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Original Articles
Phenotypic spectrum of Progressive Supranuclear Palsy: Clinical study and APOE effect
Amina NASRI, Ikram SGHAIER, Anis NEJI, Alya GHARBI, Youssef ABIDA, Saloua MRABET, Amina GARGOURI, Mouna BEN DJEBARA, Imen KACEM, Riadh GOUIDER
Received September 9, 2023  Accepted January 30, 2024  Published online January 30, 2024  
DOI: https://doi.org/10.14802/jmd.23178    [Accepted]
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  • 31 Download
AbstractAbstract PDF
Objectives
Progressive supranuclear palsy (PSP)is a rare neurodegenerative disorder encompassing several phenotypes with various motor and cognitive deficits.We aimed to study motor and cognitive characteristics across PSP phenotypes,and assess the influence of the Apolipoprotein E (APOE)gene variants on PSP phenotypic expression.
Materials and Methods
In 20-year-cross-sectional study, we retrospectively reviewed the charts of all patients classified as PSP and re-categorized them into phenotypes using the MDS-2017 criteria. Phenotypes were divided into three subgroups based on the clinical presentation during the first 3 years after symptoms’ onset, which defines the early disease stage:Richardson’s syndrome (PSP-RS), PSP-cortical (PSP-F+PSP-SL+PSP-CBS) and PSP-subcortical(PSP-P+PSP-PGF+PSP-PI+PSP-OM+PSP-C+PSP-PLS).Data on clinical and neuropsychological assessments were collected.Genotyping of APOE was performed using the RFLP-PCR and verified by Sanger sequencing.
Results
We included 112 PSP patients comprising 10 phenotypes classified into 48PSP-RS, 34PSP-cortical(17.6%PSP-CBS,9.4%PSP-F,8.2%PSP-SL)and 30 PSP-subcortical(11.6%PSP-P,8%PSP-PI, 2.6%PSP-OM,1.8%PSP-PGF,1.8%PSP-C,0.9%PSP-PLS) subgroups. PSP-RS cases had older age of onset(p=0.009)and more akinetic-rigid and levodopa resistant parkinsonism(p=0.006),while PSP-cortical cases had more tremor and asymmetric and/or levodopa responsive parkinsonism(p=0.025).Cognitive domains were significantly less altered among PSP-subcortical subgroup.Overall,PSP-APOEε4 carriers developed parkinsonism earlier (p=0.019),had earlier oculomotor dysfunction(p=0.052) and more altered cognitive profile.It was also associated with younger age of parkinsonism onset in PSP-RS phenotype(p=0.026).
Conclusion
This study demonstrated the wide phenotypic spectrum of PSP among Tunisians.Later disease onset and akinetic-rigid and levodopa resistant parkinsonism were the hallmarks of PSP-RS phenotype,while milder cognitive impairment was characteristic of PSP-subcortical subgroup.APOEε4 allele was associated to earlier parkinsonism and oculomotor dysfunction and seemed to play a role in defining a more altered cognitive profile in PSP patients.
Comparative Olfactory Profiles in Parkinson’s Disease and Drug-Induced Parkinsonism
In Hee Kwak, Young Eun Kim, Suk Yun Kang, Joong Seob Lee, Jeongjae Lee, Min Seung Kim, Dong A Yea, Hyeo-il Ma
J Mov Disord. 2024;17(1):64-70.   Published online October 6, 2023
DOI: https://doi.org/10.14802/jmd.23105
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  • 75 Download
AbstractAbstract PDFSupplementary Material
Objective
Drug-induced parkinsonism (DIP) is a frequently encountered diagnostic possibility when considering Parkinson’s disease (PD). While olfactory dysfunction is a common clinical feature in PD, the comparison of olfactory function between the two conditions remains insufficient. This study aimed to compare olfactory function, including threshold, discrimination, and identification (TDI) profiles, between PD and DIP.
Methods
Consecutive patients with drug-naïve PD (n = 78) or DIP (n = 31) confirmed through dopamine transporter imaging were enrolled in this study. The YSK olfactory function (YOF) test, composed of TDI domains culturally familiar odorants to Koreans, was administered to all patients.
Results
In the study population, patients with DIP were significantly older than patients with PD. Over 70% of patients in each group had hyposmia or anosmia, and there was no significant difference in the occurrence of olfactory dysfunction between the two groups. In addition, there were no differences in the total YOF score and threshold score between the two groups. Meanwhile, the PD group had a significantly lower discrimination and identification score than the DIP group after adjusting for age, sex, the existence of diabetes, disease duration, and cognitive function.
Conclusion
This study demonstrated that detailed olfactory profiles are different in PD and DIP, even though olfactory dysfunction can be observed in both conditions.
Case Report
Rapid-Onset Dystonia and Parkinsonism in a Patient With Gaucher Disease
Ellen Hertz, Grisel Lopez, Jens Lichtenberg, Dietrich Haubenberger, Nahid Tayebi, Mark Hallett, Ellen Sidransky
J Mov Disord. 2023;16(3):321-324.   Published online June 13, 2023
DOI: https://doi.org/10.14802/jmd.23074
  • 1,458 View
  • 92 Download
AbstractAbstract PDFSupplementary Material
Biallelic mutations in GBA1 cause the lysosomal storage disorder Gaucher disease, and carriers of GBA1 variants have an increased risk of Parkinson’s disease (PD). It is still unknown whether GBA1 variants are also associated with other movement disorders. We present the case of a woman with type 1 Gaucher disease who developed acute dystonia and parkinsonism at 35 years of age during a recombinant enzyme infusion treatment. She developed severe dystonia in all extremities and a bilateral pill-rolling tremor that did not respond to levodopa treatment. Despite the abrupt onset of symptoms, neither Sanger nor whole genome sequencing revealed pathogenic variants in ATP1A3 associated with rapid-onset dystonia-parkinsonism (RDP). Further examination showed hyposmia and presynaptic dopaminergic deficits in [18F]-DOPA PET, which are commonly seen in PD but not in RDP. This case extends the spectrum of movement disorders reported in patients with GBA1 mutations, suggesting an intertwined phenotype.
Review Articles
Adult-Onset Genetic Leukoencephalopathies With Movement Disorders
Mu-Hui Fu, Yung-Yee Chang
J Mov Disord. 2023;16(2):115-132.   Published online March 7, 2023
DOI: https://doi.org/10.14802/jmd.22127
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  • 317 Download
  • 1 Comments
AbstractAbstract PDF
Genetic leukoencephalopathies (GLEs) are a group of white matter abnormalities with heterogeneous radiological and phenotypic features. Although these conditions have mostly been described in children, adult-onset cases are increasingly recognized owing to the widespread use of neuroimaging and advances in molecular genetic testing. The disease course is often progressive with a varied spectrum of presentations, trapping neurologists in the dilemma of differential diagnosis. Movement disorders are among the most common symptoms, and their diversity makes diagnosis challenging. In this review, we focus on adult-onset GLEs with movement disorders and offer a step-by-step diagnostic approach by clarifying the phenomenology of movement, advising investigations for acquired causes, describing the clinical and radiological clues to each disease, emphasizing the limitations of advanced molecular testing, and discussing the future application of artificial intelligence. We provide a list summarizing the leukoencephalopathies associated with different categories of movement disorders. In addition to guiding clinicians on how to narrow the list of differential diagnoses with the tools currently available, another aim of this review is to emphasize the inevitable trend toward applying advanced technology in diagnosing these difficult diseases.
Movement Disorders Associated With Radiotherapy and Surgical Procedures
Bharath Kumar Surisetti, Shweta Prasad, Vikram Venkappayya Holla, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
J Mov Disord. 2023;16(1):42-51.   Published online January 12, 2023
DOI: https://doi.org/10.14802/jmd.22092
  • 2,059 View
  • 135 Download
  • 1 Web of Science
  • 1 Crossref
AbstractAbstract PDF
Occasionally, movement disorders can occur following interventional procedures including but not limited to radiotherapy, dental procedures, and cardiac, cerebral and spinal surgeries. The majority of these disorders tend to be unexpected sequelae with variable phenomenology and latency, and they can often be far more disabling than the primary disease for which the procedure was performed. Owing to poor knowledge and awareness of the problem, delays in diagnosing the condition are common, as are misdiagnoses as functional movement disorders. This narrative review discusses the phenomenology, pathophysiology, and potential treatments of various movement disorders caused by interventional procedures such as radiotherapy and neurological and non-neurological surgeries and procedures.

Citations

Citations to this article as recorded by  
  • Biofeedback Endurance Training for Gait Rehabilitation in Parkinson’s Disease: a Non-Randomized Controlled Study
    Olga V. Guseva, Natalia G. Zhukova
    Bulletin of Rehabilitation Medicine.2024; 22(6): 21.     CrossRef
Case Report
Nearly Abolished Dopamine Transporter Uptake in a Patient With a Novel FBXO7 Mutation
Eun Young Kim, Seon Young Kim, Youngduk Seo, Chaewon Shin
J Mov Disord. 2022;15(3):269-272.   Published online July 26, 2022
DOI: https://doi.org/10.14802/jmd.22006
  • 2,162 View
  • 88 Download
  • 2 Web of Science
  • 2 Crossref
AbstractAbstract PDFSupplementary Material
Mutations in the F-box only protein 7 (FBXO7) gene are the cause of autosomal recessive parkinsonian-pyramidal syndrome. Herein, we report a patient with a novel FBXO7 mutation with a unique clinical presentation. A 43-year-old male visited our hospital with complaints of progressing gait disturbance since a generalized tonic clonic seizure. There were no past neurological symptoms or familial disorders. Neurological examination revealed bradykinesia, masked face, stooped posture, parkinsonian gait, and postural instability. The bilateral uptake by dopamine transporters was nearly abolished, as determined by N-(3-[18F]fluoropropyl)- 2β-carbon ethoxy-3β-(4-iodophenyl) nortropane positron emission tomography (18F-FP-CIT PET). Next-generation sequencing revealed a heterozygous c.1066_1069delTCTG (p.Ser356ArgfsTer56) frameshift variant and a heterozygous c.80G>A (p.Arg27His) missense variant of the FBXO7 gene. The patient’s specific clinical features, medication-refractory parkinsonism and seizures further broaden the spectrum of FBXO7 mutations. The nearly abolished dopamine transporter uptake identified by 18F-FP-CIT PET is frequently found in patients with FBXO7 mutations, which is different from the usual rostrocaudal gradient that is observed in patients with Parkinson’s disease.

Citations

Citations to this article as recorded by  
  • Imaging Procedure and Clinical Studies of [18F]FP-CIT PET
    Changhwan Sung, Seung Jun Oh, Jae Seung Kim
    Nuclear Medicine and Molecular Imaging.2024;[Epub]     CrossRef
  • The characteristics of FBXO7 and its role in human diseases
    Yeling Zhong, Jinyun Li, Meng Ye, Xiaofeng Jin
    Gene.2023; 851: 146972.     CrossRef
Brief communication
Movement Disorders Resulting From Bilateral Basal Ganglia Lesions in End-Stage Kidney Disease: A Systematic Review
Kah Hui Yap, Nurul Husna Baharudin, Abdul Halim Abdul Gafor, Rabani Remli, Shen-Yang Lim, Wan Asyraf Wan Zaidi, Shahrul Azmin, Shahizon Azura Mohamed Mukari, Raihanah Abdul Khalid, Norlinah Mohamed Ibrahim
J Mov Disord. 2022;15(3):258-263.   Published online May 26, 2022
DOI: https://doi.org/10.14802/jmd.21185
  • 2,433 View
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AbstractAbstract PDFSupplementary Material
Objective
The basal ganglia (BG) are susceptible to fluctuations in blood urea levels, sometimes resulting in movement disorders. We described patients with end-stage kidney disease (ESKD) presenting with movement disorders associated with bilateral BG lesions on imaging.
Methods
We report four patients and systematically reviewed all published cases of ESKD presenting with movement disorders and bilateral BG lesions (EBSCOhost and Ovid).
Results
Of the 72 patients identified, 55 (76.4%) were on regular dialysis. Parkinsonism was the most common movement disorder (n = 39; 54.2%), followed by chorea (n = 24; 33.3%). Diabetes mellitus (n = 51; 70.8%) and hypertension (n = 16; 22.2%) were the most common risk factors. Forty-three (59.7%) were of Asian ethnicity. Complete clinical resolution was reported in 17 (30.9%) patients, while 38 (69.1%) had incomplete clinical resolution with relapse. Complete radiological resolution occurred in 14 (34.1%) patients.
Conclusion
Movement disorders associated with BG lesions should be recognized as a rare and potentially reversible metabolic movement disorder in patients with ESKD.
Case Report
Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present
Jessica Qiu, Kishore Raj Kumar, Eloise Watson, Kate Ahmad, Carolyn M. Sue, Michael W. Hayes
J Mov Disord. 2021;14(2):157-160.   Published online May 26, 2021
DOI: https://doi.org/10.14802/jmd.20159
  • 5,610 View
  • 155 Download
  • 6 Web of Science
  • 5 Crossref
AbstractAbstract PDFSupplementary Material
The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or deletion. Dystonia has only rarely been reported as an early and prominent manifestation of POLG mutations. We report a case of a 30-year-old male presenting with lower limb dystonia with peripheral neuropathy and demonstrate that the dystonia was levodopa responsive (with video findings). Whole-genome sequencing revealed biallelic variants in the POLG gene: a known pathogenic variant [NM_001126131.2:c.2209G>C (p.Gly737Arg)] and a novel likely pathogenic variant [NM_001126131.2:c.3305A>C (p.Gln1102Pro)]. A genetic diagnosis was made before the appearance of more readily recognizable features of mitochondrial disease, allowing us to avoid invasive tissue biopsies or potentially deleterious treatments, such as sodium valproate. A POLG-related disorder should be suspected in cases of dystonia with peripheral neuropathy, and this diagnosis may have implications for further investigations and management.

Citations

Citations to this article as recorded by  
  • Possible EIF2AK2‐Associated Stress‐Related Neurological Decompensation with Combined Dystonia and Striatal Lesions
    Sophie E. Waller, Hugo Morales‐Briceño, Laura Williams, Shekeeb S. Mohammad, Avi Fellner, Kishore R. Kumar, Michel Tchan, Victor S.C. Fung
    Movement Disorders Clinical Practice.2022; 9(2): 240.     CrossRef
  • Movement disorders and neuropathies: overlaps and mimics in clinical practice
    Francesco Gentile, Alessandro Bertini, Alberto Priori, Tommaso Bocci
    Journal of Neurology.2022; 269(9): 4646.     CrossRef
  • Transgenic Mice for the Translational Study of Neuropathic Pain and Dystonia
    Damiana Scuteri, Kengo Hamamura, Chizuko Watanabe, Paolo Tonin, Giacinto Bagetta, Maria Tiziana Corasaniti
    International Journal of Molecular Sciences.2022; 23(15): 8580.     CrossRef
  • An overview of the pharmacotherapeutics for dystonia: advances over the past decade
    O. Abu-hadid, J. Jimenez-Shahed
    Expert Opinion on Pharmacotherapy.2022; 23(17): 1927.     CrossRef
  • Exploitation of Thermal Sensitivity and Hyperalgesia in a Mouse Model of Dystonia
    Damiana Scuteri, Laura Rombolà, Silvia Natoli, Antonio Pisani, Paola Bonsi, Kengo Hamamura, Giacinto Bagetta, Paolo Tonin, Maria Tiziana Corasaniti
    Life.2021; 11(9): 985.     CrossRef
Review Article
Manganese and Movement Disorders: A Review
Dinkar Kulshreshtha, Jacky Ganguly, Mandar Jog
J Mov Disord. 2021;14(2):93-102.   Published online April 6, 2021
DOI: https://doi.org/10.14802/jmd.20123
  • 9,811 View
  • 497 Download
  • 16 Web of Science
  • 16 Crossref
AbstractAbstract PDF
Scientific and technological advances achieved with industrial expansion have led to an ever-increasing demand for heavy metals. This demand has, in turn, led to increased contamination of soil, water and air with these metals. Chronic exposure to metals may be detrimental not only to occupational workers but also to the nonoccupational population exposed to these metals. Manganese (Mn), a commonly used heavy metal, is an essential cofactor for many enzymatic processes that drive biological functions. However, it is also a potential source of neurotoxicity, particularly in the field of movement disorders. The typical manifestation of Mn overexposure is parkinsonism, which may be difficult to differentiate from the more common idiopathic Parkinson’s disease. In addition to environmental exposure to Mn, other potential etiologies causing hypermanganesemia include systemic health conditions, total parenteral nutrition and genetic mutations causing Mn dyshomeostasis. In this review, we critically analyze Mn and discuss its sources of exposure, pathophysiology and clinical manifestations. We have highlighted the global public health impact of Mn and emphasize that movement disorder specialists should record a detailed social and occupational history to ensure that a toxic etiology is not misdiagnosed as a neurodegenerative disease. In the absence of a definite therapeutic option, early diagnosis and timely institution of preventive measures are the keys to managing its toxic effects.

Citations

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  • Investigation of Heavy Metal Analysis on Medicinal Plants Used for the Treatment of Skin Cancer by Traditional Practitioners in Pretoria
    Oluwaseun Mary Oladeji, Boikanyo Genneyrolter Kopaopa, Liziwe Lizbeth Mugivhisa, Joshua Oluwole Olowoyo
    Biological Trace Element Research.2024; 202(2): 778.     CrossRef
  • The Regulation of ZIP8 by Dietary Manganese in Mice
    Suetmui Yu, Ningning Zhao
    International Journal of Molecular Sciences.2023; 24(6): 5962.     CrossRef
  • Manganese Neurotoxicity as a Stroke Mimic: A Case Report
    Mohiudeen Alikunju, Nafeesathu Misiriyyah , Shaikh Sayeed Iqbal, Maria Khan
    Cureus.2023;[Epub]     CrossRef
  • Associations of ambient manganese exposure with brain gray matter thickness and white matter hyperintensities
    Shinyoung Woo, Young Noh, Sang-Baek Koh, Seung-Koo Lee, Jung il Lee, Ho Hyun Kim, Sun- Young Kim, Jaelim Cho, Changsoo Kim
    Hypertension Research.2023; 46(8): 1870.     CrossRef
  • Manganese overexposure induces Parkinson-like symptoms, altered lipid signature and oxidative stress in C57BL/6 J mouse
    Muxue Lu, Ping Deng, Lingling Yang, Xue Wang, Xiang Mei, Chao Zhou, Mengyan Chen, Zhou Zhou, Huifeng Pi, Lichuan Wu, Zhengping Yu
    Ecotoxicology and Environmental Safety.2023; 263: 115238.     CrossRef
  • The Role of Oxidative Stress in Manganese Neurotoxicity: A Literature Review Focused on Contributions Made by Professor Michael Aschner
    David C. Dorman
    Biomolecules.2023; 13(8): 1176.     CrossRef
  • Small noncoding RNA dysregulation is implicated in manganism in a rat model of methylcyclopentadienyl manganese tricarbonyl-induced unrepaired striatum damage
    Qifeng Zhu, Fan Jiang, Yuanbo Song, Lili Lu, Fajian He, Shuqi Huang, Zhaoying Huang, Jing Yao, Ningning Lei, Jianmin Huang, Shijin Lu
    The Journal of Toxicological Sciences.2023; 48(10): 535.     CrossRef
  • Differentiating Wild and Apiary Honey by Elemental Profiling: a Case Study from Mangroves of Indian Sundarban
    Tanushree Gaine, Praveen Tudu, Somdeep Ghosh, Shouvik Mahanty, Madhurima Bakshi, Nabanita Naskar, Souparna Chakrabarty, Subarna Bhattacharya, Swati Gupta Bhattacharya, Kashinath Bhattacharya, Punarbasu Chaudhuri
    Biological Trace Element Research.2022; 200(10): 4550.     CrossRef
  • Environmental Impact on the Epigenetic Mechanisms Underlying Parkinson’s Disease Pathogenesis: A Narrative Review
    Efthalia Angelopoulou, Yam Nath Paudel, Sokratis G. Papageorgiou, Christina Piperi
    Brain Sciences.2022; 12(2): 175.     CrossRef
  • Ayahuasca as a Decoction Applied to Human: Analytical Methods, Pharmacology and Potential Toxic Effects
    Ľuboš Nižnanský, Žofia Nižnanská, Roman Kuruc, Andrea Szórádová, Ján Šikuta, Anežka Zummerová
    Journal of Clinical Medicine.2022; 11(4): 1147.     CrossRef
  • Can therapeutic plasma exchange be life-saving in life-threatening manganese intoxication?
    Emel Uyar, Esra Gurkas, Aysel Unlusoy Aksu, Serhat Emeksiz, Cigdem Seher Kasapkara, Nadide Basak Gulleroglu, Ikbal Ok Bozkaya, Kader Karlı Oguz
    Transfusion and Apheresis Science.2022; 61(4): 103417.     CrossRef
  • Manganese‐induced parkinsonism responsive to intranasal insulin: A case report
    Mehri Salari, Masoud Etemadifar, Leila Dargahi, Neda Valian, Malihe Rezaee
    Clinical Case Reports.2022;[Epub]     CrossRef
  • The potential convergence of NLRP3 inflammasome, potassium, and dopamine mechanisms in Parkinson’s disease
    Adrianne F. Pike, Ildikò Szabò, Robert Veerhuis, Luigi Bubacco
    npj Parkinson's Disease.2022;[Epub]     CrossRef
  • Effect of Chelation Therapy on a Korean Patient With Brain Manganese Deposition Resulting From a Compound Heterozygous Mutation in the SLC39A14 Gene
    Jae-Hyeok Lee, Jin-Hong Shin
    Journal of Movement Disorders.2022; 15(2): 171.     CrossRef
  • Manganese chloride (MnCl2) induced novel model of Parkinson’s disease in adult Zebrafish; Involvement of oxidative stress, neuroinflammation and apoptosis pathway
    Abhishek.P.R. Nadig, Bader Huwaimel, Ahmed Alobaida, El-Sayed Khafagy, Hadil Faris Alotaibi, Afrasim Moin, Amr Selim Abu Lila, Suman, Sahyadri. M, K.L. Krishna
    Biomedicine & Pharmacotherapy.2022; 155: 113697.     CrossRef
  • Çalışma Yaşamında Manganez Maruz Kalımının Sağlık Etkileri ve Parkinsonizm
    Zehra GÖK METİN, Abdulsamet SANDAL, Ali Naci YILDIZ
    Karaelmas İş Sağlığı ve Güvenliği Dergisi.2021; 5(2): 147.     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
  • 9,593 View
  • 279 Download
  • 21 Web of Science
  • 21 Crossref
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  
  • Estimating motor progression trajectory pursuant to temporal dynamic status of cardiac denervation in Parkinson’s disease
    Sang-Won Yoo, Dong-Woo Ryu, Yoon-Sang Oh, Seunggyun Ha, Chul Hyoung Lyoo, Yuna Kim, Ji-Yeon Yoo, Joong-Seok Kim
    Journal of Neurology.2024;[Epub]     CrossRef
  • Olfactory Dysfunction in Parkinson’s Disease, Its Functional and Neuroanatomical Correlates
    Gabriel Torres-Pasillas, Donají Chi-Castañeda, Porfirio Carrillo-Castilla, Gerardo Marín, María Elena Hernández-Aguilar, Gonzalo Emiliano Aranda-Abreu, Jorge Manzo, Luis I. García
    NeuroSci.2023; 4(2): 134.     CrossRef
  • Impact of deep brain stimulation (DBS) on olfaction in Parkinson's disease: Clinical features and functional hypotheses
    G. Brand, C. Bontempi, L. Jacquot
    Revue Neurologique.2023; 179(9): 947.     CrossRef
  • Sequential change in olfaction and (non) motor symptoms: the difference between anosmia and non-anosmia in Parkinson’s disease
    Ting-Chun Fang, Yu-Shan Tsai, Ming-Hong Chang
    Frontiers in Aging Neuroscience.2023;[Epub]     CrossRef
  • Traumatic brain injury-induced inflammatory changes in the olfactory bulb disrupt neuronal networks leading to olfactory dysfunction
    Xiang Liu, Zhuofan Lei, Dylan Gilhooly, Junyun He, Yun Li, Rodney M. Ritzel, Hui Li, Long-Jun Wu, Shaolin Liu, Junfang Wu
    Brain, Behavior, and Immunity.2023; 114: 22.     CrossRef
  • Serum Biomarkers of Olfactory Identification Deficits in Patients with Parkinson’s Disease
    Fu-Jia Li, Yang-Dan-Yu Li, Xu Liu, Jie Zu, Wei Zhang, Qi-Hua Xiao, Xue-Bin Niu, Li Du, Chen-Chen Cui, Ru-Yu Zhang, Xiao-Qing He, Gui-Yun Cui, Chuan-Ying Xu, Dominic B. Fee
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    Dong-Woo Ryu, Sang-Won Yoo, Ko-Eun Choi, Yoon-Sang Oh, Joong-Seok Kim
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  • UPSIT subitems may predict motor progression in Parkinson’s disease
    Yu-Hsuan Lin, Ting-Chun Fang, Hsin-Bei Lei, Shih-Chi Chiu, Ming-Hong Chang, Yi-Jen Guo
    Frontiers in Neurology.2023;[Epub]     CrossRef
  • 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
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    Fardin Nabizadeh, Fatemeh Sodeifian, Kasra Pirahesh
    Neurological Sciences.2022; 43(8): 4745.     CrossRef
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    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
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Review Articles
Oro-Pharyngeal Dysphagia in Parkinson’s Disease and Related Movement Disorders
Miseon Kwon, Jae-Hong Lee
J Mov Disord. 2019;12(3):152-160.   Published online September 30, 2019
DOI: https://doi.org/10.14802/jmd.19048
  • 40,605 View
  • 1,103 Download
  • 37 Web of Science
  • 37 Crossref
AbstractAbstract PDFSupplementary Material
Oro-pharyngeal dysphagia is a common symptom in patients with Parkinson’s disease (PD) and related disorders, even in their early stage of diseases. Dysphagia in these patients has been underdiagnosed, probably due to poor the self-awareness of the conditions and the underuse of validated tools and objective instruments for assessment. The early detection and intervention of dysphagia are closely related to improving the quality of life and decreasing the mortality rate in these patients. The purpose of this paper is to give an overview of the characteristics of dysphagia, including the epidemiology, pathophysiology, and clinical symptomatology, in patients with PD compared with other parkinsonian disorders and movement disorders. The management of dysphagia and future research directions related to these disorders are also discussed.

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Pseudobulbar Affect in Parkinsonian Disorders: A Review
Mathew Hakimi, Carine W. Maurer
J Mov Disord. 2019;12(1):14-21.   Published online January 30, 2019
DOI: https://doi.org/10.14802/jmd.18051
  • 9,914 View
  • 295 Download
  • 11 Web of Science
  • 11 Crossref
AbstractAbstract PDF
Pseudobulbar affect (PBA) is a neurological symptom of inappropriate and uncontrollable laughter or crying that occurs secondary to a variety of neurological conditions, including parkinsonian disorders. PBA is a socially and emotionally debilitating symptom that has been estimated to affect 3.6% to 42.5% of the population with Parkinson’s disease. While indexing measures and treatment options for PBA have been extensively studied in neurological conditions such as amyotrophic lateral sclerosis and multiple sclerosis, there has been considerably less attention given in the literature to PBA in parkinsonian disorders. The purpose of this review is to discuss the pathophysiology of PBA, its prevalence and impact on quality of life in parkinsonian disorders, and the treatment options currently available. Areas requiring further study, including the development of standardized, cross-culturally validated methods of symptom assessment, and evidence-based studies exploring the efficacy of current treatment options in parkinsonian disorders, are also highlighted.

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Abnormal Eye Movements in Parkinsonism and Movement Disorders
Ileok Jung, Ji-Soo Kim
J Mov Disord. 2019;12(1):1-13.   Published online January 30, 2019
DOI: https://doi.org/10.14802/jmd.18034
  • 16,314 View
  • 854 Download
  • 29 Web of Science
  • 28 Crossref
AbstractAbstract PDFSupplementary Material
Abnormal eye movements are commonly observed in movement disorders. Ocular motility examination should include bedside evaluation and laboratory recording of ocular misalignment, involuntary eye movements, including nystagmus and saccadic intrusions/oscillations, triggered nystagmus, saccades, smooth pursuit (SP), and the vestibulo-ocular reflex. Patients with Parkinson’s disease (PD) mostly show hypometric saccades, especially for the selfpaced saccades, and impaired SP. Early vertical saccadic palsy is characteristic of progressive supranuclear palsy-Richardson’s syndrome. Patients with cortico-basal syndrome typically show a delayed onset of saccades. Downbeat and gaze-evoked nystagmus and hypermetric saccades are characteristic ocular motor findings in ataxic disorders due to cerebellar dysfunction. In this review, we discuss various ocular motor findings in movement disorders, including PD and related disorders, ataxic syndromes, and hyperkinetic movement disorders. Systemic evaluation of the ocular motor functions may provide valuable information for early detection and monitoring of movement disorders, despite an overlap in the abnormal eye movements among different movement disorders.

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Case Report
A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism
Ji-Hyun Choi, Jee-Young Lee, Han-Joon Kim, Beomseok Jeon
J Mov Disord. 2018;11(3):145-148.   Published online September 30, 2018
DOI: https://doi.org/10.14802/jmd.18028
  • 5,640 View
  • 102 Download
  • 1 Web of Science
AbstractAbstract PDF
The current body of literature contains 5 reports of myotonic dystrophy (DM) with parkinsonism: 4 reports of DM type 2 and 1 report of clinically suspected DM type 1. To date, there have been no genetically proven cases of DM type 1 with parkinsonism. Here, we report the first case of genetically proven DM type 1 and parkinsonism that developed ahead of muscle symptoms with bilateral putaminal, presynaptic dopaminergic deficits on imaging. A 54-year-old female patient presented with bradykinesia, axial and bilateral limb rigidity, stooped posture, and hypomimia, which did not respond to levodopa. At age 56, she developed neck flexion weakness. Examination showed bilateral facial weakness, percussion and grip myotonia, and electromyography confirmed myotonic discharges. A genetic study of DM type 1 showed a DMPK mutation. At age 58, gait freezing, postural instability, and frequent falling developed and did not respond to increasing doses of levodopa. At age 59, the patient died from asphyxia.
Review Article
Tau Positron Emission Tomography Imaging in Degenerative Parkinsonisms
Chul Hyoung Lyoo, Hanna Cho, Jae Yong Choi, Young Hoon Ryu, Myung Sik Lee
J Mov Disord. 2018;11(1):1-12.   Published online January 23, 2018
DOI: https://doi.org/10.14802/jmd.17071
  • 11,257 View
  • 423 Download
  • 11 Web of Science
  • 6 Crossref
AbstractAbstract PDF
In recent years, several radiotracers that selectively bind to pathological tau proteins have been developed. Evidence is emerging that binding patterns of in vivo tau positron emission tomography (PET) studies in Alzheimer’s disease (AD) patients closely resemble the distribution patterns of known neurofibrillary tangle pathology, with the extent of tracer binding reflecting the clinical and pathological progression of AD. In Lewy body diseases (LBD), tau PET imaging has clearly revealed cortical tau burden with a distribution pattern distinct from AD and increased cortical binding within the LBD spectrum. In progressive supranuclear palsy, the globus pallidus and midbrain have shown increased binding most prominently. Tau PET patterns in patients with corticobasal syndrome are characterized by asymmetrical uptake in the motor cortex and underlying white matter, as well as in the basal ganglia. Even in the patients with multiple system atrophy, which is basically a synucleinopathy, 18F-flortaucipir, a widely used tau PET tracer, also binds to the atrophic posterior putamen, possibly due to off-target binding. These distinct patterns of tau-selective radiotracer binding in the various degenerative parkinsonisms suggest its utility as a potential imaging biomarker for the differential diagnosis of parkinsonisms.

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JMD : Journal of Movement Disorders