Journal of Movement Disorders

Volume 2(2); October 2009

Invited Review

Positron Emission Tomography in the Differential Diagnosis of Parkinsonism: Juha O Rinne; J Mov Disord. 2009;2(2):53-57.; DOI: https://doi.org/10.14802/jmd.09015

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Positron emission tomography (PET) studies on presynaptic dopaminergic function can reveal hypofunction in early Parkinson’s disease (PD) which may help in the early diagnosis especially in patients with mild symptoms. This hypofunction can be detected with fluorodopa (reflecting mainly aromatic amino acid decarboxylase activity of nigrostriatal terminals) or dopamine transporter ligands. These studies can also help to distinguish PD from essential tremor. However, investigations of presynaptic dopaminergic function are not useful in the differential diagnosis of parkinsonian syndromes. PET ligands, such as fluorodeoxyglucose (reflecting glucose metabolism) and dopamine receptor ligands, reflecting striatal neuronal function are better in this respect. Cardiac sympathetic function studies represent a new and interesting approach to improve differential diagnosis of parkinsonian syndromes but more studies are needed in larger patient populations with longer follow-up to evaluate the usefulness of these investigations. Multitracer approach combining ligands reflecting different aspects of dopaminergic neurotransmission and other physiological function will increase differential diagnostic accuracy.

Citations

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Dopamine Synthesis in the Nigrostriatal Dopaminergic System in Patients at Risk of Developing Parkinson’s Disease at the Prodromal Stage
Victor Blokhin, Ekaterina N. Pavlova, Elena A. Katunina, Marina R. Nodel, Galina V. Kataeva, Elina R. Moskalets, Tatiana S. Pronina, Michael V. Ugrumov
Journal of Clinical Medicine.2024; 13(3): 875. CrossRef
Feature extraction and classification of static spiral tests to assist the detection of Parkinson’s disease
Isabel Sarzo-Wabi, Daniel-Alejandro Galindo-Lazo, Roberto Rosas-Romero
Multimedia Tools and Applications.2023;[Epub] CrossRef
Hand Tremor Questionnaire: A Useful Screening Tool for Differentiating Patients with Hand Tremor between Parkinson's Disease and Essential Tremor
Kyum-Yil Kwon, Ho-Sung Ryu, Hye Mi Lee, Mi-Jung Kim, Hae-Won Shin, Hee Kyung Park, Sooyeoun You, Young-Hee Sung, Sun Ju Chung, Seong-Beom Koh
Journal of Clinical Neurology.2018; 14(3): 381. CrossRef
Parkinsonian Patient with Comorbid Normal Pressure Hydrocephalus
Jeong-Yoon Lee, Kayeong Im, Kyum-Yil Kwon
Clinical Neuroradiology.2018; 28(4): 617. CrossRef

Review Article

Secondary Dystonia-Clinical Clues and Syndromic Associations: Susanne A Schneider, Kailash P Bhatia; J Mov Disord. 2009;2(2):58-63.; DOI: https://doi.org/10.14802/jmd.09016

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Abstract PDF

Background:

Dystonia is a hyperkinetic movement disorder defined by involuntary sustained muscle spasms and unusual postures. Etiologically, dystonic syndromes can be broadly divided into primary and secondary forms, dystonia-plus syndromes and heredodegenerative forms. In particular, diagnosis of secondary dystonic syndromes can be challenging in view of the variety of causes.

Purpose:

The purpose of this article is to highlight some clinical clues and syndromic associations as well as investigational findings which may be helpful in the approach to a patient with suspected secondary dystonia.

Methods:

We outline characteristic clinical and neuroimaging findings which may be directive in the diagnostic process of dystonia patients and facilitate making the correct diagnosis, thus allowing initiating the best treatment.

Results:

Secondary causes of dystonia include, among others, strategic brain lesions of various origins, metabolic disease, neurodegenerative conditions, and previous exposure to drugs or toxins. Presence of clinical signs including prominent oromandibular involvement, eye movement disorders, retinitis pigmentosa, deafness, peripheral neuropathy, parkinsonism or progressive dementia should alert the clinician to consider a secondary cause. Strategic lesions within the basal ganglia, but also within the brainstem, cerebellum or cortical areas may underlie dystonia and should thus be excluded.

Conclusions:

When thorough clinical examination reveals features atypical of primary dystonia, syndromic associations may help the clinician to narrow down the list of differential diagnosis. Directive investigations like neuroimaging may confirm the clinical suspicion.

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Polioencephalopathy in Eurasier dogs
Faye Rawson, Matthias Christen, Jeremy Rose, Emilie Paran, Tosso Leeb, Angela Fadda
Journal of Veterinary Internal Medicine.2024; 38(1): 277. CrossRef
Oromandibular dystonia – A systematic review
Udit Saraf, Mitesh Chandarana, KP Divya, Syam Krishnan
Annals of Indian Academy of Neurology.2022; 25(1): 26. CrossRef
Oromandibular Dystonia: A Clinical Examination of 2,020 Cases
Laura M. Scorr, Stewart A. Factor, Sahyli Perez Parra, Rachel Kaye, Randal C. Paniello, Scott A. Norris, Joel S. Perlmutter, Tobias Bäumer, Tatiana Usnich, Brian D. Berman, Marie Mailly, Emmanuel Roze, Marie Vidailhet, Joseph Jankovic, Mark S. LeDoux, Ric
Frontiers in Neurology.2021;[Epub] CrossRef
Clinical characteristics and diagnostic clues to Neurometabolic causes of dystonia
Chun Seng Phua, Kishore Raj Kumar, Stanley Levy
Journal of the Neurological Sciences.2020; 419: 117167. CrossRef
Botulinum toxin A in the treatment of dystonia
Lenka Hvizdošová, Pavel Otruba, Martin Nevrlý, Petr Kaňovský
Neurologie pro praxi.2020; 21(1): 21. CrossRef
Sensory trick in upper limb dystonia
Sabino Dagostino, Tommaso Ercoli, Angelo F. Gigante, Roberta Pellicciari, Laura Fadda, Giovanni Defazio
Parkinsonism & Related Disorders.2019; 63: 221. CrossRef
Dystonia in Patients With Spinocerebellar Ataxia Type 2
Vladana Markovic, Natasa T. Dragasevic‐Miskovic, Iva Stankovic, Igor Petrovic, Marina Svetel, Vladimir S. Kostić
Movement Disorders Clinical Practice.2016; 3(3): 292. CrossRef
Drug-induced movement disorders
Dénes Zádori, Gábor Veres, Levente Szalárdy, Péter Klivényi, László Vécsei
Expert Opinion on Drug Safety.2015; 14(6): 877. CrossRef
Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype
Miryam Carecchio, Celeste Panteghini, Chiara Reale, Chiara Barzaghi, Valentina Monti, Luigi Romito, Francesco Sasanelli, Barbara Garavaglia
Parkinsonism & Related Disorders.2015;[Epub] CrossRef
A CASE SUPPORTING THE ROLE OF THE CEREBELLUM IN DYSTONIA
Anisha Doshi, Jonathon Rohrer, Tom Warner
Journal of Neurology, Neurosurgery & Psychiatry.2013; 84(11): e2.61. CrossRef

Original Articles

Usefulness of Diffusion-Weighted MRI for Differentiation between Parkinson’s Disease and Parkinson Variant of Multiple System Atrophy: Eun Joo Chung, Eung Gyu Kim, Jong Seok Bae, Choong Ki Eun, Kwang Sig Lee, Minkyung Oh, Sang Jin Kim; J Mov Disord. 2009;2(2):64-68.; DOI: https://doi.org/10.14802/jmd.09017

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Abstract PDF

Background and Purpose:

Several studies have reported that diffusion-weighted imaging (DWI) is able to help discriminate a Parkinson variant of multiple system atrophy (MSA-p) from Parkinson’s disease (PD) on the basis of the increased regional apparent diffusion coefficient (rADC). We analyzed the usefulness of DWI by using the rADC for differential diagnosis between MSA-p and PD and investigated the correlation between the rADC value and clinical features of MSA-p and PD.

Methods:

Twelve patients with PD and 10 with MSA-p were studied. The rADC value was determined in different brain regions, including the dorsal putamen (DP) and middle cerebellar peduncles (MCP).

Results:

The rADC values of the DP showed a greater increase in MSA-p patients than in PD patients (p=0.03). MSA-p patients also presented increased rADC values of the MCP compared with PD patients (p=0.0001). In particular, the sensitivity, specificity and positive predictive values of the MCP rADC were higher than those of the DP rADC. However, DP and MCP rADC values were not correlated with clinical features in either MSA or PD patients.

Conclusions:

DWI discriminated between PD and MSA-p based on rADC values in DP and MCP. The MCP rADC value, in particular, could better discriminate MSA-p from PD.

Citations

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Diffusion Magnetic Resonance Imaging Microstructural Abnormalities in Multiple System Atrophy: A Comprehensive Review
Jacopo Pasquini, Michael J. Firbank, Roberto Ceravolo, Vincenzo Silani, Nicola Pavese
Movement Disorders.2022; 37(10): 1963. CrossRef
Quantitative MRI markers in Parkinson's disease and parkinsonian syndromes
Germain Arribarat, Patrice Péran
Current Opinion in Neurology.2020; 33(2): 222. CrossRef
Unified platform for multimodal voxel-based analysis to evaluate tumour perfusion and diffusion characteristics before and after radiation treatment evaluated in metastatic brain cancer
Catherine Coolens, Brandon Driscoll, Warren Foltz, Igor Svistoun, Noha Sinno, Caroline Chung
The British Journal of Radiology.2019; 92(1096): 20170461. CrossRef
“One line”: A method for differential diagnosis of parkinsonian syndromes
Wataru Sako, Takashi Abe, Shotaro Haji, Nagahisa Murakami, Yusuke Osaki, Yuishin Izumi, Masafumi Harada, Ryuji Kaji
Acta Neurologica Scandinavica.2019; 140(3): 229. CrossRef
Early stages of Parkinson’s disease: aspects of the diagnosis and therapy
A. A. Pilipovich
Medical Council.2019; (18): 61. CrossRef
Parkinson’s Disease: Biomarkers, Treatment, and Risk Factors
Fatemeh N. Emamzadeh, Andrei Surguchov
Frontiers in Neuroscience.2018;[Epub] CrossRef
Widespread diffusion changes differentiate Parkinson's disease and progressive supranuclear palsy
Aron S. Talai, Jan Sedlacik, Kai Boelmans, Nils D. Forkert
NeuroImage: Clinical.2018; 20: 1037. CrossRef
Magnetic resonance imaging for the diagnosis of Parkinson’s disease
Beatrice Heim, Florian Krismer, Roberto De Marzi, Klaus Seppi
Journal of Neural Transmission.2017; 124(8): 915. CrossRef
Diffusion-weighted MRI distinguishes Parkinson disease from the parkinsonian variant of multiple system atrophy: A systematic review and meta-analysis
Sweta Bajaj, Florian Krismer, Jose-Alberto Palma, Gregor K. Wenning, Horacio Kaufmann, Werner Poewe, Klaus Seppi, Jan Kassubek
PLOS ONE.2017; 12(12): e0189897. CrossRef
Free-water imaging in Parkinson’s disease and atypical parkinsonism
Peggy J. Planetta, Edward Ofori, Ofer Pasternak, Roxana G. Burciu, Priyank Shukla, Jesse C. DeSimone, Michael S. Okun, Nikolaus R. McFarland, David E. Vaillancourt
Brain.2016; 139(2): 495. CrossRef
Imaging synucleinopathies
David J. Brooks, Nicola Tambasco
Movement Disorders.2016; 31(6): 814. CrossRef
The difference of apparent diffusion coefficient in the middle cerebellar peduncle among parkinsonian syndromes: Evidence from a meta-analysis
Wataru Sako, Nagahisa Murakami, Yuishin Izumi, Ryuji Kaji
Journal of the Neurological Sciences.2016; 363: 90. CrossRef
Imaging-based differential diagnosis between multiple system atrophy and Parkinson's disease
Wataru Sako, Takashi Abe, Nagahisa Murakami, Yoshimichi Miyazaki, Yuishin Izumi, Masafumi Harada, Ryuji Kaji
Journal of the Neurological Sciences.2016; 368: 104. CrossRef
Brain MR Contribution to the Differential Diagnosis of Parkinsonian Syndromes: An Update
Giovanni Rizzo, Stefano Zanigni, Roberto De Blasi, Daniela Grasso, Davide Martino, Rodolfo Savica, Giancarlo Logroscino
Parkinson's Disease.2016; 2016: 1. CrossRef

Anticholinergic Agents Can Induce Oromandibular Dyskinesia: Hee-Young Shin, Won Tae Yoon, Won Yong Lee; J Mov Disord. 2009;2(2):69-71.; DOI: https://doi.org/10.14802/jmd.09018

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Abstract PDF

Background and Purpose:

Oromandibular dyskinesia (OMD) can occur spontaneously or they can be induced by the conventional dopamine receptor antagonists. Anticholinergic medications have rarely been reported to cause OMD in parkinsonian or non-parkinsonian patients.

Methods:

We analyzed the clinical features of two parkinsonian and one non-parkinsonian patients who experienced OMD after anticholinergic medication.

Results:

Each patient of our cases developed oromandibular symptoms in the temporal regions that were related to the addition of anticholinergic agents, and the symptoms were relieved following the discontinuation of the causative anticholinergic drugs. In one of our case, levodopa alone did not cause dyskinesia but augmented dyskinesia associated with anticholinergics.

Conclusions:

Here we report two parkinsonian and one non-parkinsonian patients with OMD induced by the use of anticholinergic agents. In our cases, we could not find any other precipitating or actual secondary causes for the OMD symptoms in our patients. Furthermore, the fact that the OMD in our cases were ameliorated with cessation of anticholinergics suggests that it may be anticholinergic-induced.

Citations

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Factors associated with anticholinergic-induced oral-buccal-lingual dyskinesia in Parkinson’s disease
Joonyoung Ha, Suk Yun Kang, Kyoungwon Baik, Young H. Sohn, Phil Hyu Lee, Min Seok Baek, Jin Yong Hong
Journal of Movement Disorders.2024; 17(1): 109. CrossRef
Impact of anticholinergic drugs withdrawal on motor function in patients with Parkinson’s disease
Yasaman Saeedi, Maryam Ghadimi, Mohammad Rohani, Maziar Emamikhah, Gholamali Shahidi, Mehdi Moghaddasi, Seyed Amir Hassan Habibi
Clinical Neurology and Neurosurgery.2021; 202: 106480. CrossRef
Treatment of Tardive Dyskinesia: A General Overview with Focus on the Vesicular Monoamine Transporter 2 Inhibitors
Nicki Niemann, Joseph Jankovic
Drugs.2018; 78(5): 525. CrossRef

Autonomic Dysfunctions in Parkinsonian Disorders: Hyo-Jin Bae, Sang-Myung Cheon, Jae Woo Kim; J Mov Disord. 2009;2(2):72-77.; DOI: https://doi.org/10.14802/jmd.09019

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Abstract PDF

Background and Purpose:

Symptoms of autonomic dysfunctions are common in the patients with parkinsonian disorders. Because clinical features of autonomic dysfunctions are diverse, the comprehensive evaluation is essential for the appropriate management. For the appreciation of autonomic dysfunctions and the identification of differences, patients with degenerative parkinsonisms are evaluated using structured questionnaire for autonomic dysfunction (ADQ).

Methods:

Total 259 patients, including 192 patients with [idiopathic Parkinson’s disease (IPD, age 64.6 ± 9.6 years)], 37 with [multiple system atrophy (MSA, 62.8 ± 9.1)], 9 with [dementia with Lewy body (DLB, 73.9 ± 4.3)], and 21 with [progressive supranuclear palsy (PSP, 69.4 ± 9.6)]. The ADQ was structured for evaluation of the presence of symptoms and its severity due to autonomic dysfunction, covering gastrointestinal, urinary, sexual, cardiovascular and thermoregulatory domains. Patients were also evaluated for the orthostatic hypotension.

Results:

Although dementia with Lewy body (DLB) patients were oldest and duration of disease was longest in IPD, total ADQ scores of MSA and PSP (23.9 ± 12.6 and 21.1 ± 7.8) were significantly increased than that of IPD (15.1 ± 10.6). Urinary and cardiovascular symptom scores of MSA and gastrointestinal symptom score of PSP were significantly worse than those of IPD. The ratio of patient with orthostatic hypotension in IPD was 31.2% and not differed between groups (35.1% in MSA, 33.3% in DLB and 33.3% in PSP). But the systolic blood pressure dropped drastically after standing in patients with MSA and DLB than in patients with IPD and PSP.

Conclusions:

Patients with degenerative parkinsonism showed widespread symptoms of autonomic dysfunctions. The severity of those symptoms in patients with PSP were comparing to that of MSA patients and worse than that of IPD.

Citations

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Autonomic dysfunction in progressive supranuclear palsy
Francesca Baschieri, Maria Vitiello, Pietro Cortelli, Giovanna Calandra-Buonaura, Francesca Morgante
Journal of Neurology.2023; 270(1): 109. CrossRef
Orthostatic hypotension in dementia with Lewy bodies: a meta-analysis of prospective studies
Ahmet Turan Isik, Fatma Sena Dost, Idil Yavuz, Mehmet Selman Ontan, Esra Ates Bulut, Derya Kaya
Clinical Autonomic Research.2023; 33(2): 133. CrossRef
An Overview of Gastrointestinal Dysfunction in Parkinsonian Syndromes
Lauren Talman, Delaram Safarpour
Seminars in Neurology.2023; 43(04): 583. CrossRef
The Non-Motor Symptom Profile of Progressive Supranuclear Palsy
Sudhakar Pushpa Chaithra, Shweta Prasad, Vikram Venkappayya Holla, Albert Stezin, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
Journal of Movement Disorders.2020; 13(2): 118. CrossRef
Subtypes of Parkinson’s Disease: What Do They Tell Us About Disease Progression?
Seyed-Mohammad Fereshtehnejad, Ronald B. Postuma
Current Neurology and Neuroscience Reports.2017;[Epub] CrossRef
Characteristics of Nonmotor Symptoms in Progressive Supranuclear Palsy
Ruwei Ou, Wei Song, Qianqian Wei, Ke Chen, Bei Cao, Yanbing Hou, Bi Zhao, Huifang Shang
Parkinson's Disease.2016; 2016: 1. CrossRef

Case Reports

Paroxysmal Chorea as a Relapse of Myelopathy in a Patient with Neuromyelitis Optica: Sang-Soo Lee, Ho-Sung Han, Dong-Ick Shin; J Mov Disord. 2009;2(2):78-79.; DOI: https://doi.org/10.14802/jmd.09020

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Abstract PDF: Movement disorders secondary to intrinsic spinal cord disease are rare. Paroxysmal chorea has not yet been reported in the neuromyelitis optica (NMO). We report a 43-year-old woman with relapsing-remitting cervical myelopathy who developed paroxysmal chorea during clinical exacerbation of NMO. MRI scan of the cervical spine revealed a long segmental enhancing lesion, but brain MRI did not show any responsible abnormalities. Acute exacerbation of recurrent myelopathy in NMO may be associated with transient movement disorder.

A Case of Vascular Hemichorea Responding to Topiramate: Jee-Ae Kim, San Jung, Min-Ju Kim, Seok-Beom Kwon, Sung-Hee Hwang, Ki-Han Kwon; J Mov Disord. 2009;2(2):80-81.; DOI: https://doi.org/10.14802/jmd.09021

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Abstract PDF

Although vascular chorea often comes into remission spontaneously, a few patients may remain with persistent movement disorder. Most movements respond well to neuroleptics as well as other antidopaminergic drugs, but some patients show poor responses to those neuroleptics. Topiramate is a widely used of broad-spectrum anticonvulsant possessing a complex mechanism of action. It has been proven to enhance gamma-aminobutyrate acid activity and to be effective in the control of other movement disorders. We describe a 63-year-old woman with intractable vascular hemichorea which was controlled with anti-convulsant, topiramate.

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A case of severe movement disorder with GNAO1 mutation responsive to topiramate
Saori Sakamoto, Yukifumi Monden, Ryoko Fukai, Noriko Miyake, Hiroshi Saito, Akihiko Miyauchi, Ayumi Matsumoto, Masako Nagashima, Hitoshi Osaka, Naomichi Matsumoto, Takanori Yamagata
Brain and Development.2017; 39(5): 439. CrossRef
Writing Tremor Secondary to Ischemic Stroke
Juan P. Paviolo, Gabriela B. Raina, Eugenia Conti, Federico Micheli
Clinical Neuropharmacology.2015; 38(2): 57. CrossRef
Acute Hemichorea as an Unusual Presentation of Internal Carotid Artery Stenosis
Dong Wook Kim, Youngchai Ko, Sang Hyun Jang, Soo Jin Yoon, Gun-Sei Oh, Soo Joo Lee, Dong Joo Yun
Journal of Movement Disorders.2013; 6(1): 17. CrossRef

Hemidystonia as an Initial Manifestation of Leptomeningeal Metastasis: Hyun-Jung Jung, Seong-Min Choi, Byeong-Chae Kim; J Mov Disord. 2009;2(2):82-85.; DOI: https://doi.org/10.14802/jmd.09022

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Abstract PDF

A 76-year-old woman gradually developed action dystonia of the left hand and foot. Leptomeningeal metastasis of the right fronto-parietal area associated with gastric adenocarcinoma was found on the brain magnetic resonance imaging (MRI) and positron emission tomography (PET) studies. We discuss the mechanisms involved in the development of secondary hemidystonia and review dystonia associated with cortical lesions.

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Cerebral Parenchymal Photopenia on FDG-PET/CT Reflecting Vasogenic Edema Due to Leptomeningeal Metastasis in Breast Cancer
Mitsutomi Ishiyama, Manuela Christina Matesan
Clinical Nuclear Medicine.2017; 42(4): 285. CrossRef

Disabling Head Tremor in a Patient with DYT1 Mutation: Jae-Hyeok Lee, Dae-Seong Kim, Jae-Wook Cho, Kyung-Pil Park; J Mov Disord. 2009;2(2):86-87.; DOI: https://doi.org/10.14802/jmd.09023

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Abstract PDF

Dystonic head tremor is known to be a feature in some patients with DYT1 mutation. However, isolated tremor of the head without relevant cervical dystonia has rarely been described. We report here a patient with the three-bp GAG deletion in the DYT1 gene (904_906delGAG) who had severe head tremor in the frame of a generalized limb dystonia.

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Head tremor at disease onset: an ataxic phenotype of cervical dystonia
Aristide Merola, Alok K. Dwivedi, Aasef G. Shaikh, Tamour Khan Tareen, Gustavo A. Da Prat, Marcelo A. Kauffman, Jennie Hampf, Abhimanyu Mahajan, Luca Marsili, Joseph Jankovic, Cynthia L. Comella, Brian D. Berman, Joel S. Perlmutter, Hyder A. Jinnah, Alber
Journal of Neurology.2019; 266(8): 1844. CrossRef

A Cerebellar Tremor in a Patient with Human Immunodeficiency Virus-1 Associated with Progressive Multifocal Leukoencephalopathy: Hee-Jin Kim, Jae-Jung Lee, Phil Hyu Lee; J Mov Disord. 2009;2(2):88-90.; DOI: https://doi.org/10.14802/jmd.09024

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Abstract PDF

Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the central nervous system (CNS) caused by JC virus infection in oligodendrocytes, especially in patients with acquired immunodeficiency syndrome (AIDS). Movement disorders associated with PML are very rare. Here, we report a case of PML in an AIDS patient who presented with a cerebellar tremor, caused by lesions in the cerebellar outflow tract. A cerebellar tremor can be a rare clinical manifestation in patients with PML.

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Holmes tremor in progressive multifocal leukoencephalopathy: A video case report
Takako Matsushima, Ryotaro Ikeguchi, Mutsumi Iijima, Ayato Shimomura, Shuntaro Takahashi, Kazuo Nakamichi, Yuko Shimizu, Kazuo Kitagawa
Clinical and Experimental Neuroimmunology.2023;[Epub] CrossRef
Holmes tremor caused by a natalizumab-related progressive multifocal leukoencephalopathy: a case report and brief review of the literature
Luca Magistrelli, Domizia Vecchio, Paola Naldi, Cristoforo Comi, Roberto Cantello
Neurological Sciences.2019; 40(9): 1943. CrossRef

A Case of Adrenoleukodystrophy Presenting as Progressive Cerebellar Dysfunction: Seunguk Jung, Jong Won Chung, Ji Young Yun, Han-Joon Kim, Beom Seok Jeon; J Mov Disord. 2009;2(2):91-94.; DOI: https://doi.org/10.14802/jmd.09025

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Abstract PDF

X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy. However, cerebellar manifestations are rare. We report a case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction resembling olivopontocerebellar degeneration, with a review of the literature

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Gut dysmotility in children with neurological impairment: the nutritional management
Antonio Corsello, Lorenzo Scatigno, Annalisa Govoni, Gianvincenzo Zuccotti, Frédéric Gottrand, Claudio Romano, Elvira Verduci
Frontiers in Neurology.2023;[Epub] CrossRef
Leukoencephalopathy With Predominant Infratentorial Involvement Caused by a Novel ABCD1 Mutation
Chiara Benzoni, Laura Farina, Viviana Pensato, Giorgio Marotta, Altin Kuqo, Elena Mauro, Davide Pareyson, Ettore Salsano
The Neurologist.2019; 24(6): 194. CrossRef
Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia
Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao, Bing-Wen Soong, Zhi-Ying Wu
PLOS ONE.2017; 12(5): e0177296. CrossRef
Adult‐onset cerebello‐brainstem dominant form of X‐linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review
Kotaro Ogaki, Shunsuke Koga, Naoya Aoki, Wenlang Lin, Kinuko Suzuki, Owen A. Ross, Dennis W. Dickson
Neuropathology.2016; 36(1): 64. CrossRef

A Case of Painful Hemimasticatory Spasm with Masseter Muscle Hypertrophy Responsive to Botulinum Toxin: Jin-Hyuck Kim, Seok-Won Han, Yun Joong Kim, Jooyong Kim, Mi-Suh Oh, Hyeo-Il Ma, Byung-Chul Lee; J Mov Disord. 2009;2(2):95-97.; DOI: https://doi.org/10.14802/jmd.09026

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Abstract PDF

Hemimasticatory spasm (HMS) is a rare disorder of the trigeminal nerve characterized by paroxysmal involuntary contractions of the unilateral jaw-closing muscles. HMS has been frequently described in association with facial hemiatrophy or localized scleroderma. A 42-year-old female presented with involuntary paroxysmal spasms of the left face, of 6 months duration. Her lower face on the left was markedly hypertrophied without skin lesions. An electrophysiological study indicated that the masseter reflexes and masseteric silent period were attenuated on the affected side. Surface electromyography demonstrated irregular bursts of motor unit potentials at high frequencies up to 200 Hz. Magnetic resonance imaging of the head showed marked hypertrophy of the left masseter muscle. Biopsy of the hypertrophied masseter muscle was normal. Repeated local injections of botulinum toxin noticeably reduced the size of the hypertrophied muscle as well as improved the patient’s symptoms.

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Hemimasticatory spasm: a series of 17 cases and a comprehensive review of the literature
Kazuya Yoshida
Frontiers in Neurology.2024;[Epub] CrossRef
Hemimasticatory spasm: possibilities of treatment with injections of botulinum neuroprotein type A (case report)
L. U. Valieva, A. S. Pankratov, O. R. Orlova
Neurology, Neuropsychiatry, Psychosomatics.2022; 14(3): 62. CrossRef
Bilateral Hemimasticatory spasm in a patient with hypereosinophilic syndrome
Kyung Ah Woo, Han-Joon Kim, Hyeyoung Park, Beomseok Jeon
Parkinsonism & Related Disorders.2021; 93: 55. CrossRef
Hemimasticatory spasm. Own experience of using botulinum neuroprotein type A
A. N. Korenko, A. V. Amelin, A. A. Timofeeva
The Scientific Notes of the Pavlov University.2021; 28(3): 47. CrossRef
Parry-Romberg Syndrome With Hemimasticatory Spasm: A Rare Combination
Guang-can Chen, Min-jie Chen, Wen-bin Wei, Yun-bo Hao
Journal of Craniofacial Surgery.2020; 31(2): e205. CrossRef
Hemi Masticatory Spasm: Series of 7 Cases and Review of Literature
Divya M. Radhakrishnan, Vinay Goyal, Garima Shukla, Mamta Bhushan Singh, M. Ramam
Movement Disorders Clinical Practice.2019; 6(4): 316. CrossRef

Chorea in the Both Lower Limbs Associated with Nonketotic Hyperglycemia: Young-Hee Sung, Ki-Hyung Park, Yeung-Bae Lee, Hyeon-Mi Park, Dong-Jin Shin; J Mov Disord. 2009;2(2):98-100.; DOI: https://doi.org/10.14802/jmd.09027

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Abstract PDF

Hemichorea-hemiballism (HC-HB) is a complication of non-ketotic hyperglycemia (NKH); in NKH patients, the frequency of occurrence of HC-HB is greater than that of bilateral chorea. We report the case of a hyperglycemic patient who showed chorea in both the lower limbs. Magnetic resonance imaging (MRI) of the brain revealed high signal intensity on T1-weighted images of the bilateral dorsolateral putamen. The abnormal involuntary movements disappeared after oral administration of haloperidol. Our case report that chorea associated with NKH is correlated with the topography of the basal ganglia.

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Mechanistic insights into the role of serum-glucocorticoid kinase 1 in diabetic nephropathy: A systematic review
Saba Noor, Taj Mohammad, Gulam M. Ashraf, Joviana Farhat, Anwar L. Bilgrami, Mathew Suji Eapen, Sukhwinder Singh Sohal, Dharmendra Kumar Yadav, Md Imtaiyaz Hassan
International Journal of Biological Macromolecules.2021; 193: 562. CrossRef
“Diabetic striatopathy”: clinical presentations, controversy, pathogenesis, treatments, and outcomes
Choon-Bing Chua, Cheuk-Kwan Sun, Chih-Wei Hsu, Yi-Cheng Tai, Chih-Yu Liang, I-Ting Tsai
Scientific Reports.2020;[Epub] CrossRef
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Basal Ganglia.2013; 3(2): 85. CrossRef

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