Journal of Movement Disorders

Volume 10(3); September 2017

Original Articles

Patients and Their Caregivers’ Burdens for Parkinson’s Disease in Korea: Jong Sam Baik, Joong-Seok Kim, Seong-Beom Koh, Jin Whan Cho, Phil Hyu Lee, Hyeo-Il Ma, Yun Joong Kim, Tae-Beom Ahn, Sang Jin Kim, Yong Duk Kim, Seong-min Choi, Ho-Won Lee, Hee Tae Kim; J Mov Disord. 2017;10(3):109-115. Published online September 22, 2017; DOI: https://doi.org/10.14802/jmd.17053

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Objective
Many patients with Parkinson’s disease (PD) suffer from motor and non-motor symptoms. According to these variable symptoms of PD, patients or caregivers have a poorer quality of life than patients with other neurodegenerative diseases. Since the difficulties are varied for all patients, prioritizing their difficulties differs among all cases. The goal of this study was to investigate the burdens of PD among the caregivers as well as patients and to identify areas requiring aid from the government.
Methods
We surveyed the awareness and perceptions of PD in patients and caregivers of PD by a face-to-face questionnaire. The questionnaire was divided into three sections: symptoms of PD (part A), desire for policies (part B), and difficulties faced by their caregivers (part C). Part A comprised 8 questions, Part B had 2 questions, and Part C had 3 questions.
Results
In total, 853 subjects (702 patients and 151 caregivers) were enrolled in this study. The major difficulties experienced by PD patients were physical (67%), psychiatric (60%) and socio-economic (52%). Assessing the physical difficulties, more than half the patients experienced severe difficulties (29% very severe, 39% severe). Psychiatric difficulties were assessed as severe (35%) and very severe (21%) among the patients. Severe difficulties were also experienced socio-economically, at 52% in patients and 49% in caregivers, especially among patients in their fifties (58%) and those with their spouse (65%) as caregivers. The topmost need was the introduction of new technology for treatment of PD (62%), followed by relief of costs for treatment (38%) and a family support system (31%). The majority (91%) of the patients were diagnosed with PD within two years after onset of symptoms.
Conclusion
We know that the difficulties of PD and the needs for government assistance are different between patients and caregivers. These results emphasize that perceiving the difficulties and needs of patients and caregivers early can help to prevent and ameliorate the burden of disease.

Citations

Citations to this article as recorded by

Challenges in Parkinson’s Disease Care—In Light of the COVID-19 Pandemic
Kyung Ah Woo, Han-Joon Kim, Beomseok Jeon
Journal of Movement Disorders.2023; 16(1): 52. CrossRef
Efficacy and safety of a combination of emotional freedom technique with acupuncture versus acupuncture alone to treat psychiatric symptoms in Parkinson’s disease: A protocol for a randomized, assessor-blind, parallel-group clinical trial
Dong-Hoon Kang, Ju-Yeon Kim, Yang-Chun Park, Ho-Ryong Yoo, In Chul Jung
Medicine.2023; 102(21): e33714. CrossRef
Exploring Unmet Information Needs of People with Parkinson’s Disease and Their Families: Focusing on Information Sharing in an Online Patient Community
Hyeon Sik Chu, Hye Young Jang
International Journal of Environmental Research and Public Health.2022; 19(5): 2521. CrossRef
Participants' perspective on a COVID-19 online vocal group stimulation for people with Parkinson's disease
Marie-Christine Hallé, Charline Delorme, Édith Coulombe, Ouswa Rekik, Ingrid Verduyckt
Frontiers in Rehabilitation Sciences.2022;[Epub] CrossRef
Group singing improves quality of life for people with Parkinson’s: an international study
J. Yoon Irons, Grenville Hancox, Trish Vella-Burrows, Eun-Young Han, Hyun-Ju Chong, David Sheffield, Donald E. Stewart
Aging & Mental Health.2021; 25(4): 650. CrossRef
Exploring the perceptions and stigmatizing experiences of Israeli family caregivers of people with Parkinson's disease
Hanan AboJabel, Einat Argavan, Sharon Hassin-Baer, Rivka Inzelberg, Perla Werner
Journal of Aging Studies.2021; 56: 100910. CrossRef
Perceived online social support for Parkinson’s disease patients: The role of support type, uncertainty, contentment, and psychological quality of life
Surin Chung, Eunjin (Anna) Kim, J. Brian Houston
Communication Quarterly.2021; 69(3): 259. CrossRef
Delivering patient-centered care in Parkinson's disease: Challenges and consensus from an international panel
Roongroj Bhidayasiri, Pattamon Panyakaew, Claudia Trenkwalder, Beomseok Jeon, Nobutaka Hattori, Priya Jagota, Yih-Ru Wu, Elena Moro, Shen-Yang Lim, Huifang Shang, Raymond Rosales, Jee-Young Lee, Win Min Thit, Eng-King Tan, Thien Thien Lim, Ngoc Tai Tran,
Parkinsonism & Related Disorders.2020; 72: 82. CrossRef
Understanding patients’ and caregivers’ perspectives and educational needs in Parkinson’s disease: a multi-ethnic Asian study
Xing Yan Choo, Shen-Yang Lim, Karuthan Chinna, Yan Jing Tan, Voon Wei Yong, Jia Lun Lim, Kar Foo Lau, Jing Yi Chung, Jun Min Em, Hui Ting Tan, Jia Hwa Lim, Seng Beng Tan, Chong Tin Tan, Ai Huey Tan
Neurological Sciences.2020; 41(10): 2831. CrossRef
Nörolojik Hastalık ve Evlilik
Mehmet ÖNGER, Tuba AYDIN
Sakarya Medical Journal.2020;[Epub] CrossRef
The burden of care and the understanding of disease in Parkinson’s disease
Geum-Bong Lee, Hyunhee Woo, Su-Yoon Lee, Sang-Myung Cheon, Jae Woo Kim, Oscar Arias-Carrion
PLOS ONE.2019; 14(5): e0217581. CrossRef

Genetic Screening for Spinocerebellar Ataxia Genes in a Japanese Single-Hospital Cohort: Ryuji Sakakibara, Fuyuki Tateno, Masahiko Kishi, Yohei Tsuyusaki, Yosuke Aiba, Hitoshi Terada, Tsutomu Inaoka, Setsu Sawai, Satoshi Kuwabara, Fumio Nomura; J Mov Disord. 2017;10(3):116-122. Published online August 8, 2017; DOI: https://doi.org/10.14802/jmd.17011

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Abstract PDF

Objective
Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy. Recently, an autosomal-dominant spinocerebellar ataxia (SCA) mutation was identified in a cohort of patients with non-MSA-C sporadic cerebellar ataxia. The aim of this study is to genetically screen genes involved in SCA in a Japanese single-hospital cohort.
Methods
Over an 8-year period, 140 patients with cerebellar ataxia were observed. There were 109 patients with sporadic cerebellar ataxia (no family history for at least four generations, 73 patients with MSA-C, and 36 patients with non-MSA-C sporadic cerebellar ataxia) and 31 patients with familial cerebellar ataxia. We performed gene analysis comprising SCA1, 2, 3, 6, 7, 8, 12, 17, 31, and dentatorubro-pallidoluysian atrophy (DRPLA) in 28 of 31 non-MSA-C sporadic patients who requested the test. Familial patients served as a control.
Results
Gene abnormalities were found in 57% of non-MSA-C sporadic cerebellar ataxia cases. Among patients with sporadic cerebellar ataxia, abnormalities in SCA6 were the most common (36%), followed by abnormalities in SCA1 (7.1%), SCA2 (3.6%), SCA3 (3.6%), SCA8 (3.6%), and DRPLA (3.6%). In contrast, gene abnormalities were found in 75% of familial cerebellar ataxia cases, with abnormalities in SCA6 being the most common (29%). For sporadic versus familial cases for those with SCA6 abnormalities, the age of onset was older (69 years vs. 59 years, respectively), and CAG repeat length was shorter (23 vs. 25, respectively) in the former than in the latter (not statistically significant).
Conclusion
Autosomal-dominant mutations in SCA genes, particularly in SCA6, are not rare in sporadic cerebellar ataxia. The reason for the frequency of mutations in SCA6 remains unclear; however, the reason may reflect a higher age at onset and variable penetrance of SCA6 mutations.

Citations

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Genetic profiles of multiple system atrophy revealed by exome sequencing, long‐read sequencing and spinocerebellar ataxia repeat expansion analysis
Xu‐Ying Li, Hong Lai, Xian Li, Fanxi Xu, Yang Song, Zhanjun Wang, Qibin Li, Ruichai Lin, Zhiheng Xu, Chaodong Wang
European Journal of Neurology.2024;[Epub] CrossRef
MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias
Mario Mascalchi
Tomography.2022; 8(1): 423. CrossRef
An atypical course of a 71-year old man with right arm weakness and ataxia: Expert commentary
Norlinah Mohamed Ibrahim
Parkinsonism & Related Disorders.2022; 105: 157. CrossRef
A novel clinicopathologic entity causing rapidly progressive cerebellar ataxia?
Shunsuke Koga, Shan Ali, Matthew C. Baker, Klaas J. Wierenga, Michelle Dompenciel, Dennis W. Dickson, Zbigniew K. Wszolek
Parkinsonism & Related Disorders.2022; 105: 149. CrossRef
The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins
Jun Sawada, Takayuki Katayama, Takashi Tokashiki, Shiori Kikuchi, Kohei Kano, Kae Takahashi, Tsukasa Saito, Yoshiki Adachi, Yuji Okamoto, Akiko Yoshimura, Hiroshi Takashima, Naoyuki Hasebe
Internal Medicine.2020; 59(2): 277. CrossRef
The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review
Shirley Yin-Yu Pang, Kay-Cheong Teo, Jacob Shujui Hsu, Richard Shek-Kwan Chang, Miaoxin Li, Pak-Chung Sham, Shu-Leong Ho
Translational Neurodegeneration.2017;[Epub] CrossRef

Sleepiness and Depression in Parkinson’s Disease Patients Treated with Ropinirole and Levodopa: Suk Yun Kang, Ho-Sung Ryu, Mun-Kyung Sunwoo, Sang-Jin Kim, Jong-Sam Baik, Mee-Young Park, Hyung-Eun Park, Joong-Seok Kim, Kyum-Yil Kwon, Seong-Beom Koh, Young-Eun Kim, Mi-Kyong Lee, Jong-Min Kim, Sun Ju Chung, Young-Ho Sohn; J Mov Disord. 2017;10(3):123-129. Published online September 22, 2017; DOI: https://doi.org/10.14802/jmd.17048

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Abstract PDF

Objective
We aimed to investigate the effect of ropinirole on excessive daytime sleepiness (EDS) and depression in Parkinson’s disease (PD) with a large population.
Methods
We conducted a cross-sectional observational study at nine hospitals in Korea between April 24, 2013, and April 22, 2015. We analyzed the demographic and clinical features, other medical history, history of antiparkinsonian medication within 6 months, Hoehn and Yahr stage (HY stage), Unified Parkinson’s Disease Rating Scale (UPDRS) part II and III, Epworth Sleepiness Scale (ESS), and 30-item Geriatric Depression Scale (GDS-30).
Results
Four-hundred-thirteen patients with PD (mean age: 65.2 ± 9.0 years; men: 227 patients) were analyzed. Multivariate logistic regression analysis showed that age at examination, UPDRS II, and GDS-30 were independent risk factors for EDS and that sex, UPDRS II, and ESS were independent risk factors for depression.
Conclusion
Our large group study did not find any significant associations of ropinirole with EDS and depression in Korean PD patients.

Citations

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Associations between non-motor symptoms and patient characteristics in Parkinson’s disease: a multicenter cross-sectional study
Remi Morimoto, Mutsumi Iijima, Yasuyuki Okuma, Keisuke Suzuki, Fumihito Yoshii, Shigeru Nogawa, Takashi Osada, Kazuo Kitagawa
Frontiers in Aging Neuroscience.2023;[Epub] CrossRef
Excessive Daytime Sleepiness in Parkinson’s Disease
Hanshu Liu, Jingwen Li, Xinyi Wang, Jinsha Huang, Tao Wang, Zhicheng Lin, Nian Xiong
Nature and Science of Sleep.2022; Volume 14: 1589. CrossRef
Excessive daytime sleepiness in Parkinson's disease: A systematic review and meta-analysis
Fei Feng, YingYing Cai, YanBing Hou, Ruwei Ou, Zheng Jiang, HuiFang Shang
Parkinsonism & Related Disorders.2021; 85: 133. CrossRef
Sleep Disorders and Cognitive Dysfunctions in Parkinson’s Disease: A Meta-Analytic Study
Gianpaolo Maggi, Luigi Trojano, Paolo Barone, Gabriella Santangelo
Neuropsychology Review.2021; 31(4): 643. CrossRef
Longitudinal risk factors for developing depressive symptoms in Parkinson's disease
Tarek Antar, Huw R. Morris, Faraz Faghri, Hampton L. Leonard, Mike A. Nalls, Andrew B. Singleton, Hirotaka Iwaki
Journal of the Neurological Sciences.2021; 429: 117615. CrossRef
The effect and safety of ropinirole in the treatment of Parkinson disease
Jiali Zhu, Min Chen
Medicine.2021; 100(46): e27653. CrossRef
Pramipexole regulates depression-like behavior via dopamine D3 receptor in a mouse model of Parkinson’s disease
Shi-Zhuang Wei, Xiao-Yu Yao, Chen-Tao Wang, An-Qi Dong, Dan Li, Yu-Ting Zhang, Chao Ren, Jin-Bao Zhang, Cheng-Jie Mao, Fen Wang, Chun-Feng Liu
Brain Research Bulletin.2021; 177: 363. CrossRef
A selective D2 dopamine receptor agonist alleviates depression through up-regulation of tyrosine hydroxylase and increased neurogenesis in hippocampus of the prenatally stressed rats
Mahino Fatima, Mir Hilal Ahmad, Saurabh Srivastav, Moshahid Alam Rizvi, A.C. Mondal
Neurochemistry International.2020; 136: 104730. CrossRef
‘Dopamine agonist Phobia’ in Parkinson’s disease: when does it matter? Implications for non-motor symptoms and personalized medicine
Silvia Rota, Iro Boura, Lucia Batzu, Nataliya Titova, Peter Jenner, Cristian Falup-Pecurariu, K Ray Chaudhuri
Expert Review of Neurotherapeutics.2020; 20(9): 953. CrossRef
An Investigation on the Clinical Features and Neurochemical Changes in Parkinson's Disease With Depression
Teng-Hong Lian, Peng Guo, Li-Jun Zuo, Yang Hu, Shu-Yang Yu, Li Liu, Zhao Jin, Qiu-Jin Yu, Rui-Dan Wang, Li-Xia Li, Ying-Shan Piao, Wei Zhang
Frontiers in Psychiatry.2019;[Epub] CrossRef

Need for Registration and Reporting of Acupuncture Trials in Parkinson’s Disease in Korea: Timothy E. Lee, Aryun Kim, Mihee Jang, Beomseok Jeon; J Mov Disord. 2017;10(3):130-134. Published online September 22, 2017; DOI: https://doi.org/10.14802/jmd.17047

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Abstract PDF: Objective
Many people dealing with Parkinson’s disease (PD) turn to complementary and alternative medicine when searching for a cure or relief from symptoms. Acupuncture is widely used in the Korean PD population to alleviate symptoms and in hopes of curing the illness. However, acupuncture use for PD patients has only recently begun to be studied scientifically and is still considered an unproven treatment for PD. Therefore, there is an urgent need for acupuncture to be studied, validated and used for PD. Thus, our study’s aim is to examine how many acupuncture studies in PD are registered and reported in Korea.
Methods
The registries Clinicaltrials.gov and the Clinical Research Information Service (CRIS) and the search engine PubMed were searched to find relevant human clinical studies involving acupuncture therapy in PD patients. We examined the registration of trials, the posting and publication of results, and whether published articles were registered.
Results
In Clinicaltrials.gov, one completed trial was found with published results. In CRIS, one completed trial was found with published results. A total of 6 publications were found in our study: 2 articles were registered, but only 1 had the registered trial number listed in the article.
Conclusion
Acupuncture is popular among the PD population in Korea regardless of its unproven safety and efficacy. Despite the pressing need for clinical trials, the number of studies listed in the registries was small, and only a few publications were registered. More effort and rigor are needed to validate the efficacy and safety of acupuncture for PD.

A Comparative Study of Central Hemodynamics in Parkinson’s Disease: Joong Hyun Park, Sang Won Han, Jong Sam Baik; J Mov Disord. 2017;10(3):135-139. Published online August 31, 2017; DOI: https://doi.org/10.14802/jmd.17035

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Abstract PDF

Objective
To explore the central aortic pressure in patients with Parkinson’s disease (PD).
Methods
We investigated central arterial stiffness by measurement of the augmentation index (AIx) in PD patients. Patients were eligible for the study if they were de novo PD and 45 years of age or older. The patients’ demographics, vascular risk factors, and neurologic examinations were collected at baseline. The AIx was measured by applanation tonometry.
Results
A total of 147 subjects (77 in control and 70 in PD groups) were enrolled in the study. While there was no significant difference in peripheral systolic blood pressure (SBP), diastolic blood pressure (DBP), or mean arterial pressure between groups, peripheral pulse pressure (PP) was significantly lower in the PD group than in the control group (p = 0.012). Regarding central pressure, aortic DBP was significantly higher and PP was significantly lower in the PD group (p = 0.001, < 0.0001). Although there was no significant difference in the AIx between the groups, a trend toward a lower AIx was observed in the PD group (31.2% vs. 28.1%, p = 0.074).
Conclusion
This study showed that peripheral and central PP was significantly lower in the PD group than in the control group. Our study suggests that PD patients may have a low risk of a cardiovascular event by reason of a lower PP.

Citations

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Central Aortic Pressure and Arterial Stiffness in Parkinson’s Disease: A Comparative Study
Mehmet Balal, Meltem Demirkiran, Saime Paydas, Seyed-Mohammad Fereshtehnejad
Parkinson's Disease.2022; 2022: 1. CrossRef
Selected autonomic signs and symptoms as risk markers for phenoconversion and functional dependence in prodromal Parkinson’s disease
Cameron Miller-Patterson, Jesse Y. Hsu, Lana M. Chahine, James F. Morley, Allison W. Willis
Clinical Autonomic Research.2022; 32(6): 463. CrossRef
VEGF Signaling in Neurological Disorders
Joon Shim, Joseph Madsen
International Journal of Molecular Sciences.2018; 19(1): 275. CrossRef

Quantitative Gait Analysis in Patients with Huntington’s Disease: Seon Jong Pyo, Hanjun Kim, Il Soo Kim, Young-Min Park, Mi-Jung Kim, Hye Mi Lee, Seong-Beom Koh; J Mov Disord. 2017;10(3):140-144. Published online August 31, 2017; DOI: https://doi.org/10.14802/jmd.17041

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Abstract PDF

Objective
Gait disturbance is the main factor contributing to a negative impact on quality of life in patients with Huntington’s disease (HD). Understanding gait features in patients with HD is essential for planning a successful gait strategy. The aim of this study was to investigate temporospatial gait parameters in patients with HD compared with healthy controls.
Methods
We investigated 7 patients with HD. Diagnosis was confirmed by genetic analysis, and patients were evaluated with the Unified Huntington’s Disease Rating Scale (UHDRS). Gait features were assessed with a gait analyzer. We compared the results of patients with HD to those of 7 age- and sex-matched normal controls.
Results
Step length and stride length were decreased and base of support was increased in the HD group compared to the control group. In addition, coefficients of variability for step and stride length were increased in the HD group. The HD group showed slower walking velocity, an increased stance/swing phase in the gait cycle and a decreased proportion of single support time compared to the control group. Cadence did not differ significantly between groups. Among the UHDRS subscores, total motor score and total behavior score were positively correlated with step length, and total behavior score was positively correlated with walking velocity in patients with HD.
Conclusion
Increased variability in step and stride length, slower walking velocity, increased stance phase, and decreased swing phase and single support time with preserved cadence suggest that HD gait patterns are slow, ataxic and ineffective. This study suggests that quantitative gait analysis is needed to assess gait problems in HD.

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Samaneh Zolfaghari, Sumaiya Suravee, Daniele Riboni, Kristina Yordanova
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The semicircular canal function is preserved with little impact on falls in patients with mild Parkinson's disease
Jun-Pyo Hong, Hanim Kwon, Euyhyun Park, Sun-Uk Lee, Chan-Nyoung Lee, Byung-Jo Kim, Ji-Soo Kim, Kun-Woo Park
Parkinsonism & Related Disorders.2024; 118: 105933. CrossRef
Gene-dosage- and sex-dependent differences in the prodromal-Like phase of the F344tgHD rat model for Huntington disease
Veronika Ratz-Wirsching, Johanna Habermeyer, Sandra Moceri, Julia Harrer, Christoph Schmitz, Stephan von Hörsten
Frontiers in Neuroscience.2024;[Epub] CrossRef
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David Sing Yee Vun, Robert Bowers, Anthony McGarry
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Manuel Lozano-García, Emer P. Doheny, Elliot Mann, Philippa Morgan-Jones, Cheney Drew, Monica Busse-Morris, Madeleine M. Lowery
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S.M.H. Sithi Shameem Fathima, K.A. Jyotsna, Thiruveedula Srinivasulu, Kande Archana, M. Tulasi rama, S. Ravichand
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Grazia Cicirelli, Donato Impedovo, Vincenzo Dentamaro, Roberto Marani, Giuseppe Pirlo, Tiziana R. D'Orazio
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Alexandra-Maria Tăuţan, Bogdan Ionescu, Emiliano Santarnecchi
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Nicollette L. Purcell, Jennifer G. Goldman, Bichun Ouyang, Yuanqing Liu, Bryan Bernard, Joan A. O’Keefe, Pedro Gonzalez-Alegre
PLOS ONE.2020; 15(1): e0226827. CrossRef
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Heiko Gaßner, Dennis Jensen, F. Marxreiter, Anja Kletsch, Stefan Bohlen, Robin Schubert, Lisa M. Muratori, Bjoern Eskofier, Jochen Klucken, Jürgen Winkler, Ralf Reilmann, Zacharias Kohl
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P. Stepanova, V. Srinivasan, D. Lindholm, M. H. Voutilainen
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Kartikay Gupta, Aayushi Khajuria, Niladri Chatterjee, Pradeep Joshi, Deepak Joshi
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Case Reports

‘Hummingbird’ Sign in a Patient with Guam Parkinsonism-Dementia Complex: Tianrong Yeo, Louis CS Tan; J Mov Disord. 2017;10(3):145-148. Published online August 8, 2017; DOI: https://doi.org/10.14802/jmd.17025

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Abstract PDF Supplementary Material

We present a case of a 71-year-old male Chamorro patient from Guam who presented with progressive supranuclear palsy (PSP)-Richardson’s syndrome. Considering his strong family history of parkinsonism and a PSP phenotype, he was clinically diagnosed with Guam parkinsonism-dementia complex (PDC). Magnetic resonance imaging (MRI) of the brain revealed prominent midbrain atrophy with preserved pontine volume, forming the ‘hummingbird’ sign, which has not been described before in Guam PDC. Molecular analysis of the chromosome 9 open reading frame 72 gene (C9orf72) showed only 6 GGGGCC repeats. We discuss the clinico-pathological similarities and differences between PSP and Guam PDC, and highlight the topography of neuropathological changes seen in Guam PDC to explain the appearance of the ‘hummingbird’ sign on MRI.

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Discriminative pattern of reduced cerebral blood flow in Parkinson’s disease and Parkinsonism-Plus syndrome: an ASL-MRI study
Lina Cheng, Xiaoyan Wu, Ruomi Guo, Yuzhou Wang, Wensheng Wang, Peng He, Hanbo Lin, Jun Shen
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Tauopathy and Movement Disorders—Unveiling the Chameleons and Mimics
Jacky Ganguly, Mandar Jog
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Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review: Kye Won Park, Ho-Sung Ryu, Juyeon Kim, Sun Ju Chung; J Mov Disord. 2017;10(3):149-153. Published online September 22, 2017; DOI: https://doi.org/10.14802/jmd.17050

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Abstract PDF Supplementary Material

Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disease caused by mutations of the human gap junction alpha 1 gene, which encodes the protein Connexin-43. Patients with ODDD may present with neurological deficits with a typical pleiotropic combination of characteristic craniofacial, ophthalmological, phalangeal, and dental anomalies. In this report, we describe the first genetically confirmed Korean ODDD patient, who presented with spastic paraparesis. We will also review the neurological aspects of ODDD as reported in the literature.

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Glial Connexins and Pannexins in the Healthy and Diseased Brain
Christian Giaume, Christian C. Naus, Juan C. Sáez, Luc Leybaert
Physiological Reviews.2021; 101(1): 93. CrossRef
Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases
Virang Kumar, Natario L. Couser, Arti Pandya
Case Reports in Ophthalmological Medicine.2020; 2020: 1. CrossRef
Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review
Zhirong Wang, Limei Sun, Panfeng Wang, Chonglin Chen, Aiyuan Zhang, Weiqing Wang, Xiaoyan Ding
Ophthalmic Genetics.2019; 40(1): 54. CrossRef
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
I. Harting, S. Karch, U. Moog, A. Seitz, P.J.W. Pouwels, N.I. Wolf
American Journal of Neuroradiology.2019; 40(5): 903. CrossRef

A Patient with Recurrent Dyskinesia and Hyperpyrexia Syndrome: Min Seok Baek, Hyung Woo Lee, Chul Hyoung Lyoo; J Mov Disord. 2017;10(3):154-157. Published online July 14, 2017; DOI: https://doi.org/10.14802/jmd.17022

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Abstract PDF

Dyskinesia hyperpyrexia syndrome is a rare medical emergency in Parkinson’s disease. It is characterized by continuous dyskinesia associated with hyperthermia, rhabdomyolysis, and alteration of the mental state. We present the case of a 74-year-old woman who presented with recurrent dyskinesia hyperpyrexia syndrome. Although some provocation factors and clinical manifestations seem to be shared with parkinsonism hyperpyrexia syndrome, a clear distinction in management should be considered.

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Dyskinesia-hyperpyrexia syndrome in Parkinson's disease triggered by overdose of levodopa — a case report and literature review
Xiangnan Du, Xuemei Wang, Xiaokun Geng
Frontiers in Neurology.2024;[Epub] CrossRef
Case report: Reversible encephalopathy caused by dyskinesia-hyperpyrexia syndrome
Bohan Luo, Hainan Zhang, Lixia Qin
Frontiers in Neurology.2023;[Epub] CrossRef
Parkinsonism-Hyperpyrexia Syndrome and Dyskinesia-Hyperpyrexia Syndrome in Parkinson’s Disease: Two Cases and Literature Review
Jian-Yong Wang, Jie-Fan Huang, Shi-Guo Zhu, Shi-Shi Huang, Rong-Pei Liu, Bei-Lei Hu, Jian-Hong Zhu, Xiong Zhang
Journal of Parkinson's Disease.2022; 12(6): 1727. CrossRef
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Shota Komori, Takashi Tsuboi, Masashi Suzuki, Tomohiko Nakamura, Masahisa Katsuno
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Dyskinesia-hyperpyrexia syndrome in Parkinson’s disease: a systematic review
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Rhabdomyolysis Associated with Severe Levodopa-Induced Dyskinesia in Parkinson’s Disease: A Report of Two Cases and Literature Review
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Tremor and Other Hyperkinetic Movements.2021;[Epub] CrossRef
Dyskinesia‐Hyperpyrexia Syndrome in Parkinson's Disease: A Heat Shock–Related Emergency?
Marianna Sarchioto, Valeria Ricchi, Marta Melis, Marcello Deriu, Roberta Arca, Maurizio Melis, Francesca Morgante, Giovanni Cossu
Movement Disorders Clinical Practice.2018; 5(5): 534. CrossRef

Spinal Myoclonus Responding to Continuous Intrathecal Morphine Pump: Jung-Eun Ahn, Dallah Yoo, Ki-Young Jung, Jong-Min Kim, Beomseok Jeon, Myung Chong Lee; J Mov Disord. 2017;10(3):158-160. Published online September 12, 2017; DOI: https://doi.org/10.14802/jmd.17023

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Abstract PDF

Spinal myoclonus is a sudden, brief, and involuntary movement of segmental or propriospinal muscle groups. Spinal myoclonus has occasionally been reported in patients undergoing opioid therapy, but the pathophysiology of opioid-induced myoclonus has not been elucidated yet. Here, we present two patients with spinal segmental myoclonus secondary to ischemic and radiation myelopathy. Conventional medications did not help treat persistent myoclonus in both legs. Continuous intrathecal morphine infusion was implanted for pain control in one patient, which relieved spinal myoclonus entirely. This experience led to the application of this method with a second patient, leading to the same gratifying result. Spinal myoclonus reemerged as soon as the morphine pumps were off, which confirmed the therapeutic role of opioids. In contrast to the opioid-induced myoclonus, these cases show a benefit of opioids on spinal myoclonus, which could be explained by synaptic reorganization after pathologic insults in the spinal cord.

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Shabbir Hussain I. Merchant, Felipe Vial‐Undurraga, Giorgio Leodori, Jay A. van Gerpen, Mark Hallett
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