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Original Article
Potential Link Between Cognition and Motor Reserve in Patients With Parkinson’s Disease
Seok Jong Chung, Yae Ji Kim, Yun Joong Kim, Hye Sun Lee, Mijin Yun, Phil Hyu Lee, Yong Jeong, Young H. Sohn
J Mov Disord. 2022;15(3):249-257.   Published online September 7, 2022
DOI: https://doi.org/10.14802/jmd.22063
  • 558 View
  • 63 Download
AbstractAbstract PDFSupplementary Material
Objective
To investigate whether there is a link between cognitive function and motor reserve (i.e., individual capacity to cope with nigrostriatal dopamine depletion) in patients with newly diagnosed Parkinson’s disease (PD).
Methods
A total of 163 patients with drug-naïve PD who underwent 18F-FP-CIT PET, brain MRI, and a detailed neuropsychological test were enrolled. We estimated individual motor reserve based on initial motor deficits and striatal dopamine depletion using a residual model. We performed correlation analyses between motor reserve estimates and cognitive composite scores. Diffusion connectometry analysis was performed to map the white matter fiber tracts, of which fractional anisotropy (FA) values were well correlated with motor reserve estimates. Additionally, Cox regression analysis was used to assess the effect of initial motor reserve on the risk of dementia conversion.
Results
The motor reserve estimate was positively correlated with the composite score of the verbal memory function domain (γ = 0.246) and with the years of education (γ = 0.251). Connectometry analysis showed that FA values in the left fornix were positively correlated with the motor reserve estimate, while no fiber tracts were negatively correlated with the motor reserve estimate. Cox regression analysis demonstrated that higher motor reserve estimates tended to be associated with a lower risk of dementia conversion (hazard ratio, 0.781; 95% confidence interval, 0.576–1.058).
Conclusion
The present study demonstrated that the motor reserve estimate was well correlated with verbal memory function and with white matter integrity in the left fornix, suggesting a possible link between cognition and motor reserve in patients with PD.
Review Article
Emerging Concepts of Motor Reserve in Parkinson’s Disease
Seok Jong Chung, Jae Jung Lee, Phil Hyu Lee, Young H. Sohn
J Mov Disord. 2020;13(3):171-184.   Published online August 31, 2020
DOI: https://doi.org/10.14802/jmd.20029
  • 7,274 View
  • 271 Download
  • 18 Citations
AbstractAbstract PDF
The concept of cognitive reserve (CR) in Alzheimer’s disease (AD) explains the differences between individuals in their susceptibility to AD-related pathologies. An enhanced CR may lead to less cognitive deficits despite severe pathological lesions. Parkinson’s disease (PD) is also a common neurodegenerative disease and is mainly characterized by motor dysfunction related to striatal dopaminergic depletion. The degree of motor deficits in PD is closely correlated to the degree of dopamine depletion; however, significant individual variations still exist. Therefore, we hypothesized that the presence of motor reserve (MR) in PD explains the individual differences in motor deficits despite similar levels of striatal dopamine depletion. Since 2015, we have performed a series of studies investigating MR in de novo patients with PD using the data of initial clinical presentation and dopamine transporter PET scan. In this review, we summarized the results of these published studies. In particular, some premorbid experiences (i.e., physical activity and education) and modifiable factors (i.e., body mass index and white matter hyperintensity on brain image studies) could modulate an individual’s capacity to tolerate PD pathology, which can be maintained throughout disease progression.

Citations

Citations to this article as recorded by  
  • Premorbid Educational Attainment and Long-Term Motor Prognosis in Parkinson’s Disease
    Seong Ho Jeong, Seok Jong Chung, Han Soo Yoo, Jin Ho Jung, Kyoungwon Baik, Yang Hyun Lee, Phil Hyu Lee, Young H. Sohn
    Journal of Parkinson's Disease.2022; 12(1): 129.     CrossRef
  • Parkinsonism and cerebrovascular disease
    Manisha Narasimhan, Raymond Schwartz, Glenda Halliday
    Journal of the Neurological Sciences.2022; 433: 120011.     CrossRef
  • Impact of α‐synuclein spreading on the nigrostriatal dopaminergic pathway depends on the onset of the pathology
    Fanfan Sun, Armando G. Salinas, Severin Filser, Sonja Blumenstock, Jose Medina‐Luque, Jochen Herms, Carmelo Sgobio
    Brain Pathology.2022;[Epub]     CrossRef
  • Premorbid cancer and motor reserve in patients with Parkinson’s disease
    Yoon-Sang Oh, Sang-Won Yoo, Chul Hyoung Lyoo, Kwang-Soo Lee, Joong-Seok Kim
    Scientific Reports.2022;[Epub]     CrossRef
  • Behavioral Reserve in Behavioral Variant Frontotemporal Dementia
    Su Hong Kim, Yae Ji Kim, Byung Hwa Lee, Peter Lee, Ji Hyung Park, Sang Won Seo, Yong Jeong
    Frontiers in Aging Neuroscience.2022;[Epub]     CrossRef
  • Identifying the white matter structural network of motor reserve in early Parkinson's disease
    Yae Ji Kim, Chan Wook Park, Hye Won Shin, Hye Sun Lee, Yun Joong Kim, Mijin Yun, Phil Hyu Lee, Young H. Sohn, Yong Jeong, Seok Jong Chung
    Parkinsonism & Related Disorders.2022; 102: 108.     CrossRef
  • Motor progression marker for newly diagnosed drug‐naïve patients with Parkinson's disease: A resting‐state functional MRI study
    Yanbing Hou, Lingyu Zhang, Ruwei Ou, Qianqian Wei, Xiaojing Gu, Kuncheng Liu, Junyu Lin, Tianmi Yang, Yi Xiao, Qiyong Gong, Huifang Shang
    Human Brain Mapping.2022;[Epub]     CrossRef
  • Comparison of disease progression between brain-predominant Parkinson's disease versus Parkinson's disease with body-involvement phenotypes
    Dong-Woo Ryu, Sang-Won Yoo, Yoon-Sang Oh, Kwang-Soo Lee, Seunggyun Ha, Joong-Seok Kim
    Neurobiology of Disease.2022; 174: 105883.     CrossRef
  • Genetically-informed prediction of short-term Parkinson’s disease progression
    Hossein J. Sadaei, Aldo Cordova-Palomera, Jonghun Lee, Jaya Padmanabhan, Shang-Fu Chen, Nathan E. Wineinger, Raquel Dias, Daria Prilutsky, Sandor Szalma, Ali Torkamani
    npj Parkinson's Disease.2022;[Epub]     CrossRef
  • Potential Link Between Cognition and Motor Reserve in Patients With Parkinson’s Disease
    Seok Jong Chung, Yae Ji Kim, Yun Joong Kim, Hye Sun Lee, Mijin Yun, Phil Hyu Lee, Yong Jeong, Young H. Sohn
    Journal of Movement Disorders.2022; 15(3): 249.     CrossRef
  • The Concept of Motor Reserve in Parkinson's Disease: New Wine in Old Bottles?
    Merle C. Hoenig, Verena Dzialas, Alexander Drzezga, Thilo van Eimeren
    Movement Disorders.2022;[Epub]     CrossRef
  • Local striatal volume and motor reserve in drug-naïve Parkinson’s disease
    Seong Ho Jeong, Eun-Chong Lee, Seok Jong Chung, Hye Sun Lee, Jin Ho Jung, Young H. Sohn, Joon-Kyung Seong, Phil Hyu Lee
    npj Parkinson's Disease.2022;[Epub]     CrossRef
  • Patterns of striatal dopamine depletion and motor deficits in de novo Parkinson’s disease
    Seong Ho Jeong, Chan Wook Park, Hye Sun Lee, Yun Joong Kim, Mijin Yun, Phil Hyu Lee, Young H. Sohn, Seok Jong Chung
    Journal of Neural Transmission.2022;[Epub]     CrossRef
  • Effectiveness and safety of electroacupuncture in treating Parkinson disease
    Wei Xu, Sha OuYang, Zhenhai Chi, ZhiQin Wang, DaoCheng Zhu, RiXin Chen, GenPing Zhong, FengTing Zhang, GuiQin Zhou, SiWei Duan, Lin Jiao
    Medicine.2021; 100(10): e25095.     CrossRef
  • Differences in cause and 12-month follow-up outcome of parkinsonian symptoms in depressed older adults treated with antipsychotics: a case series
    Anastasios Politis, Nikolaos Kokras, Michael Souvatzoglou, Kostas Siarkos, Panagiotis Toulas, Constantin Potagas, Theodoros Hatzipanagiotou, Georgios Limouris, Panagiotis Alexopoulos
    BMC Psychiatry.2021;[Epub]     CrossRef
  • Effectiveness and safety of moxibustion for Parkinson disease
    Yonghui Hou, Baile Ning, Yamin Liu, Ying Liu, Wenbin Fu, Zehuai Wen
    Medicine.2021; 100(23): e26256.     CrossRef
  • Glucocerebrosidase Mutations and Motor Reserve in Parkinson’s Disease
    Seok Jong Chung, Phil Hyu Lee, Young H. Sohn, Yun Joong Kim
    Journal of Parkinson's Disease.2021; 11(4): 1715.     CrossRef
  • Analysis of pupillometer results according to disease stage in patients with Parkinson’s disease
    Sooyeoun You, Jeong-Ho Hong, Joonsang Yoo
    Scientific Reports.2021;[Epub]     CrossRef
Original Article
Association between Olfactory Deficit and Motor and Cognitive Function in Parkinson’s Disease
Han Soo Yoo, Seok Jong Chung, Yang Hyun Lee, Byoung Seok Ye, Young H. Sohn, Phil Hyu Lee
J Mov Disord. 2020;13(2):133-141.   Published online April 6, 2020
DOI: https://doi.org/10.14802/jmd.19082
  • 6,669 View
  • 247 Download
  • 13 Citations
AbstractAbstract PDFSupplementary Material
Objective
To investigate whether baseline olfactory dysfunction in Parkinson’s disease (PD) patients is associated with baseline and longitudinal motor and cognitive function.
Methods
We recruited 228 drug-naïve PD patients who were followed for a mean of 6 years. Patients underwent the Cross-Cultural Smell Identification Test (CCSIT), a neuropsychological test, and N-(3-[18F]fluoropropyl)-2β-carbomethoxy-3β-(4-iodophenyl) nortropane positron emission tomography within 6 months of the baseline evaluation. Olfactory dysfunction was categorized as normosmia (CCSIT score ≥ 9), hyposmia (CCSIT score 5–8), and anosmia (CCSIT score ≤ 4). During the follow-up period, we investigated changes in the levodopa-equivalent dose (LED) and the occurrence of wearing-off, levodopa-induced dyskinesia, and dementia.
Results
Among the PD patients, 80.7% were hyposmic at the time of diagnosis, and 26.1% were anosmic. Baseline olfactory dysfunction was not associated with either initial parkinsonian motor symptoms or with the longitudinal LED increment and motor complications. Meanwhile, the anosmic group had lower baseline scores on the Korea version of the Boston Naming Test and Stroop color reading test than the normosmic and hyposmic groups. The anosmic group exhibited a higher rate of conversion to dementia than the normosmic [adjusted hazard ratio (HR) 3.99, 95% confidence interval (CI) 1.08–14.72] and hyposmic (adjusted HR 2.48, 95% CI 1.15–5.32) PD groups, regardless of baseline motor deficits and cognitive status.
Conclusion
Baseline olfactory dysfunction was not associated with motor deficits and complications, but it was associated with cognitive dysfunction and prognosis, suggesting that severe olfactory impairment may reflect early cortical involvement, probably in the frontotemporal region, and rapid spreading of Lewy body pathology.

Citations

Citations to this article as recorded by  
  • Olfactory dysfunction is associated with motor function only in tremor-dominant Parkinson’s disease
    Fardin Nabizadeh, Kasra Pirahesh, Elham Khalili
    Neurological Sciences.2022; 43(7): 4193.     CrossRef
  • Novel diagnostic tools for identifying cognitive impairment using olfactory-stimulated functional near-infrared spectroscopy: patient-level, single-group, diagnostic trial
    Jaewon Kim, Dong Keon Yon, Kyu Yeong Choi, Jang Jae Lee, Namwoo Kim, Kun Ho Lee, Jae Gwan Kim
    Alzheimer's Research & Therapy.2022;[Epub]     CrossRef
  • The Role of Olfactory System in the Etiogenesis of Parkinson’s Diseases: An Overview
    Jiju Narayanan Avanipully, Dithu Thekkekkara, Sahyadri M, Vipan K. Parihar, Santhepete Nanjundaiah Manjula
    Journal of Pharmacology and Pharmacotherapeutics.2022; 13(1): 31.     CrossRef
  • International consensus statement on allergy and rhinology: Olfaction
    Zara M. Patel, Eric H. Holbrook, Justin H. Turner, Nithin D. Adappa, Mark W. Albers, Aytug Altundag, Simone Appenzeller, Richard M. Costanzo, Ilona Croy, Greg E. Davis, Puya Dehgani‐Mobaraki, Richard L. Doty, Valerie B. Duffy, Bradley J. Goldstein, David
    International Forum of Allergy & Rhinology.2022; 12(4): 327.     CrossRef
  • Does Olfactory Dysfunction Correlate with Disease Progression in Parkinson’s Disease? A Systematic Review of the Current Literature
    Tommaso Ercoli, Carla Masala, Gianluca Cadeddu, Marcello Mario Mascia, Gianni Orofino, Angelo Fabio Gigante, Paolo Solla, Giovanni Defazio, Lorenzo Rocchi
    Brain Sciences.2022; 12(5): 513.     CrossRef
  • Olfactory dysfunction and striatal dopamine transporter binding in motor subtypes of Parkinson’s disease
    Fardin Nabizadeh, Fatemeh Sodeifian, Kasra Pirahesh
    Neurological Sciences.2022; 43(8): 4745.     CrossRef
  • Olfaction and Executive Cognitive Performance: A Systematic Review
    Vasudeva Murthy Challakere Ramaswamy, Peter William Schofield
    Frontiers in Psychology.2022;[Epub]     CrossRef
  • Nasal and Parotid Blood Pool Activity Is Significantly Correlated with Metabolic Syndrome Components and Sleep Apnea
    William T. Phillips, Nasser J. Issa, Shereef B. Elhalwagi, Hilda T. Draeger, Joyce G. Schwartz, Jonathan A. Gelfond
    Metabolic Syndrome and Related Disorders.2022; 20(7): 395.     CrossRef
  • Chronic neuropsychiatric sequelae of SARS‐CoV‐2: Protocol and methods from the Alzheimer's Association Global Consortium
    Gabriel A. de Erausquin, Heather Snyder, Traolach S. Brugha, Sudha Seshadri, Maria Carrillo, Rajesh Sagar, Yueqin Huang, Charles Newton, Carmela Tartaglia, Charlotte Teunissen, Krister Håkanson, Rufus Akinyemi, Kameshwar Prasad, Giovanni D'Avossa, Gabriel
    Alzheimer's & Dementia: Translational Research & Clinical Interventions.2022;[Epub]     CrossRef
  • Machine learning-based prediction of cognitive outcomes in de novo Parkinson’s disease
    Joshua Harvey, Rick A. Reijnders, Rachel Cavill, Annelien Duits, Sebastian Köhler, Lars Eijssen, Bart P. F. Rutten, Gemma Shireby, Ali Torkamani, Byron Creese, Albert F. G. Leentjens, Katie Lunnon, Ehsan Pishva
    npj Parkinson's Disease.2022;[Epub]     CrossRef
  • Impact of Subthalamic Deep Brain Stimulation on Hyposmia in Patients With Parkinson's Disease Is Influenced by Constipation and Dysbiosis of Microbiota
    Chao Li, Ying Hou, Xu Wang, Yue-xuan Li, Feng Li, Chao Zhang, Wei-guo Li
    Frontiers in Neurology.2021;[Epub]     CrossRef
  • Hyposmia may predict development of freezing of gait in Parkinson’s disease
    Jae Jung Lee, Jin Yong Hong, Jong Sam Baik
    Journal of Neural Transmission.2021; 128(6): 763.     CrossRef
  • Clinical and Dopamine Depletion Patterns in Hyposmia- and Dysautonomia-Dominant Parkinson’s Disease
    Han Soo Yoo, Sangwon Lee, Seong Ho Jeong, Byoung Seok Ye, Young H. Sohn, Mijin Yun, Phil Hyu Lee
    Journal of Parkinson's Disease.2021; 11(4): 1703.     CrossRef
Case Report
A Case of Abnormal Postures in the Left Extremities after Pontine Hemorrhage: Dystonia or Pseudodystonia?
Chan Wook Park, Seok Jong Chung, Young H. Sohn, Phil Hyu Lee
J Mov Disord. 2020;13(1):62-65.   Published online January 31, 2020
DOI: https://doi.org/10.14802/jmd.19074
  • 3,720 View
  • 121 Download
  • 1 Citations
AbstractAbstract PDFSupplementary Material
It is difficult to determine the pathoanatomical correlates of dystonia because of its complex pathophysiology, and most cases with secondary dystonia are associated with basal ganglia lesions. Moreover, it is a challenging issue that patients with abnormal postures accompanied by other neurological findings in the affected body part (e.g., sensory loss) can be diagnosed with true dystonia or pseudodystonia. Here, we report a case of abnormal postures with loss of proprioception in the left extremities after right dorsal pontine hemorrhage.

Citations

Citations to this article as recorded by  
  • Hemidystonia after Pontine Hemorrhage Successfully Treated with Pharmacotherapy and Intensive Rehabilitation: a Case Report
    Gyu Seong Kim, Yeon Gyu Jeong, Yoon Jeong Jeong, Seo Yeon Yoon
    Brain & Neurorehabilitation.2021;[Epub]     CrossRef
Original Article
Heterogeneous Patterns of Striatal Dopamine Loss in Patients with Young- versus Old-Onset Parkinson’s Disease: Impact on Clinical Features
Seok Jong Chung, Han Soo Yoo, Yang Hyun Lee, Phil Hyu Lee, Young H. Sohn
J Mov Disord. 2019;12(2):113-119.   Published online May 30, 2019
DOI: https://doi.org/10.14802/jmd.18064
  • 5,697 View
  • 136 Download
  • 16 Citations
AbstractAbstract PDFSupplementary Material
Objective
Ample evidence has suggested that age at onset of Parkinson’s disease (PD) is associated with heterogeneous clinical features in individuals. We hypothesized that this may be attributed to different patterns of nigrostriatal dopamine loss.
Methods
A total of 205 consecutive patients with de novo PD who underwent 18F-FP-CIT PET scans (mean follow-up duration, 6.31 years) were divided into three tertile groups according to their age at onset of parkinsonian motor symptoms. Striatal dopamine transporter (DAT) availability was compared between the old- (n = 73) and young-onset (n = 66) groups. In addition, the risk of developing freezing of gait (FOG) and longitudinal requirements for dopaminergic medications were examined.
Results
The old-onset PD group (mean age at onset, 72.66 years) exhibited more severe parkinsonian motor signs than the young-onset group (52.58 years), despite comparable DAT availability in the posterior putamen; moreover, the old-onset group exhibited more severely decreased DAT availability in the caudate than the young-onset group. A Cox regression model revealed that the old-onset PD group had a higher risk for developing FOG than the young-onset group [hazard ratio 2.523, 95% confidence interval (1.239–5.140)]. The old-onset group required higher doses of dopaminergic medications for symptom control than the young-onset group over time.
Conclusion
The present study demonstrated that the old-onset PD group exhibited more severe dopamine loss in the caudate and were more likely to develop gait freezing, suggesting that age at onset may be one of the major determinants of the pattern of striatal dopamine depletion and progression of gait disturbance in PD.

Citations

Citations to this article as recorded by  
  • Premorbid Educational Attainment and Long-Term Motor Prognosis in Parkinson’s Disease
    Seong Ho Jeong, Seok Jong Chung, Han Soo Yoo, Jin Ho Jung, Kyoungwon Baik, Yang Hyun Lee, Phil Hyu Lee, Young H. Sohn
    Journal of Parkinson's Disease.2022; 12(1): 129.     CrossRef
  • Treatment Enhances Betweenness Centrality of Fronto-Parietal Network in Parkinson’s Patients
    Qing Liu, ZhongYan Shi, Kexin Wang, Tiantian Liu, Shintaro Funahashi, Jinglong Wu, Jian Zhang
    Frontiers in Computational Neuroscience.2022;[Epub]     CrossRef
  • Identifying the white matter structural network of motor reserve in early Parkinson's disease
    Yae Ji Kim, Chan Wook Park, Hye Won Shin, Hye Sun Lee, Yun Joong Kim, Mijin Yun, Phil Hyu Lee, Young H. Sohn, Yong Jeong, Seok Jong Chung
    Parkinsonism & Related Disorders.2022; 102: 108.     CrossRef
  • The Concept of Motor Reserve in Parkinson's Disease: New Wine in Old Bottles?
    Merle C. Hoenig, Verena Dzialas, Alexander Drzezga, Thilo van Eimeren
    Movement Disorders.2022;[Epub]     CrossRef
  • Potential Link Between Cognition and Motor Reserve in Patients With Parkinson’s Disease
    Seok Jong Chung, Yae Ji Kim, Yun Joong Kim, Hye Sun Lee, Mijin Yun, Phil Hyu Lee, Yong Jeong, Young H. Sohn
    Journal of Movement Disorders.2022; 15(3): 249.     CrossRef
  • Gut microbiota-derived metabolite trimethylamine N-oxide as a biomarker in early Parkinson's disease
    Seok Jong Chung, John Hoon Rim, Dajeong Ji, Sangwon Lee, Han Soo Yoo, Jin Ho Jung, KyoungWon Baik, Yonghoon Choi, Byoung Seok Ye, Young H. Sohn, Mijin Yun, Sang-Guk Lee, Phil Hyu Lee
    Nutrition.2021; 83: 111090.     CrossRef
  • White Matter Hyperintensities, Dopamine Loss, and Motor Deficits in De Novo Parkinson's Disease
    Seong Ho Jeong, Hye Sun Lee, Jin Ho Jung, Kyoungwon Baik, Yang Hyun Lee, Han Soo Yoo, Young H. Sohn, Seok Jong Chung, Phil Hyu Lee
    Movement Disorders.2021; 36(6): 1411.     CrossRef
  • Temporalis Muscle Thickness as an Indicator of Sarcopenia Is Associated With Long-term Motor Outcomes in Parkinson’s Disease
    Seok Jong Chung, Yun Joong Kim, Han Soo Yoo, Jin Ho Jung, KyoungWon Baik, Hye Sun Lee, Yang Hyun Lee, Ji-Man Hong, Young H Sohn, Phil Hyu Lee, Jay Magaziner
    The Journals of Gerontology: Series A.2021; 76(12): 2242.     CrossRef
  • Perivascular Spaces in the Basal Ganglia and Long-term Motor Prognosis in Newly Diagnosed Parkinson Disease
    Seok Jong Chung, Han Soo Yoo, Na-Young Shin, Yae Won Park, Hye Sun Lee, Ji-Man Hong, Yun Joong Kim, Seung-Koo Lee, Phil Hyu Lee, Young H. Sohn
    Neurology.2021; 96(16): e2121.     CrossRef
  • Diagnosis and treatment of old-onset Parkinson's disease
    久大 立花
    Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics.2021; 58(3): 341.     CrossRef
  • Genetic factors affecting dopaminergic deterioration during the premotor stage of Parkinson disease
    Myung Jun Lee, Kyoungjune Pak, Han-Kyeol Kim, Kelly N. Nudelman, Jong Hun Kim, Yun Hak Kim, Junho Kang, Min Seok Baek, Chul Hyoung Lyoo
    npj Parkinson's Disease.2021;[Epub]     CrossRef
  • Dopamine Transporter, Age, and Motor Complications in Parkinson's Disease: A Clinical and Single‐Photon Emission Computed Tomography Study
    Giovanni Palermo, Sara Giannoni, Daniela Frosini, Riccardo Morganti, Duccio Volterrani, Ubaldo Bonuccelli, Nicola Pavese, Roberto Ceravolo
    Movement Disorders.2020; 35(6): 1028.     CrossRef
  • Positron emission tomography/computed tomography dual imaging using 18-fluorine flurodeoxyglucose and 11C-labeled 2-β-carbomethoxy-3-β-(4-fluorophenyl) tropane for the severity assessment of Parkinson disease
    Xiaohong Li, Qizhou Zhang, Yongde Qin, Yubin Li, Nazimuguli Mutaerbieke, Xiaojia Zhao, Amina Yibulayin
    Medicine.2020; 99(14): e19662.     CrossRef
  • DaTSCAN (123I-FP-CIT SPECT) imaging in early versus mid and late onset Parkinson's disease: Longitudinal data from the PPMI study
    Christos Koros, Athina-Maria Simitsi, Andreas Prentakis, Nikolaos Papagiannakis, Anastasia Bougea, Ioanna Pachi, Dimitra Papadimitriou, Ion Beratis, Sokratis G. Papageorgiou, Maria Stamelou, Xenia Geronicola Trapali, Leonidas Stefanis
    Parkinsonism & Related Disorders.2020; 77: 36.     CrossRef
  • Prediction of age at onset in Parkinson’s disease using objective specific neuroimaging genetics based on a sparse canonical correlation analysis
    Ji Hye Won, Mansu Kim, Jinyoung Youn, Hyunjin Park
    Scientific Reports.2020;[Epub]     CrossRef
  • Emerging Concepts of Motor Reserve in Parkinson’s Disease
    Seok Jong Chung, Jae Jung Lee, Phil Hyu Lee, Young H. Sohn
    Journal of Movement Disorders.2020; 13(3): 171.     CrossRef
Case Report
Familial Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes
Yoonju Lee, Nan Young Kim, Sangkyoon Hong, Su Jin Chung, Seong Ho Jeong, Phil Hyu Lee, Young H. Sohn
J Mov Disord. 2017;10(1):53-58.   Published online December 27, 2016
DOI: https://doi.org/10.14802/jmd.16044
  • 8,843 View
  • 173 Download
  • 11 Citations
AbstractAbstract PDFSupplementary Material
Familial hyperekplexia, also called startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch. It can be associated with serious injury from frequent falls, apnea spells, and aspiration pneumonia. Familial hyperekplexia has a heterogeneous genetic background with several identified causative genes; it demonstrates both dominant and recessive inheritance in the α1 subunit of the glycine receptor (GLRA1), the β subunit of the glycine receptor and the presynaptic sodium and chloride-dependent glycine transporter 2 genes. Clonazepam is an effective medical treatment for hyperekplexia. Here, we report genetically confirmed familial hyperekplexia patients presenting early adult cautious gait. Additionally, we review clinical features, mode of inheritance, ethnicity and the types and locations of mutations of previously reported hyperekplexia cases with a GLRA1 gene mutation.

Citations

Citations to this article as recorded by  
  • Hereditary hyperekplexia: a new family and a systematic review of GLRA1 gene-related phenotypes
    Elisabetta Ferraroli, Marco Perulli, Chiara Veredice, Ilaria Contaldo, Michela Quintiliani, Martina Ricci, Ilaria Venezia, Luigi Citrigno, Antonio Qualtieri, Patrizia Spadafora, Francesca Cavalcanti, Domenica Immacolata Battaglia
    Pediatric Neurology.2022;[Epub]     CrossRef
  • Paroxysmal Nonepileptic Events in Children
    Ilaria Lagorio, Lorenzo Brunelli, Pasquale Striano
    Neurology: Clinical Practice.2022; 12(4): 320.     CrossRef
  • Four Turkish families with hyperekplexia: A missense mutation and the exon 1–7 deletion in the GLRA1 gene
    Didem Tezen, Gülşah Şimşir, Özlem Çokar, Veysi Demirbilek, A. Nazlı Başak, Zuhal Yapıcı
    Parkinsonism & Related Disorders.2022; 105: 128.     CrossRef
  • Advances in hyperekplexia and other startle syndromes
    Fei-xia Zhan, Shi-Ge Wang, Li Cao
    Neurological Sciences.2021; 42(10): 4095.     CrossRef
  • A Case of Hyperekplexia That Started From Childhood: Clinical Diagnosis With Negative Genetic Investigations
    Annibale Antonioni, Giovanni Peschi, Enrico Granieri
    Frontiers in Neurology.2020;[Epub]     CrossRef
  • Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia
    Feixia Zhan, Chao Zhang, Shige Wang, Zeyu Zhu, Guang Chen, Mingliang Zhao, Li Cao
    Journal of Clinical Neurology.2020; 16(2): 230.     CrossRef
  • C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia
    Yan Zhang, Ling-Ling Wu, Xiao-Lan Zheng, Cai-Mei Lin
    Medicine.2020; 99(17): e19968.     CrossRef
  • Hyperekplexia and other startle syndromes
    Arushi Gahlot Saini, Sanjay Pandey
    Journal of the Neurological Sciences.2020; 416: 117051.     CrossRef
  • Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
    Teresa Sprovieri, Carmine Ungaro, Serena Sivo, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Luigi Citrigno, Maria Muglia, Francesca Cavalcanti, Sebastiano Cavallaro, Eugenio Mercuri, Domenica Battaglia
    BMC Medical Genetics.2019;[Epub]     CrossRef
  • Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene?
    Zhi Huang, Yajun Lian, Hongliang Xu, Haifeng Zhang
    Seizure.2018; 58: 6.     CrossRef
  • A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature
    Zhiliang Yang, Guilian Sun, Fang Yao, Dongying Tao, Binlu Zhu
    BMC Medical Genetics.2017;[Epub]     CrossRef
Original Articles
The MMSE and MoCA for Screening Cognitive Impairment in Less Educated Patients with Parkinson’s Disease
Ji In Kim, Mun Kyung Sunwoo, Young H. Sohn, Phil Hyu Lee, Jin Y. Hong
J Mov Disord. 2016;9(3):152-159.   Published online September 21, 2016
DOI: https://doi.org/10.14802/jmd.16020
  • 17,231 View
  • 361 Download
  • 29 Citations
AbstractAbstract PDF
Objective
To explore whether the Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) can be used to screen for dementia or mild cognitive impairment (MCI) in less educated patients with Parkinson’s disease (PD).
Methods
We reviewed the medical records of PD patients who had taken the Korean MMSE (K-MMSE), Korean MoCA (K-MoCA), and comprehensive neuropsychological tests. Predictive values of the K-MMSE and K-MoCA for dementia or MCI were analyzed in groups divided by educational level.
Results
The discriminative powers of the K-MMSE and K-MoCA were excellent [area under the curve (AUC) 0.86–0.97] for detecting dementia but not for detecting MCI (AUC 0.64–0.85). The optimal screening cutoff values of both tests increased with educational level for dementia (K-MMSE < 15 for illiterate, < 20 for 0.5–3 years of education, < 23 for 4–6 years, < 25 for 7–9 years, and < 26 for 10 years or more; K-MoCA < 7 for illiterate, < 13 for 0.5–3 years, < 16 for 4–6 years, < 19 for 7–9 years, < 20 for 10 years or more) and MCI (K-MMSE < 19 for illiterate, < 26 for 0.5–3 years, < 27 for 4–6 years, < 28 for 7–9 years, and < 29 for 10 years or more; K-MoCA < 13 for illiterate, < 21 for 0.5–3 years, < 23 for 4–6 years, < 25 for 7–9 years, < 26 for 10 years or more).
Conclusion
Both MMSE and MoCA can be used to screen for dementia in patients with PD, regardless of educational level; however, neither test is sufficient to discriminate MCI from normal cognition without additional information.

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Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans
Jae-Hyeok Lee, Jongkyu Park, Ho-Sung Ryu, Hyeyoung Park, Young Eun Kim, Jin Yong Hong, Sang Ook Nam, Young-Hee Sung, Seung-Hwan Lee, Jee-Young Lee, Myung Jun Lee, Tae-Hyoung Kim, Chul Hyoung Lyoo, Sun Ju Chung, Seong Beom Koh, Phil Hyu Lee, Jin Whan Cho, Mee Young Park, Yun Joong Kim, Young H. Sohn, Beom Seok Jeon, Myung Sik Lee
J Mov Disord. 2016;9(1):20-27.   Published online January 25, 2016
DOI: https://doi.org/10.14802/jmd.15058
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AbstractAbstract PDFSupplementary Material
Objective
Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea.
Methods
We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN).
Results
Four subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN.
Conclusions
We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.

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Gender Differences in Age-Related Striatal Dopamine Depletion in Parkinson’s Disease
Jae Jung Lee, Jee Hyun Ham, Phil Hyu Lee, Young H. Sohn
J Mov Disord. 2015;8(3):130-135.   Published online September 10, 2015
DOI: https://doi.org/10.14802/jmd.15031
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AbstractAbstract PDFSupplementary Material
Objective Gender differences are a well-known clinical characteristic of Parkinson’s disease (PD). In-vivo imaging studies demonstrated that women have greater striatal dopamine transporter (DAT) activity than do men, both in the normal population and in PD patients. We hypothesize that women exhibit more rapid aging-related striatal DAT reduction than do men, as the potential neuroprotective effect of estrogen wanes with age.
Methods This study included 307 de novo PD patients (152 men and 155 women) who underwent DAT scans for an initial diagnostic work-up. Gender differences in age-related DAT decline were assessed in striatal sub-regions using linear regression analysis.
Results Female patients exhibited greater DAT activity compared with male patients in all striatal sub-regions. The linear regression analysis revealed that age-related DAT decline was greater in the anterior and posterior caudate, and the anterior putamen in women compared with men; we did not observe this difference in other sub-regions.
Conclusions This study demonstrated the presence of gender differences in age-related DAT decline in striatal sub-regions, particularly in the antero-dorsal striatum, in patients with PD, presumably due to aging-related decrease in estrogen. Because this difference was not observed in the sensorimotor striatum, this finding also suggests that women may not have a greater capacity to tolerate PD pathogenesis than do men.

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Apathy and Olfactory Dysfunction in Early Parkinson’s Disease
Jin Yong Hong, Mun Kyung Sunwoo, Jee Hyun Ham, Jae Jung Lee, Phil Hyu Lee, Young H. Sohn
J Mov Disord. 2015;8(1):21-25.   Published online January 31, 2015
DOI: https://doi.org/10.14802/jmd.14029
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AbstractAbstract PDF
Objective Olfactory and emotional dysfunctions are very common in patients with Parkinson’s disease (PD). Olfaction and emotions share common neuroanatomical substrates. Therefore, in this study, we evaluated the association between olfactory and emotional dysfunctions in patients with PD.
Methods Parkinson’s disease patients who had been assessed for their olfactory function and neuropsychiatric symptoms including emotional dysfunction were included. A logistic regression analysis was performed to evaluate the association between low olfaction and different neuropsychiatric symptoms.
Results The patients with low olfaction (cross cultural smell identification test score ≤ 6) showed a higher prevalence of apathy when compared with those with high olfaction, whereas the frequencies of other neuropsychiatric symptoms were comparable between the two groups. A multivariate logistic regression analysis revealed that the presence of apathy/indifference [odds ratio (OR) = 2.859, p = 0.007], age 70 years or more (OR = 2.281, p = 0.009), and the male gender (OR = 1.916, p = 0.030) were significantly associated with low olfaction.
Conclusions Our results demonstrate that apathy/indifference is a unique emotional dysfunction associated with olfactory dysfunction in PD. The findings also suggest that PD patients with low olfaction have a high prevalence of apathy.

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Case Report
Chorea as an Initial Manifestation of Polycythemia Vera
Ji Eun Lee, Hae-Won Shin, Young H. Sohn
J Mov Disord. 2008;1(2):82-85.
DOI: https://doi.org/10.14802/jmd.08015
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AbstractAbstract PDF

Chorea is a rare complication of polycythemia vera (PV). We report a 58-year-old woman with acute onset chorea without structural lesion in the basal ganglia. The physical and laboratory findings were compatible with the diagnosis of PV. After repeated phlebotomies her chorea was improved. PV should be considered as one of the possible etiologies of chorea, as early diagnosis is important to lead to the effective treatment and prevention of complications.


JMD : Journal of Movement Disorders