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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
  • 817 View
  • 40 Download
  • 1 Citations
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  
  • 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
  • 1,087 View
  • 56 Download
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
  • 3,740 View
  • 119 Download
  • 5 Citations
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;[Epub]     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
  • 5,891 View
  • 365 Download
  • 9 Citations
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

Citations to this article as recorded by  
  • 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
  • 6,593 View
  • 244 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
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
  • 35,217 View
  • 902 Download
  • 24 Citations
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.

Citations

Citations to this article as recorded by  
  • Progression of Self-Perceived Speech and Swallowing Impairment in Early Stage Parkinson's Disease: Longitudinal Analysis of the Unified Parkinson's Disease Rating Scale
    Christopher R. Watts, Yan Zhang
    Journal of Speech, Language, and Hearing Research.2022; 65(1): 146.     CrossRef
  • Terminal Choking in Parkinson's Disease
    Andrea Ling, Fiona Herbert, Bethany Wright, Edward Richfield
    Journal of Pain and Symptom Management.2022; 63(6): e757.     CrossRef
  • Effects of a tongue training program in Parkinson's disease: Analysis of electrical activity and strength of suprahyoid muscles
    Exequiel Plaza, Angela Ruviaro Busanello-Stella
    Journal of Electromyography and Kinesiology.2022; 63: 102642.     CrossRef
  • Antidepressants Usage and Risk of Pneumonia Among Elderly Patients With the Parkinson's Disease: A Population-Based Case-Control Study
    Wei-Yin Kuo, Kuang-Hua Huang, Yu-Hsiang Kuan, Yu-Chia Chang, Tung-Han Tsai, Chien-Ying Lee
    Frontiers in Medicine.2022;[Epub]     CrossRef
  • Neuropathological Aspects of SARS-CoV-2 Infection: Significance for Both Alzheimer’s and Parkinson’s Disease
    Jaime Silva, Felipe Patricio, Aleidy Patricio-Martínez, Gerardo Santos-López, Lilia Cedillo, Yousef Tizabi, Ilhuicamina Daniel Limón
    Frontiers in Neuroscience.2022;[Epub]     CrossRef
  • Identifying rates and risk factors for medication errors during hospitalization in the Australian Parkinson’s disease population: A 3-year, multi-center study
    Michael Bakker, Michaela E. Johnson, Lauren Corre, Deanna N. Mill, Xingzhuo Li, Richard J. Woodman, Jacinta L. Johnson, Ismaeel Yunusa
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    Sarah Forsberg, Viktoria Olsson, Wender L.P. Bredie, Karin Wendin
    International Journal of Gastronomy and Food Science.2022; 28: 100528.     CrossRef
  • Dysphagia Presentation, Airway Invasion, and Gender Differences in a Clinically Based Sample of People with Parkinson’s Disease
    Matthew Dumican, Christopher Watts, Teresa Drulia, Yan Zhang
    Dysphagia.2022;[Epub]     CrossRef
  • Swallow Safety and Laryngeal Kinematics: A Comparison of Dysphagia Between Parkinson’s Disease and Cerebrovascular Accident
    Matthew Dumican, Christopher Watts
    Journal of Parkinson's Disease.2022; : 1.     CrossRef
  • Swallow Safety and Laryngeal Kinematics: A Comparison of Dysphagia Between Parkinson’s Disease and Cerebrovascular Accident
    Matthew Dumican, Christopher Watts
    Journal of Parkinson's Disease.2022; 12(7): 2147.     CrossRef
  • The prevalence and associated factors of dysphagia in Parkinson's disease: A systematic review and meta-analysis
    Siyuan Gong, Yan Gao, Jihong Liu, Jia Li, Xueqin Tang, Qian Ran, Rongzhu Tang, Chunlian Liao
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  • Cardiac sympathetic denervation could be associated with dysphagia in Parkinson's disease
    Jinyoung Youn, George Umemoto, Eungseok Oh, Jinse Park, Wooyoung Jang, Yoon-Sang Oh, Hee-Tae Kim, Jin Whan Cho, Shinsuke Fujioka, Yoshio Tsuboi
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    Min Cheol Chang, Jin-Sung Park, Byung Joo Lee, Donghwi Park
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    Kuang-Hua Huang, Chih-Jaan Tai, Yu-Hsiang Kuan, Yu-Chia Chang, Tung-Han Tsai, Chien-Ying Lee
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  • Parkinson Hastalığında Yutma Bozuklukları
    Merve SAPMAZ ATALAR, Gençer GENÇ
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    Matthew Dumican, Christopher Watts
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    Bhavana Patel, Joseph Legacy, Karen W. Hegland, Michael S. Okun, Nicole E. Herndon
    Expert Review of Gastroenterology & Hepatology.2020; 14(6): 411.     CrossRef
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    Vinay Sridhar, Ankit Tiwari, Sarika Wairkar, Girdhari Lal Gupta, Ram Gaud
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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
  • 7,558 View
  • 258 Download
  • 8 Citations
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.

Citations

Citations to this article as recorded by  
  • Pseudobulbar affect in neurodegenerative diseases: A systematic review and meta-analysis
    Fardin Nabizadeh, Mahsa Nikfarjam, Mobin Azami, Hossein Sharifkazemi, Fatemeh Sodeifian
    Journal of Clinical Neuroscience.2022; 100: 100.     CrossRef
  • The relationship between stress, anxiety, and depression levels and pseudobulbar affect in patients with multiple sclerosis
    Duygu Özer, Elvan Emine Ata, Gül Dikeç, Serkan Demir
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    LingYu Zhang, Bei Cao, Qian-Qian Wei, RuWei Ou, Bi Zhao, Jing Yang, Ying Wu, HuiFang Shang
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    Hendrik Lintel, Timothy Corpuz, Saif-ur-Rahman Paracha, George T. Grossberg
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    Ramsey Falconer, David Whitney, Hannah Walters, Sean Rogers
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    Sweta Bhoopatiraju, George Grossberg
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    Manuel Fuentes-Casan
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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
  • 12,222 View
  • 750 Download
  • 20 Citations
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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  • Eye movement abnormalities in neurodegenerative langerhans cell histiocytosis
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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
  • 4,648 View
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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
  • 9,332 View
  • 411 Download
  • 6 Citations
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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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
  • 5,548 View
  • 130 Download
  • 2 Citations
AbstractAbstract PDFSupplementary 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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Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids
Josefine Blume, Robert Weissert
J Mov Disord. 2017;10(1):59-61.   Published online December 27, 2016
DOI: https://doi.org/10.14802/jmd.16050
  • 8,522 View
  • 101 Download
  • 4 Citations
AbstractAbstract PDFSupplementary Material
Early motor symptoms of neurodegenerative diseases often appear in combination with psychiatric symptoms, such as depression or personality changes, and are in danger of being misdiagnosed as psychogenic in young patients. We present the case of a 32-year-old woman who presented with rapid-onset depression, followed by a hypokinetic movement disorder and cognitive decline during pregnancy. Genetic testing revealed a mutation in the colony-stimulating factor 1 receptor gene, which led to the diagnosis of hereditary diffuse leukoencephalopathy with spheroids. Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is probably an under-recognized disease. HDLS should be considered in patients with rapidly progressing parkinsonian symptoms and dementia accompanied by white matter lesions.

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Original Articles
Clinical Features Indicating Nigrostriatal Dopaminergic Degeneration in Drug-Induced Parkinsonism
Seung Ha Lee, Han Kyeol Kim, Young Gun Lee, Chul Hyoung Lyoo, Sung Jun Ahn, Myung Sik Lee
J Mov Disord. 2017;10(1):35-39.   Published online December 27, 2016
DOI: https://doi.org/10.14802/jmd.16045
  • 8,423 View
  • 149 Download
  • 3 Citations
AbstractAbstract PDFSupplementary Material
Objective
Patients with drug-induced parkinsonism (DIP) may have nigrostriatal dopaminergic degeneration. We studied the clinical features that may indicate nigrostriatal dopaminergic degeneration in patients with DIP.
Methods
Forty-one DIP patients were classified into normal and abnormal [18F] FP-CIT scan groups. Differences in 32 clinical features and drug withdrawal effects were studied.
Results
Twenty-eight patients had normal (Group I) and 13 patients had abnormal (Group II) scans. Eight patients of Group I, but none of Group II, had taken calcium channel blockers (p = 0.040). Three patients of Group I and six of Group II had hyposmia (p = 0.018). After drug withdrawal, Group I showed greater improvement in Unified Parkinson’s Disease Rating Scale total motor scores and subscores for bradykinesia and tremors than Group II. Only hyposmia was an independent factor associated with abnormal scans, but it had suboptimal sensitivity.
Conclusion
None of the clinical features were practical indicators of nigrostriatal dopaminergic degeneration in patients with DIP.

Citations

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  • Gait abnormalities and non-motor symptoms predict abnormal dopaminergic imaging in presumed drug-induced Parkinsonism
    Whitley W. Aamodt, Jacob G. Dubroff, Gang Cheng, Betty Taylor, Stephanie Wood, John E. Duda, James F. Morley
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Movement Disorders in Non-Wilsonian Hepatic Cirrhotic Patients: The Subgroup Analysis of Various Phenotypes and Associated Risk Factors
Kulthida Methawasin, Piyanant Chonmaitree, Chatchawan Wongjitrat, Suthee Rattanamongkolgul, Thanin Asawavichienjinda
J Mov Disord. 2016;9(2):104-113.   Published online March 28, 2016
DOI: https://doi.org/10.14802/jmd.15047
  • 17,615 View
  • 82 Download
AbstractAbstract PDF
Objective
The aim of this subgroup analysis was to identify the risk factors associated with the development of various movement disorder phenotypes.
Methods
Eighty-three non-Wilsonian cirrhotic patients with abnormal movements were allocated into the following groups: intention tremor, bradykinesia, Parkinsonism, and abnormal ocular movements. These movement types were considered the primary outcomes as there was a sufficient sample size. Researchers took into consideration the gender, etiologies of cirrhosis, cirrhosis-related complications, hepatic encephalopathy, medical illness, and some neurological deficits as potential factors associated with these movement disorders.
Results
The male gender (p = 0.002) and alcoholic cirrhosis (p = 0.005) were significant factors for the prevalence of intention tremors. In bradykinesia, hepatic encephalopathy was highly statistically significant (p < 0.001), and females more commonly developed bradykinesia (p = 0.04). The Parkinsonism features in this study were confounded by hyperlipidemia (p = 0.04) and motor or sensory deficits (p = 0.02). Jerky pursuits and a horizontal nystagmus were detected. Jerky pursuits were significantly related to hepatic encephalopathy (p = 0.003) and bradykinesia, but there were no factors associated with the prevalence of nystagmus other than an intention tremor.
Conclusions
The association of alcoholic cirrhosis with the development of intention tremor indicates that the persistent cerebellar malfunction in cirrhotic patients is due to alcohol toxicity. The slowness of finger tapping and jerky pursuit eye movements are significantly associated with hepatic encephalopathy. Thus, further studies are needed to evaluate the diagnostic value of these two signs for an early detection of mild hepatic encephalopathy.
Review Article
Clinical Approach to Progressive Supranuclear Palsy
Helen Ling
J Mov Disord. 2016;9(1):3-13.   Published online January 25, 2016
DOI: https://doi.org/10.14802/jmd.15060
  • 31,258 View
  • 1,136 Download
  • 40 Citations
AbstractAbstract PDF
Sixty years ago, Steele, Richardson and Olszewski designated progressive supranuclear palsy (PSP) as a new clinicopathological entity in their seminal paper. Since then, in addition to the classic Richardson’s syndrome (RS), different clinical phenotypic presentations have been linked with this four-repeat tauopathy. The clinical heterogeneity is associated with variability of regional distribution and severity of abnormal tau accumulation and neuronal loss. In PSP subtypes, the presence of certain clinical pointers may be useful for antemortem prediction of the underlying PSP-tau pathology. Midbrain atrophy on conventional MRI correlates with the clinical phenotype of RS but is not predictive of PSP pathology. Cerebrospinal fluid biomarkers and tau ligand positron emission tomography are promising biomarkers of PSP. A multidisciplinary approach to meet the patients’ complex needs is the current core treatment strategy for this devastating disorder.

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    Louise Wiblin, Rory Durcan, Brook Galna, Mark Lee, David Burn
    Journal of Movement Disorders.2019; 12(3): 177.     CrossRef
  • Prediction of the Clinical Severity of Progressive Supranuclear Palsy by Diffusion Tensor Imaging
    Yao-Liang Chen, Xiang-An Zhao, Shu-Hang Ng, Chin-Song Lu, Yu-Chun Lin, Jur-Shan Cheng, Chih-Chien Tsai, Jiun-Jie Wang
    Journal of Clinical Medicine.2019; 9(1): 40.     CrossRef
  • Tauopathy with hippocampal 4-repeat tau immunoreactive spherical inclusions: a report of three cases
    Gabor G. Kovacs, Linda K. Kwong, Murray Grossman, David J. Irwin, Edward B. Lee, John L. Robinson, Eunran Suh, Vivianna M. Van Deerlin, Virginia M. Lee, John Q. Trojanowski
    Brain Pathology.2018; 28(2): 274.     CrossRef
  • A case of spinal anesthesia in a patient with progressive supranuclear palsy
    Momoka Tonan, Moritoki Egi, Nana Furushima, Satoshi Mizobuchi
    JA Clinical Reports.2018;[Epub]     CrossRef
  • Is it Useful to Classify PSP and CBD as Different Disorders? Yes
    Helen Ling, Antonella Macerollo
    Movement Disorders Clinical Practice.2018; 5(2): 145.     CrossRef
  • Difficulties in the diagnosis of four repeats (4R) tauopathic parkinsonian syndromes
    Piotr Alster, Ewa Krzyżanowska, Dariusz Koziorowski, Stanisław Szlufik, Dorota Różański, Joanna Noskowska, Justyna Mianowicz, Adrian Michno, Leszek Królicki, Andrzej Friedman
    Neurologia i Neurochirurgia Polska.2018; 52(4): 459.     CrossRef
  • Neuro-ophthalmology of movement disorders
    Olga Waln, Joseph Jankovic
    Expert Review of Ophthalmology.2018; 13(5): 283.     CrossRef
  • Role of Neuroimaging on Differentiation of Parkinson’s Disease and Its Related Diseases
    Toshihide Ogawa, Shinya Fujii, Keita Kuya, Shin-ichiro Kitao, Yuki Shinohara, Mana Ishibashi, Yoshio Tanabe
    Yonago Acta Medica.2018; 61(3): 145.     CrossRef
  • Gait disorders in adults and the elderly
    Walter Pirker, Regina Katzenschlager
    Wiener klinische Wochenschrift.2017; 129(3-4): 81.     CrossRef
  • Transcranial Magnetic Stimulation for the Assessment of Neurodegenerative Disease
    Steve Vucic, Matthew C. Kiernan
    Neurotherapeutics.2017; 14(1): 91.     CrossRef
  • Advances in progressive supranuclear palsy: new diagnostic criteria, biomarkers, and therapeutic approaches
    Adam L Boxer, Jin-Tai Yu, Lawrence I Golbe, Irene Litvan, Anthony E Lang, Günter U Höglinger
    The Lancet Neurology.2017; 16(7): 552.     CrossRef

JMD : Journal of Movement Disorders