Journal of Movement Disorders

Volume 10(2); May 2017

Review Article

Structure, Distribution, and Genetic Profile of α-Synuclein and Their Potential Clinical Application in Parkinson’s Disease: Xiaoli Si, Jiali Pu, Baorong Zhang; J Mov Disord. 2017;10(2):69-79. Published online May 8, 2017; DOI: https://doi.org/10.14802/jmd.16061

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Parkinson’s disease (PD), the second most common neurodegenerative disorder after Alzheimer’s disease, is characterized by the loss of nigral dopaminergic neurons. PD leads to a series of clinical symptoms, including motor and non-motor disturbances. α-synuclein, the major component of Lewy bodies, is a hallmark lesion in PD. In this review, we concentrate on presenting the latest research on the structure, distribution, and function of α-synuclein, and its interactions with PD. We also summarize the clinic applications of α-synuclein, which suggest its use as a biomarker, and the latest progress in α-synuclein therapy.

Citations

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Navigating the Gene Co-Expression Network and Drug Repurposing Opportunities for Brain Disorders Associated with Neurocognitive Impairment
Mathew Timothy Artuz Manuel, Lemmuel L. Tayo
Brain Sciences.2023; 13(11): 1564. CrossRef
Glymphatic Magnetic Resonance Imaging: Part II—Applications in Sleep and Neurodegenerative Diseases
Hyochul Lee, Roh-Eul Yoo, Seung Hong Choi
Investigative Magnetic Resonance Imaging.2023; 27(4): 208. CrossRef
An Enlarged Perivascular Space: Clinical Relevance and the Role of Imaging in Aging and Neurologic Disorders
Younghee Yim, Won-Jin Moon
Journal of the Korean Society of Radiology.2022; 83(3): 538. CrossRef
Studying the effect of alpha-synuclein and Parkinson’s disease linked mutants on inter pathway connectivities
Sagnik Sen, Ashmita Dey, Ujjwal Maulik
Scientific Reports.2021;[Epub] CrossRef
A novel role of NLRP3-generated IL-1β in the acute-chronic transition of peripheral lipopolysaccharide-elicited neuroinflammation: implications for sepsis-associated neurodegeneration
Zhan Zhao, Yubao Wang, Ran Zhou, Yi Li, Yun Gao, Dezhen Tu, Belinda Wilson, Sheng Song, Jing Feng, Jau-Shyong Hong, Jerrel L. Yakel
Journal of Neuroinflammation.2020;[Epub] CrossRef
Different Perivascular Space Burdens in Idiopathic Rapid Eye Movement Sleep Behavior Disorder and Parkinson’s Disease
Xiao-li Si, Lu-yan Gu, Zhe Song, Cheng Zhou, Yi Fang, Chong-yao Jin, Jing-jing Wu, Ting Gao, Tao Guo, Xiao-jun Guan, Xiao-jun Xu, Xin-zhen Yin, Ya-ping Yan, Min-min Zhang, Jia-li Pu
Frontiers in Aging Neuroscience.2020;[Epub] CrossRef
Central Nervous System-Derived Exosomal Alpha-Synuclein in Serum May Be a Biomarker in Parkinson’s Disease
Xiaoli Si, Jun Tian, Yanxing Chen, Yaping Yan, Jiali Pu, Baorong Zhang
Neuroscience.2019; 413: 308. CrossRef
Brain and Peripheral Atypical Inflammatory Mediators Potentiate Neuroinflammation and Neurodegeneration
Duraisamy Kempuraj, Ramasamy Thangavel, Govindhasamy P. Selvakumar, Smita Zaheer, Mohammad E. Ahmed, Sudhanshu P. Raikwar, Haris Zahoor, Daniyal Saeed, Prashant A. Natteru, Shankar Iyer, Asgar Zaheer
Frontiers in Cellular Neuroscience.2017;[Epub] CrossRef

Original Article

Comparison of Pallidal and Subthalamic Deep Brain Stimulation in Parkinson’s Disease: Therapeutic and Adverse Effects: Ho-Sung Ryu, Mi-Sun Kim, Sooyeoun You, Mi-Jung Kim, Young Jin Kim, Juyeon Kim, Kiju Kim, Sun Ju Chung; J Mov Disord. 2017;10(2):80-86. Published online May 8, 2017; DOI: https://doi.org/10.14802/jmd.17001

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Abstract PDF Supplementary Material

Objective
To compare the therapeutic and adverse effects of globus pallidus interna (GPi) and subthalamic nucleus (STN) deep brain stimulation (DBS) for the treatment of advanced Parkinson’s disease (PD).
Methods
We retrospectively analyzed the clinical data of patients with PD who underwent GPi (n = 14) or STN (n = 28) DBS surgery between April 2002 and May 2014. The subjects were matched for age at surgery and disease duration. The Unified Parkinson’s Disease Rating Scale (UPDRS) scores and levodopa equivalent dose (LED) at baseline and 12 months after surgery were used to assess the therapeutic effects of DBS. Adverse effects were also compared between the two groups.
Results
At 12 months, the mean changes in the UPDRS total and part I–IV scores did not differ significantly between the two groups. However, the subscores for gait disturbance/postural instability and dyskinesia were significantly more improved after GPi DBS than those after STN DBS (p = 0.024 and 0.016, respectively). The LED was significantly more reduced in patients after STN DBS than that after GPi DBS (p = 0.004). Serious adverse effects did not differ between the two groups (p = 0.697).
Conclusion
The patients with PD showed greater improvement in gait disturbance/postural instability and dyskinesia after GPi DBS compared with those after STN DBS, although the patients had a greater reduction in LED after STN DBS. These results may provide useful information for optimal target selection for DBS in PD.

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Long-term motor outcomes of deep brain stimulation of the globus pallidus interna in Parkinson's disease patients: Five-year follow-up
Yun Su Hwang, Sungyang Jo, Seung Hyun Lee, Nayoung Kim, Mi-Sun Kim, Sang Ryong Jeon, Sun Ju Chung
Journal of the Neurological Sciences.2023; 444: 120484. CrossRef
The Role of Microelectrode Recording in Deep Brain Stimulation Surgery for Parkinson’s Disease: A Systematic Review and Meta-Analysis
R. Saman Vinke, Martin Geerlings, Ashok K. Selvaraj, Dejan Georgiev, Bastiaan R. Bloem, Rianne A.J. Esselink, Ronald H.M.A. Bartels
Journal of Parkinson's Disease.2022; 12(7): 2059. CrossRef
Motor Thalamic Deep Brain Stimulation Alters Cortical Activity and Shows Therapeutic Utility for Treatment of Parkinson’s Disease Symptoms in a Rat Model
Heidi R. Tucker, Emily Mahoney, Kainat Akhtar, Tzu-Jen Kao, Gianna Mamone, Saisree Mikkilineni, Maya Ravi, Hanel Watkins, Danielle-Lee Terrelonge, Caryn Martin, Kristen Unger, Gabrielle Kim, Kyra Fiber, Megan Gupta, Jonathan Indajang, Eliyahu M. Kochman,
Neuroscience.2021; 460: 88. CrossRef
Current Knowledge on the Background, Pathophysiology and Treatment of Levodopa-Induced Dyskinesia—Literature Review
Michał Hutny, Jagoda Hofman, Aleksandra Klimkowicz-Mrowiec, Agnieszka Gorzkowska
Journal of Clinical Medicine.2021; 10(19): 4377. CrossRef
Estimating Risk for Future Intracranial, Fully Implanted, Modular Neuroprosthetic Systems: A Systematic Review of Hardware Complications in Clinical Deep Brain Stimulation and Experimental Human Intracortical Arrays
Autumn J. Bullard, Brianna C. Hutchison, Jiseon Lee, Cynthia A. Chestek, Parag G. Patil
Neuromodulation: Technology at the Neural Interface.2020; 23(4): 411. CrossRef
Long-term Effects of Bilateral Subthalamic Deep Brain Stimulation on Postural Instability and Gait Difficulty in Patients with Parkinson’s Disease
Hae-Won Shin, Mi Sun Kim, Sung Reul Kim, Sang Ryong Jeon, Sun Ju Chung
Journal of Movement Disorders.2020; 13(2): 127. CrossRef
Treatment strategies in advanced Parkinson's disease: Review of the literature
Yıldız Değirmenci
Cumhuriyet Medical Journal.2017; 39(3): 509. CrossRef

Case Reports

Progressive Supranuclear Gaze Palsy with Predominant Cerebellar Ataxia: A Case Series with Videos: Zheyu Xu, Tchoyoson C.C. Lim, Wing Lok Au, Louis C.S. Tan; J Mov Disord. 2017;10(2):87-91. Published online April 18, 2017; DOI: https://doi.org/10.14802/jmd.16059

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Abstract PDF Supplementary Material

Progressive supranuclear palsy (PSP) with predominant cerebellar ataxia (PSP-C) is a rare phenotype of PSP. The clinical and radiological features of this disorder remain poorly characterized. Through a retrospective case series, we aim to characterize the clinical and radiological features of PSP-C. Four patients with PSP-C were identified: patients who presented with prominent cerebellar dysfunction that disappeared with the progression of the disease. Supranuclear gaze palsy occurred at a mean of 2.0 ± 2.3 years after the onset of ataxia. Mild cerebellar volume loss and midbrain atrophy were detected on brain imaging, which are supportive of a diagnosis of PSP. Videos are presented illustrating the co-existence of cerebellar signs and supranuclear gaze palsy and the disappearance of cerebellar signs with disease progression. Better recognition and the development of validated diagnostic criteria would aid in the antemortem recognition of this rare condition.

Citations

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Central nystagmus in progressive supranuclear palsy: A neglected clinical feature?
Maja Klarendic, Manja Hribar, Nina Bozanic Urbancic, Nina Zupancic, Milica G. Kramberger, Maja Trost, Saba Battelino, Diego Kaski, Maja Kojovic
Parkinsonism & Related Disorders.2021; 84: 15. CrossRef
“Parkinson’s disease” on the way to progressive supranuclear palsy: a review on PSP-parkinsonism
Ján Necpál, Miroslav Borsek, Bibiána Jeleňová
Neurological Sciences.2021; 42(12): 4927. CrossRef
Progressive Supranuclear Palsy with Predominant Cerebellar Ataxia
Shoichiro Ando, Masato Kanazawa, Osamu Onodera
Journal of Movement Disorders.2020; 13(1): 20. CrossRef

Holmes’ Tremor with Shoulder Pain Treated by Deep Brain Stimulation of Unilateral Ventral Intermediate Thalamic Nucleus and Globus Pallidus Internus: Sabri Aydın, Huseyin Canaz, Ezgi Tuna Erdogan, Nazlı Durmaz, Barıs Topcular; J Mov Disord. 2017;10(2):92-95. Published online April 18, 2017; DOI: https://doi.org/10.14802/jmd.16051

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Abstract PDF

A 21-year-old male was admitted with severe right arm and hand tremors after a thalamic hemorrhage caused by a traffic accident. He was also suffering from agonizing pain in his right shoulder that manifested after the tremor. Neurologic examination revealed a disabling, severe, and irregular kinetic and postural tremor in the right arm during target-directed movements. There was also an irregular ipsilateral rest tremor and dystonic movements in the distal part of the right arm. The amplitude was moderate at rest and extremely high during kinetic and intentional movements. The patient underwent left globus pallidum internus and ventral intermediate thalamic nucleus deep brain stimulation. The patient improved by more than 80% as rated by the Fahn-Tolosa-Marin Tremor Rating Scale and Visual Analog Scale six months after surgery.

Citations

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Holmes tremor: an updated review
Efstratios-Stylianos Pyrgelis, Eleni Agapiou, Efthalia Angelopoulou
Neurological Sciences.2022; 43(12): 6731. CrossRef
Deep brain stimulation of the posterior subthalamic area as an alternative strategy for management of Holmes tremor: A case report and review of the literature
Omid Yousefi, Mojtaba Dayyani, Razieh Rezaei, Hooman Kamran, Ali Razmkon
Surgical Neurology International.2022; 13: 489. CrossRef
Vim stereotactic radiosurgical thalamotomy for drug-resistant idiopathic Holmes tremor: a case report
Manjul Tripathi, Sahil Mehta, Raghav Singla, Chirag K. Ahuja, Naresh Tandalya, Constantin Tuleasca, Aman Batish, Sandeep Mohindra, Abhinav Agrahari, Rupinder Kaur
Acta Neurochirurgica.2021; 163(7): 1867. CrossRef
Deep brain stimulation in uncommon tremor disorders: indications, targets, and programming
Carlo Alberto Artusi, Ashar Farooqi, Alberto Romagnolo, Luca Marsili, Roberta Balestrino, Leonard L. Sokol, Lily L. Wang, Maurizio Zibetti, Andrew P. Duker, George T. Mandybur, Leonardo Lopiano, Aristide Merola
Journal of Neurology.2018; 265(11): 2473. CrossRef

Paroxysmal Kinesigenic Dyskinesia as the Presenting and Only Manifestation of Multiple Sclerosis after Eighteen Months of Follow-Up: Marius Baguma, Michel Ossemann; J Mov Disord. 2017;10(2):96-98. Published online March 24, 2017; DOI: https://doi.org/10.14802/jmd.16055

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Abstract PDF

Other than tremor, movement disorders are uncommon in multiple sclerosis. Among these uncommon clinical manifestations, paroxysmal kinesigenic dyskinesia is the most frequently reported. It is characterized by episodic attacks of involuntary movements that are induced by repetitive or sudden movements, startling noise or hyperventilation. The diagnosis is essentially clinical and based on a good observation of the attacks. It is very easy to misdiagnose it. We describe the case of a young female patient who presented paroxysmal kinesigenic dyskinesia as the first and only clinical manifestation of multiple sclerosis, with no recurrence of attacks nor any other neurologic symptom after eighteen months of follow-up.

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Tongue dystonia as CIS and presenting symptom of multiple sclerosis
Farid Shamlou, Narges Ebrahimi, Ahmad Chitsaz
Neuroimmunology Reports.2024; 5: 100191. CrossRef
The Pathogenesis of Paroxysmal Kinesigenic Dyskinesia: Current Concepts
Zi‐yi Li, Wo‐tu Tian, Xiao‐jun Huang, Li Cao
Movement Disorders.2023; 38(4): 537. CrossRef
Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China
Li Cao, Xiaojun Huang, Ning Wang, Zhiying Wu, Cheng Zhang, Weihong Gu, Shuyan Cong, Jianhua Ma, Ling Wei, Yanchun Deng, Qi Fang, Qi Niu, Jin Wang, Zhaoxia Wang, You Yin, Jinyong Tian, Shufen Tian, Hongyan Bi, Hong Jiang, Xiaorong Liu, Yang Lü, Meizhen Sun
Translational Neurodegeneration.2021;[Epub] CrossRef
Les mouvements anormaux : mise au point
M. Béreau, C. Tranchant
La Revue de Médecine Interne.2018; 39(8): 641. CrossRef
Lesion correlates of secondary paroxysmal dyskinesia in multiple sclerosis
Kilian Fröhlich, Klemens Winder, Ralf A. Linker, Konstantin Huhn, Tobias Engelhorn, Arnd Dörfler, De-Hyung Lee, Stefan Schwab, Frank Seifert
Journal of Neurology.2018; 265(10): 2277. CrossRef

Progressive Encephalomyelitis with Rigidity and Myoclonus in an Intellectually Disabled Patient Mimicking Neuroleptic Malignant Syndrome: Zheyu Xu, Kalpana Prasad, Tianrong Yeo; J Mov Disord. 2017;10(2):99-101. Published online March 24, 2017; DOI: https://doi.org/10.14802/jmd.16058

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Abstract PDF

We present a case of 32-year-old male with profound mental retardation and autism spectrum disorder who had presented with seizures, rigidity and elevated creatine kinase and was initially diagnosed as neuroleptic malignant syndrome (NMS). The patient subsequently had a complicated clinical course, developing refractory status epilepticus, which lead to the eventual diagnosis of progressive encephalomyelitis with rigidity and myoclonus (PERM). We discuss the clinical similarities and differences between NMS and PERM, and highlight the need to consider alternative diagnoses when the clinical picture of NMS is atypical, particularly in this patient group where the history and clinical examination may be challenging.

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Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM)-like Symptoms Associated with Anti-ganglionic Acetylcholine Receptor Antibodies
Yuki Kitazaki, Masamichi Ikawa, Toru Kishitani, Tomoko Kamisawa, Shunya Nakane, Yasunari Nakamoto, Tadanori Hamano
Internal Medicine.2021; 60(14): 2307. CrossRef
A Systematic Review and Meta-Analysis of Immunoglobulin G Abnormalities and the Therapeutic Use of Intravenous Immunoglobulins (IVIG) in Autism Spectrum Disorder
Daniel A Rossignol, Richard E Frye
Journal of Personalized Medicine.2021; 11(6): 488. CrossRef
Progressive encephalomyelitis with rigidity: A Taiwanese case and review of literature
Anna Chang, Kuan-yu Lin, Kai-Ju Chuang, Patrick Waters, Sarosh Irani, Victor Mgbachi, Hsu-Ling Yeh, Li-Ming Lien, Hou-Chang Chiu, Wei-Hung Chen
Clinical Neurology and Neurosurgery.2021; 208: 106807. CrossRef
Neuroleptic Malignant Syndrome in Children with Autism Spectrum Disorder (ASD): A Case Report and Brief Review of Recent Literature
Stefano Berloffa, Claudia Dosi, Benedetta Tascini, Beatrice Fossati, Ilaria Lupetti, Gabriele Masi
Children.2021; 8(12): 1201. CrossRef
A case report of rigidity and recurrent lower limb myoclonus: progressive encephalomyelitis rigidity and myoclonus syndrome, a chameleon
Aurélie Degeneffe, Marie Dagonnier, Alain D’hondt, Jose Antonio Elosegi
BMC Neurology.2018;[Epub] CrossRef

Letters to the editor

Beyond the Classic Segawa Disease, GCH1-Associated Neurodegenerative Parkinsonism: Practical Considerations for Physicians: Jirat Chenbhanich, Jirada Sringean, Roongroj Bhidayasiri; J Mov Disord. 2017;10(2):102-104. Published online April 18, 2017; DOI: https://doi.org/10.14802/jmd.17009

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Comprehensive Analysis of Familial Parkinsonism Genes in Rapid‐Eye‐Movement Sleep Behavior Disorder
Kheireddin Mufti, Uladzislau Rudakou, Eric Yu, Lynne Krohn, Jennifer A. Ruskey, Farnaz Asayesh, Sandra B. Laurent, Dan Spiegelman, Isabelle Arnulf, Michele T.M. Hu, Jacques Y. Montplaisir, Jean‐François Gagnon, Alex Desautels, Yves Dauvilliers, Gian Luigi
Movement Disorders.2021; 36(1): 235. CrossRef
Differences in Drug Pharmacokinetics and Motor Fluctuation in DYT-GCH1
Gerard Saranza, Anthony E. Lang
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.2021; 48(5): 734. CrossRef
A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia
Subhajit Giri, Tufan Naiya, Shubhrajit Roy, Gautami Das, Gurusidheshwar M. Wali, Shyamal Kumar Das, Kunal Ray, Jharna Ray
Journal of Molecular Neuroscience.2019; 68(2): 214. CrossRef
Common and rare GCH1 variants are associated with Parkinson disease
Uladzislau Rudakou, Bouchra Ouled Amar Bencheikh, Jennifer A. Ruskey, Lynne Krohn, Sandra B. Laurent, Dan Spiegelman, Christopher Liong, Stanley Fahn, Cheryl Waters, Oury Monchi, Edward A. Fon, Yves Dauvilliers, Roy N. Alcalay, Nicolas Dupré, Ziv Gan-Or
Neurobiology of Aging.2018;[Epub] CrossRef

Isolated Neurological Manifestation in Silent Celiac Disease: Salma Tarabzouni, Thamer AlKhairallah; J Mov Disord. 2017;10(2):105-107. Published online March 24, 2017; DOI: https://doi.org/10.14802/jmd.16063

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Oromandibular dystonia – A systematic review
Udit Saraf, Mitesh Chandarana, KP Divya, Syam Krishnan
Annals of Indian Academy of Neurology.2022; 25(1): 26. CrossRef
Neurological syndromes of celiac disease
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