: Latent Autoimmune Cerebellar Ataxia (LACA)
    Mario Manto, Marios Hadjivassiliou, José Fidel Baizabal-Carvallo, Christiane S Hampe, Jerome Honnorat, Bastien Joubert, Hiroshi Mitoma, Sergio Muñiz-Castrillo, Aasef G. Shaikh, Alberto Vogrig
    The Cerebellum.2023;[Epub]     CrossRef
  • Proinflammatory activation of microglia in the cerebellum hyperexcites Purkinje cells to trigger ataxia
    Shu-Tao Xie, Wen-Chu Fan, Xian-Sen Zhao, Xiao-Yang Ma, Ze-Lin Li, Yan-Ran Zhao, Fa Yang, Ying Shi, Hui Rong, Zhi-San Cui, Jun-Yi Chen, Hong-Zhao Li, Chao Yan, Qipeng Zhang, Jian-Jun Wang, Xiao-Yang Zhang, Xiao-Ping Gu, Zheng-Liang Ma, Jing-Ning Zhu
    Pharmacological Research.2023; 191: 106773.     CrossRef
  • Immune-related adverse events and immune checkpoint inhibitors: a focus on neurotoxicity and clinical management
    Rosanna Ruggiero, Raffaella Di Napoli, Nunzia Balzano, Donatella Ruggiero, Consiglia Riccardi, Antonietta Anatriello, Andrea Cantone, Liberata Sportiello, Francesco Rossi, Annalisa Capuano
    Expert Review of Clinical Pharmacology.2023; 16(5): 423.     CrossRef
  • Immune-mediated ataxias: Guide to clinicians
    Alex T. Meira, Marianna P.M. de Moraes, Matheus G. Ferreira, Gustavo L. Franklin, Flávio M. Rezende Filho, Hélio A.G. Teive, Orlando G.P. Barsottini, José Luiz Pedroso
    Parkinsonism & Related Disorders.2023; : 105861.     CrossRef
  • Gluten Ataxia: an Underdiagnosed Condition
    Marios Hadjivassiliou, R. A. Grϋnewald
    The Cerebellum.2022; 21(4): 620.     CrossRef
  • Clinical Problem Solving: Decreased Level of Consciousness and Unexplained Hydrocephalus
    Naomi Niznick, Ronda Lun, Daniel A. Lelli, Tadeu A. Fantaneanu
    The Neurohospitalist.2022; 12(2): 312.     CrossRef
  • Pharmacotherapy of cerebellar and vestibular disorders
    João Lemos, Mario Manto
    Current Opinion in Neurology.2022; 35(1): 118.     CrossRef
  • Advances in the Pathogenesis of Auto-antibody-Induced Cerebellar Synaptopathies
    Hiroshi Mitoma, Mario Manto
    The Cerebellum.2022; 22(1): 129.     CrossRef
  • A Breakdown of Immune Tolerance in the Cerebellum
    Christiane S. Hampe, Hiroshi Mitoma
    Brain Sciences.2022; 12(3): 328.     CrossRef
  • Acute Cerebellar Inflammation and Related Ataxia: Mechanisms and Pathophysiology
    Md. Sorwer Alam Parvez, Gen Ohtsuki
    Brain Sciences.2022; 12(3): 367.     CrossRef
  • A Case Report of Anti-PCA-2-Positive Autoimmune Cerebellitis
    霞 董
    Advances in Clinical Medicine.2022; 12(04): 3272.     CrossRef
  • Cell-Autonomous Processes That Impair Xenograft Survival into the Cerebellum
    Lorenzo Magrassi, Giulia Nato, Domenico Delia, Annalisa Buffo
    The Cerebellum.2022; 21(5): 821.     CrossRef
  • Diagnosis and Clinical Features in Autoimmune-Mediated Movement Disorders
    Pei-Chen Hsieh, Yih-Ru Wu
    Journal of Movement Disorders.2022; 15(2): 95.     CrossRef
  • Autoimmune cerebellar ataxia associated with anti-leucine-rich glioma-inactivated protein 1 antibodies: Two pediatric cases
    Zhang Weihua, Ren Haitao, Deng Jie, Ren Changhong, Zhou Ji, Zhou Anna, Guan Hongzhi, Ren Xiaotun
    Journal of Neuroimmunology.2022; 370: 577918.     CrossRef
  • Anti-dipeptidyl-peptidase-like protein 6 encephalitis with pure cerebellar ataxia: a case report
    Jing Lin, Min Zhu, Xiaocheng Mao, Zeqing Jin, Meihong Zhou, Daojun Hong
    BMC Neurology.2022;[Epub]     CrossRef
  • Central Positional Nystagmus
    Ana Inês Martins, André Jorge, João Lemos
    Current Treatment Options in Neurology.2022; 24(10): 453.     CrossRef
  • Paraneoplastic Ataxia: Antibodies at the Forefront Have Become Routine Biomarkers
    Lazaros C. Triarhou, Mario Manto
    The Cerebellum.2022; 22(4): 534.     CrossRef
  • Rare Etiologies in Immune-Mediated Cerebellar Ataxias: Diagnostic Challenges
    Marios Hadjivassiliou, Mario Manto, Hiroshi Mitoma
    Brain Sciences.2022; 12(9): 1165.     CrossRef
  • Paraneoplastic syndromes in neuro-ophthalmology
    SimonJ Hickman
    Annals of Indian Academy of Neurology.2022; 25(8): 101.     CrossRef
  • Immunotherapies for the Effective Treatment of Primary Autoimmune Cerebellar Ataxia: a Case Series
    Jiao Li, Bo Deng, Wenli Song, Keru Li, Jingwen Ai, Xiaoni Liu, Haocheng Zhang, Yi Zhang, Ke Lin, Guofu Shao, Chunfeng Liu, Wenhong Zhang, Xiangjun Chen, Yanlin Zhang
    The Cerebellum.2022;[Epub]     CrossRef
  • Evaluation and Management of Acute High-Grade Immunotherapy-Related Neurotoxicity
    Marcelo Sandoval, Adriana H. Wechsler, Zahra Alhajji, Jayne Viets-Upchurch, Patricia A. Brock, Demis N. Lipe, Aisha Al-Buraiki, Sai-Ching Jim Yeung
    SSRN Electronic Journal .2022;[Epub]     CrossRef
  • Stiff-Eye Syndrome—Anti-GAD Ataxia Presenting with Isolated Ophthalmoplegia: A Case Report
    Abel Dantas Belém, Thaís de Maria Frota Vasconcelos, Rafael César dos Anjos de Paula, Francisco Bruno Santana da Costa, Pedro Gustavo Barros Rodrigues, Isabelle de Sousa Pereira, Paulo Roberto de Arruda Tavares, Gabriela Studart Galdino, Daniel Aguiar Dia
    Brain Sciences.2021; 11(7): 932.     CrossRef
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    Philipp Alexander Loehrer, Lara Zieger, Ole J. Simon
    Brain Sciences.2021; 11(11): 1414.     CrossRef
Original Article
Spatiotemporal Gait Parameters in Adults With Premanifest and Manifest Huntington’s Disease: A Systematic Review
Sasha Browning, Stephanie Holland, Ian Wellwood, Belinda Bilney
J Mov Disord. 2023;16(3):307-320.   Published online August 10, 2023
DOI: https://doi.org/10.14802/jmd.23111
  • 660 View
  • 62 Download
AbstractAbstract PDFSupplementary Material
Objective
To systematically review and critically evaluate literature on spatiotemporal gait deviations in individuals with premanifest and manifest Huntington’s Disease (HD) in comparison with healthy cohorts.
Methods
We conducted a systematic review, guided by the Joanna Briggs Institute’s Manual for Evidence Synthesis and pre-registered with the International Prospective Register of Systematic Reviews. Eight electronic databases were searched. Studies comparing spatiotemporal footstep parameters in adults with premanifest and manifest HD to healthy controls were screened, included and critically appraised by independent reviewers. Data on spatiotemporal gait changes and variability were extracted and synthesised. Meta-analysis was performed on gait speed, cadence, stride length and stride length variability measures.
Results
We screened 2,721 studies, identified 1,245 studies and included 25 studies (total 1,088 participants). Sample sizes ranged from 14 to 96. Overall, the quality of the studies was assessed as good, but reporting of confounding factors was often unclear. Meta-analysis found spatiotemporal gait deviations in participants with HD compared to healthy controls, commencing in the premanifest stage. Individuals with premanifest HD walk significantly slower (-0.17 m/s; 95% confidence interval [CI] [-0.22, -0.13]), with reduced cadence (-6.63 steps/min; 95% CI [-10.62, -2.65]) and stride length (-0.09 m; 95% CI [-0.13, -0.05]). Stride length variability was also increased in premanifest cohorts by 2.18% (95% CI [0.69, 3.68]), with these changes exacerbated in participants with manifest disease.
Conclusion
Findings suggest individuals with premanifest and manifest HD display significant spatiotemporal footstep deviations. Clinicians could monitor individuals in the premanifest stage of disease for gait changes to identify the onset of Huntington’s symptoms.
Review Articles
Historical and More Common Nongenetic Movement Disorders From Asia
Norlinah Mohamed Ibrahim, Priya Jagota, Pramod Kumar Pal, Roongroj Bhidayasiri, Shen-Yang Lim, Yoshikazu Ugawa, Zakiyah Aldaajani, Beomseok Jeon, Shinsuke Fujioka, Jee-Young Lee, Prashanth Lingappa Kukkle, Huifang Shang, Onanong Phokaewvarangkul, Cid Diesta, Cholpon Shambetova, Chin-Hsien Lin
J Mov Disord. 2023;16(3):248-260.   Published online June 9, 2023
DOI: https://doi.org/10.14802/jmd.22224
  • 1,190 View
  • 89 Download
AbstractAbstract PDFSupplementary Material
Nongenetic movement disorders are common throughout the world. The movement disorders encountered may vary depending on the prevalence of certain disorders across various geographical regions. In this paper, we review historical and more common nongenetic movement disorders in Asia. The underlying causes of these movement disorders are diverse and include, among others, nutritional deficiencies, toxic and metabolic causes, and cultural Latah syndrome, contributed by geographical, economic, and cultural differences across Asia. The industrial revolution in Japan and Korea has led to diseases related to environmental toxin poisoning, such as Minamata disease and β-fluoroethyl acetate-associated cerebellar degeneration, respectively, while religious dietary restriction in the Indian subcontinent has led to infantile tremor syndrome related to vitamin B12 deficiency. In this review, we identify the salient features and key contributing factors in the development of these disorders.
Current Status and Future Perspectives on Stem Cell-Based Therapies for Parkinson’s Disease
Young Cha, Tae-Yoon Park, Pierre Leblanc, Kwang-Soo Kim
J Mov Disord. 2023;16(1):22-41.   Published online January 12, 2023
DOI: https://doi.org/10.14802/jmd.22141
  • 4,169 View
  • 380 Download
  • 3 Citations
AbstractAbstract PDF
Parkinson’s disease (PD) is the second most common neurodegenerative disorder after Alzheimer’s disease, affecting 1%–2% of the population over the age of 65. As the population ages, it is anticipated that the burden on society will significantly escalate. Although symptom reduction by currently available pharmacological and/or surgical treatments improves the quality of life of many PD patients, there are no treatments that can slow down, halt, or reverse disease progression. Because the loss of a specific cell type, midbrain dopamine neurons in the substantia nigra, is the main cause of motor dysfunction in PD, it is considered a promising target for cell replacement therapy. Indeed, numerous preclinical and clinical studies using fetal cell transplantation have provided proof of concept that cell replacement therapy may be a viable therapeutic approach for PD. However, the use of human fetal cells remains fraught with controversy due to fundamental ethical, practical, and clinical limitations. Groundbreaking work on human pluripotent stem cells (hPSCs), including human embryonic stem cells and human induced pluripotent stem cells, coupled with extensive basic research in the stem cell field offers promising potential for hPSC-based cell replacement to become a realistic treatment regimen for PD once several major issues can be successfully addressed. In this review, we will discuss the prospects and challenges of hPSC-based cell therapy for PD.

Citations

Citations to this article as recorded by  
  • Potential for Therapeutic-Loaded Exosomes to Ameliorate the Pathogenic Effects of α-Synuclein in Parkinson’s Disease
    David J. Rademacher
    Biomedicines.2023; 11(4): 1187.     CrossRef
  • Neural Stem Cell Therapies: Promising Treatments for Neurodegenerative Diseases
    Amir Gholamzad, Hadis Sadeghi, Maryam Azizabadi Farahani, Ali Faraji, Mahya Rostami, Sajad Khonche, Shirin Kamrani, Mahsa Khatibi, Omid Moeini, Seyed Armit Hosseini, Mohammadmatin Nourikhani, Mehrdad Gholamzad
    Neurology Letters.2023; 2(2): 55.     CrossRef
  • Should continuous dopaminergic stimulation be a standard of care in advanced Parkinson’s disease?
    Z. Pirtošek, V. Leta, P. Jenner, M. Vérin
    Journal of Neural Transmission.2023; 130(11): 1395.     CrossRef
Treatable Ataxias: How to Find the Needle in the Haystack?
Albert Stezin, Pramod Kumar Pal
J Mov Disord. 2022;15(3):206-226.   Published online September 7, 2022
DOI: https://doi.org/10.14802/jmd.22069
  • 4,565 View
  • 462 Download
  • 1 Citations
AbstractAbstract PDF
Treatable ataxias are a group of ataxic disorders with specific treatments. These disorders include genetic and metabolic disorders, immune-mediated ataxic disorders, and ataxic disorders associated with infectious and parainfectious etiology, vascular causes, toxins and chemicals, and endocrinopathies. This review provides a comprehensive overview of different treatable ataxias. The major metabolic and genetic treatable ataxic disorders include ataxia with vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann-Pick disease type C, autosomal recessive cerebellar ataxia due to coenzyme Q10 deficiency, glucose transporter type 1 deficiency, and episodic ataxia type 2. The treatment of these disorders includes the replacement of deficient cofactors and vitamins, dietary modifications, and other specific treatments. Treatable ataxias with immune-mediated etiologies include gluten ataxia, anti-glutamic acid decarboxylase antibody-associated ataxia, steroid-responsive encephalopathy associated with autoimmune thyroiditis, Miller-Fisher syndrome, multiple sclerosis, and paraneoplastic cerebellar degeneration. Although dietary modification with a gluten-free diet is adequate in gluten ataxia, other autoimmune ataxias are managed by short-course steroids, plasma exchange, or immunomodulation. For autoimmune ataxias secondary to malignancy, treatment of tumor can reduce ataxic symptoms. Chronic alcohol consumption, antiepileptics, anticancer drugs, exposure to insecticides, heavy metals, and recreational drugs are potentially avoidable and treatable causes of ataxia. Infective and parainfectious causes of cerebellar ataxias include acute cerebellitis, postinfectious ataxia, Whipple’s disease, meningoencephalitis, and progressive multifocal leukoencephalopathy. These disorders are treated with steroids and antibiotics. Recognizing treatable disorders is of paramount importance when dealing with ataxias given that early treatment can prevent permanent neurological sequelae.

Citations

Citations to this article as recorded by  
  • Rehabilitation in ataxia
    Anupam Gupta, NavinB Prakash, Hafis Rahman
    Indian Journal of Physical Medicine & Rehabilitation.2023; 33(1): 21.     CrossRef
Original Article
Cervical proprioception in Parkinson's disease and its correlation with manual dexterity function
Özlem Menevşe, Büşra Kepenek-Varol, Murat Gültekin, Sevil Bilgin
J Mov Disord. 2023;16(3):295-306.   Published online July 3, 2023
DOI: https://doi.org/10.14802/jmd.23039
  • 894 View
  • 86 Download
AbstractAbstract PDF
Objective
Cervical proprioception plays a crucial role in posture and movement control. This study aimed to determine the relationships of cervical proprioception, cervical muscle strength and endurance with manual dexterity and hand strength in individuals with idiopathic Parkinson’s disease (PD).
Methods
Twenty individuals with PD (mean age: 63.9 years) and 20 healthy individuals as a control group (mean age: 61.9 years) were recruited. Cervical joint position error (JPE), static endurance of neck muscles, activation of deep cervical flexor muscles (Craniocervical Flexion Test, CCFT), manual dexterity (Purdue Pegboard Test, PPT), cognitive and motor tasks of the PPT, finger tapping test (FTT), pinch strength, and grip strength were assessed.
Results
Cervical JPE was significantly higher in individuals with PD than in controls (p < 0.05). The strength and endurance of the cervical muscles were significantly decreased in individuals with PD (p < 0.05). Cervical JPE measurements were negatively correlated with PPT, cognitive and motor tasks of the PPT in individuals with PD (all p < 0.05). The endurance of cervical flexor muscles was negatively correlated with PPT and cognitive PPT scores in the PD group (p < 0.05). In addition, a significant positive correlation was found between cervical flexor endurance and hand strength in the PD group (p < 0.05).
Conclusion
Cervical proprioception and the strength and endurance of cervical muscles decrease in individuals with PD compared to healthy individuals. Impairment of cervical proprioception appears to be associated with poorer upper extremity performance. Detailed evaluation of the cervical region in PD may help determine the factors affecting upper extremity function.
Review Article
The Supplementary Motor Complex in Parkinson’s Disease
Shervin Rahimpour, Shashank Rajkumar, Mark Hallett
J Mov Disord. 2022;15(1):21-32.   Published online November 25, 2021
DOI: https://doi.org/10.14802/jmd.21075
  • 4,962 View
  • 359 Download
  • 4 Citations
AbstractAbstract PDF
Parkinson’s disease (PD) is a neurodegenerative disorder characterized by both motor and nonmotor symptoms. Although the basal ganglia is traditionally the primary brain region implicated in this disease process, this limited view ignores the roles of the cortex and cerebellum that are networked with the basal ganglia to support motor and cognitive functions. In particular, recent research has highlighted dysfunction in the supplementary motor complex (SMC) in patients with PD. Using the PubMed and Google Scholar search engines, we identified research articles using keywords pertaining to the involvement of the SMC in action sequencing impairments, temporal processing disturbances, and gait impairment in patients with PD. A review of abstracts and full-text articles was used to identify relevant articles. In this review of 63 articles, we focus on the role of the SMC in PD, highlighting anatomical and functional data to create new perspectives in understanding clinical symptoms and, potentially, new therapeutic targets. The SMC has a nuanced role in the pathophysiology of PD, with both hypo- and hyperactivation associated with various symptoms. Further studies using more standardized patient populations and functional tasks are needed to more clearly elucidate the role of this region in the pathophysiology and treatment of PD.

Citations

Citations to this article as recorded by  
  • Sensorimotor network connectivity correlates with motor improvement after repetitive transcranial magnetic stimulation in patients with Parkinson's disease
    Shumei Chi, Xinrui Wen, Yang Yu, Guanjun Wang, Jie Zhang, Chuang Xue, Xiaoying Zhang, Zheng Wang, Meiduo Gesang, Jiefang Chen, Sha Wu, Man Jin, Jian Liu, Benyan Luo
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    Diego Alonzo Rodríguez-Méndez, Daniel San-Juan, Mark Hallett, Chris G. Antonopoulos, Erick López-Reynoso, Ricardo Lara-Ramírez
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    Jianyu Li, Yuanchao Zhang, Zitong Huang, Yihan Jiang, Zhanbing Ren, Daihong Liu, Jiuquan Zhang, Roberta La Piana, Yifan Chen
    npj Parkinson's Disease.2022;[Epub]     CrossRef
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JMD : Journal of Movement Disorders