Journal of Movement Disorders

Case Report

Extensive Leukoencephalopathy in Spastic Paraplegia Type 4: Possible Role of Cerebral Autosomal Arteriopathy With Subcortical Infarcts and Leukoencephelopathy: Jin Ho Jung, Jung Hwa Seo, Sukyoon Lee, Young Jin Heo, Donghyun Kim, Eun Joo Chung, Seong-il Oh; J Mov Disord. 2022;15(1):71-74. Published online December 24, 2021; DOI: https://doi.org/10.14802/jmd.21091

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Despite recent advances in next-generation sequencing, the underlying etiology of adult-onset leukoencephalopathy has been difficult to elucidate. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a representative hereditary adult-onset leukoencephalopathy associated with vasculopathy. Leukoencephalopathy in spastic paraplegia type 4 (SPG4) is known to be rare, but it might be underestimated because most spastic paraplegia with leukoencephalopathy is rarely considered. We report a case of co-occurring SPG4 and CADASIL. A 61-year-old male presented with sudden visual impairment after a headache. He showed a spastic gait and had a family history with similar symptoms. An SPG4 gene mutation and a pathogenic variant in the NOTCH3 gene were found. This case shows that the diverse and complex clinical manifestations of patients with extensive leukoencephalopathy are related to more than one gene mutation. We also suggest the necessity for relevant genetic tests in the diagnosis of adult-onset leukoencephalopathy.

Citations

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Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4
Li Yao, Yuwen Cao, Chao Zhang, Xiaojun Huang, Wotu Tian, Li Cao
Clinical Genetics.2024;[Epub] CrossRef

Review Article

¹²³I-Metaiodobenzylguanidine Myocardial Scintigraphy in Lewy Body-Related Disorders: A Literature Review: Eun Joo Chung, Sang Jin Kim; J Mov Disord. 2015;8(2):55-66. Published online May 31, 2015; DOI: https://doi.org/10.14802/jmd.15015

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Abstract PDF

Lewy body-related disorders are characterized by the presence of Lewy bodies and Lewy neurites, which have abnormal aggregations of α-synuclein in the nigral and extranigral areas, including in the heart. 123I-metaiodobenzylguanidine (MIBG) scintigraphy is a well-known tool to evaluate cardiac sympathetic denervation in the Lewy body-related disorders. MIBG scintigraphy showed low uptake of MIBG in the Lewy body-related disorders, including Parkinson’s disease, dementia with Lewy bodies, pure autonomic failure and rapid eye movement sleep behavior disorder. This review summarizes previous results on the diagnostic applications of MIBG scintigraphy in Lewy body-related disorders.

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Case Reports

A Case of Intractable Psychogenic Essential Palatal Tremor: Eun Joo Chung, Hyun Jung, Sang Jin Kim; J Mov Disord. 2012;5(2):55-56.; DOI: https://doi.org/10.14802/jmd.12013

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Abstract PDF

Essential palatal tremor (EPT) is a rare disorder which shows rhythmic involuntary movement of the muscles of soft palate, especially tensor veli palatini muscle. EPT is classified by two subtypes, which is primary and secondary EPT. Secondary EPT includes psychogenic type. We describe a case of intractable psychogenic EPT.

Citations

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Botulinum toxin treatment for essential palatal tremors presenting with nasal clicks instead of pulsatile tinnitus: a case report
Yufeng Ye, Shiyu Liao, Baozhen Luo, Liyan Ni
Head & Face Medicine.2016;[Epub] CrossRef

Levodopa-Induced Facial Dystonia in a Case of Progressive Supranuclear Palsy: Eun Joo Chung, Sang Jin Kim; J Mov Disord. 2012;5(1):28-32.; DOI: https://doi.org/10.14802/jmd.12008

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Abstract PDF

Progressive supranuclear palsy (PSP) is frequently misdiagnosed as other Parkinsonism because of clinical heterogeneity of PSP. We present here a case of a 67-year-old male patient with frontotemporal dementia-like cognitive impairment including language difficulties and abnormal behaviors. He showed severe facial dystonia after the levodopa treatment. Herein, we describe an unusual case of a patient presenting with PSP which, we believe could contribute to our knowledge about atypical leveodopa-induced facial dystonia in PSP.

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Use of botulinum toxin in the management of dystonia in Parkinson’s disease
Charenya Anandan, Joseph Jankovic
Frontiers in Neuroscience.2024;[Epub] CrossRef
Lower Cranial Dystonia with Inflated Cheeks: A Case of Dystonic Respiratory Failure
Takashi Suzuki, Takao Makifuchi, Nobuyoshi Fukuhara
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Dystonia in atypical parkinsonian disorders
Luca Marsili, Matteo Bologna, Maja Kojovic, Alfredo Berardelli, Alberto J. Espay, Carlo Colosimo
Parkinsonism & Related Disorders.2019; 66: 25. CrossRef
A Review of Treatment Options for Progressive Supranuclear Palsy
Maria Stamelou, Günter Höglinger
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Dopa Responsive Slow Orthostatic Tremor in Parkinson’s Disease: Suk Yoon Lee, Eun Joo Chung, Yeo Jung Kim, Sang Jin Kim; J Mov Disord. 2011;4(2):82-84.; DOI: https://doi.org/10.14802/jmd.11019

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Abstract PDF

Slow orthostatic tremor (OT) occurred to longer and lower frequency regular rhythmic bursts in leg muscle upon standing. The slow OT was often able to clinically confused with orthostatic myoclonus. We described a Parkinson’s disease patient with levodopa responsive slow OT. She showed abnormal movements of more regular rhythms and stable frequency on both legs on standing. These symptoms were aggravated at off state and improved by increasing levodopa.

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Orthostatic myoclonus – A retrospective study of Asian patients
Yi-Cheng Tai, Hung-Chang Kuo, Yihui Wu, Shih-Pin Hsu
Journal of the Formosan Medical Association.2022; 121(7): 1310. CrossRef
Therapeutic Devices for Motor Symptoms in Parkinson’s Disease: Current Progress and a Systematic Review of Recent Randomized Controlled Trials
Joji Fujikawa, Ryoma Morigaki, Nobuaki Yamamoto, Teruo Oda, Hiroshi Nakanishi, Yuishin Izumi, Yasushi Takagi
Frontiers in Aging Neuroscience.2022;[Epub] CrossRef
Unilateral Pseudo-Orthostatic Tremor Provoked by a Remote Limb Movement in Parkinson’s Disease
Sang-Won Yoo, Youngje Heo, Joong-Seok Kim, Kwang-Soo Lee
Journal of Movement Disorders.2020; 13(1): 69. CrossRef
Levodopa-Responsive Primary Slow Orthostatic Tremor: A Premotor Sign of Parkinson’s Disease?
Fumihito Yoshii, Wakoh Takahashi, Koji Aono
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Original Articles

Four Cases with Peripheral Trauma Induced Involuntary Movements: Eun Joo Chung, Sang Jin Kim, Won Yong Lee, Jong Seok Bae, Eung Gyu Kim, Sung Hwa Pang; J Mov Disord. 2010;3(2):39-41.; DOI: https://doi.org/10.14802/jmd.10010

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Abstract PDF

Background and Purpose

Although peripheral trauma induced movement disorders have been rarely reported, diagnostic criteria for peripherally induced movement disorders (PIMD) have been established. Because preexisting subclinical movement disorders, or secondary gain for compensation and legal purposes are difficult to confirm, differential diagnosis for physicians still remains difficult.

Case Reports

We present four patients developed movement disorders after relatively various intervals after traffic accident. Three patients of them showed tremor and one patient presented propriospinal myoclonus. In this report, we investigate whether peripheral trauma can lead to movement disorders and describe the relationship between peripheral injury and movement disorders in four cases.

Conclusions

Injury was serious enough to develop involuntary abnormal movements with pain and the latency between injury and the onset of movements in all of cases was less than 1 year. Thus, our cases showed temporal and anatomical correlation between injury and the onset of movement disorder, strongly supporting the cause-and-effect relationship by previous diagnostic criteria for peripherally induced movement disorders.

Citations

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Early onset of propriospinal-like myoclonus in a child following a vertebral fracture
Carlotta Facini, Marina Barsacchi, Benedetta Piccolo, Emanuela Claudia Turco, Francesco Pisani
Neurology.2016; 87(9): 956. CrossRef
Propriospinal myoclonus: The spectrum of clinical and neurophysiological phenotypes
E. Antelmi, F. Provini
Sleep Medicine Reviews.2014;[Epub] CrossRef

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.

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