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Original Article
Caregiver Burden of Patients With Huntington’s Disease in South Korea
Chan Young Lee, Chaewon Shin, Yun Su Hwang, Eungseok Oh, Manho Kim, Hyun Sook Kim, Sun Ju Chung, Young Hee Sung, Won Tae Yoon, Jin Whan Cho, Jae-Hyeok Lee, Han-Joon Kim, Hee Jin Chang, Beomseok Jeon, Kyung Ah Woo, Seong-Beom Koh, Kyum-Yil Kwon, Jangsup Moon, Young Eun Kim, Jee-Young Lee
J Mov Disord. 2024;17(1):30-37.   Published online September 11, 2023
DOI: https://doi.org/10.14802/jmd.23134
Funded: Seoul National University
  • 1,061 View
  • 102 Download
AbstractAbstract PDFSupplementary Material
Objective
This is the first prospective cohort study of Huntington’s disease (HD) in Korea. This study aimed to investigate the caregiver burden in relation to the characteristics of patients and caregivers.
Methods
From August 2020 to February 2022, we enrolled patients with HD from 13 university hospitals in Korea. We used the 12-item Zarit Burden Interview (ZBI-12) to evaluate the caregiver burden. We evaluated the clinical associations of the ZBI-12 scores by linear regression analysis and investigated the differences between the low- and high-burden groups.
Results
Sixty-five patients with HD and 45 caregivers were enrolled in this cohort study. The average age at onset of motor symptoms was 49.3 ± 12.3 years, with an average cytosine-adenine-guanine (CAG)n of 42.9 ± 4.0 (38–65). The median ZBI-12 score among our caregivers was 17.6 ± 14.2. A higher caregiver burden was associated with a more severe Shoulson–Fahn stage (p = 0.038) of the patients. A higher ZBI-12 score was also associated with lower independence scale (B = -0.154, p = 0.006) and functional capacity (B = -1.082, p = 0.002) scores of patients. The caregiving duration was longer in the high- than in the low-burden group. Caregivers’ demographics, blood relation, and marital and social status did not affect the burden significantly.
Conclusion
HD patients’ neurological status exerts an enormous impact on the caregiver burden regardless of the demographic or social status of the caregiver. This study emphasizes the need to establish an optimal support system for families dealing with HD in Korea. A future longitudinal analysis could help us understand how disease progression aggravates the caregiver burden throughout the entire disease course.
Letter to the editor
Factors associated with anticholinergic-induced oral-buccal-lingual dyskinesia in Parkinson’s disease
Joonyoung Ha, Suk Yun Kang, Kyoungwon Baik, Young H. Sohn, Phil Hyu Lee, Min Seok Baek, Jin Yong Hong
J Mov Disord. 2024;17(1):109-111.   Published online September 22, 2023
DOI: https://doi.org/10.14802/jmd.23069
Funded: National Research Foundation of Korea, Ministry of SMEs and Startups, Ministry of Trade, Industry and Energy
  • 473 View
  • 56 Download
PDFSupplementary Material
Original Articles
Retinal Thinning as a Marker of Disease Severity in Progressive Supranuclear Palsy
Yueting Chen, Haotian Wang, Bo Wang, Wenbo Li, Panpan Ye, Wen Xu, Peng Liu, Xinhui Chen, Zhidong Cen, Zhiyuan Ouyang, Sheng Wu, Xiaofeng Dou, Yi Liao, Hong Zhang, Mei Tian, Wei Luo
J Mov Disord. 2024;17(1):55-63.   Published online September 26, 2023
DOI: https://doi.org/10.14802/jmd.23102
Funded: Science and Technology Department of Zhejiang Province, Zhejiang Province
  • 814 View
  • 128 Download
AbstractAbstract PDFSupplementary Material
Objective
Progressive supranuclear palsy (PSP) involves a variety of visual symptoms that are thought to be partially caused by structural abnormalities of the retina. However, the relationship between retinal structural changes, disease severity, and intracranial alterations remains unknown. We investigated distinct retinal thinning patterns and their relationship with clinical severity and intracranial alterations in a PSP cohort.
Methods
We enrolled 19 patients with PSP (38 eyes) and 20 age-matched healthy controls (40 eyes). All of the participants underwent peripapillary and macular optical coherence tomography. Brain 11C-2β-carbomethoxy-3β-(4-fluorophenyl) tropane (11C-CFT) and 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography imaging were also performed in patients with PSP. We investigated the association between retinal thickness changes and clinical features, striatal dopamine transporter availability, and cerebral glucose metabolism.
Results
The peripapillary retinal nerve fiber layer (pRNFL) and macula were significantly thinner in patients with PSP than in controls. The thickness of the superior sector of the pRNFL demonstrated a significant negative relationship with the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale part III and Hoehn and Yahr staging scale scores. A significant negative correlation was found between outer inferior macular thickness and disease duration. Outer temporal macular thickness was positively correlated with Montreal Cognitive Assessment scores. In PSP, lower outer temporal macular thickness was also positively correlated with decreased dopamine transporter binding in the caudate.
Conclusion
The pRNFL and macular thinning may be candidate markers for monitoring disease severity. Additionally, macular thinning may be an in vivo indicator of nigrostriatal dopaminergic cell degeneration 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
Funded: Korea Health Industry Development Institute, Ministry of Health and Welfare, National Research Foundation of Korea
  • 651 View
  • 74 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.
Letter to the editor
A Case of Task-Specific Tremor of the Hand While Driving
Minkyeong Kim, Eunji Kim, Seok Min Moon, Juhyeon Kim, Heeyoung Kang
J Mov Disord. 2024;17(1):112-114.   Published online October 12, 2023
DOI: https://doi.org/10.14802/jmd.23175
Funded: National Research Foundation of Korea, Ministry of Science and ICT
  • 381 View
  • 29 Download
PDFSupplementary Material
Case Report
A New Phenotype of TUBB4A Mutation in a Family With Adult-Onset Progressive Spastic Paraplegia and Isolated Hypomyelination Leukodystrophy: A Case Report and Literature Review
Pei‐Chen Hsieh, Pei Shan Yu, Wen-Lang Fan, Chun‐Chieh Wang, Chih-Ying Chao, Yih‐Ru Wu
J Mov Disord. 2024;17(1):94-98.   Published online October 23, 2023
DOI: https://doi.org/10.14802/jmd.23142
Funded: Ministry of Science and Technology, Taiwan, Chang Gung Memorial Hospital
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  • 73 Download
AbstractAbstract PDFSupplementary Material
Tubulin beta 4A class IVa (TUBB4A) spectrum disorders include autosomal dominant dystonia type 4 or hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome). However, in rare cases, only mild hypomyelination in the cortex with no basal ganglia atrophy may be observed. We report a case of a family with TUBB4A mutation and complicated hereditary spasticity paraplegia (HSP). We performed quadro whole-exome sequencing (WES) on the family to identify the causative gene of progressive spastic paraparesis with isolated hypomyelination leukodystrophy. We identified a novel TUBB4A p.F341L mutation, which was present in all three affected patients but absent in the unaffected father. The affected patients presented with adult-onset TUBB4A disorder, predominant spastic paraparesis with/without ataxia, and brain hypomyelination with no cognitive impairment or extrapyramidal symptoms. In the literature, HSP is considered a TUBB4A spectrum disorder.
Original Article
Parkinson’s Disease, Impulsive-Compulsive Behaviors, and Health-Related Quality of Life
Marie Grall-Bronnec, Audrey Verholleman, Caroline Victorri-Vigneau, Juliette Leboucher, Elsa Thiabaud, Jean-Benoit Hardouin, Benoit Schreck, Tiphaine Rouaud, Monica Roy, Pascal Derkinderen, Gaëlle Challet-Bouju
J Mov Disord. 2024;17(1):82-88.   Published online November 6, 2023
DOI: https://doi.org/10.14802/jmd.23042
Funded: French National Research Agency, Nantes University Hospital
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  • 51 Download
AbstractAbstract PDFSupplementary Material
Objective
A large body of literature has examined the links between the use of dopamine replacement therapy (DRT) in Parkinson’s disease (PD) and the development of “impulsive-compulsive behaviors (ICBs).” Little is known regarding the link between the development of ICBs and health-related quality of life (HRQOL). We aimed to explore the factors that are associated with poorer HRQOL, especially in relation to DRT-induced ICBs, in a sample of PD patients.
Methods
This PARKADD (PARK: PARKinson’s disease; ADD: behavioral ADDictions) study was a prospective case‒control study initially designed to assess the factors associated with ICBs in PD patients. A prospective clinical follow-up was added, aiming to capture the long-term evolution of HRQOL in relation to ICBs occurring or worsening after the beginning of PD. We focused on sociodemographic and PD characteristics and the history or presence of ICBs. HRQOL was measured using the Parkinson’s Disease Questionnaire-8. A multivariate linear regression was performed to identify factors related to poorer HRQOL.
Results
A total of 169 patients were eligible for the follow-up study. The presence of an ICB, a higher levodopa equivalent daily dose (LEDD) and a longer PD duration were significantly associated with poorer HRQOL, with an interaction between LEDD and PD duration.
Conclusion
The presence of an ICB was related to poorer HRQOL and should be considered a crucial factor for the management of PD patients. Several studies were recently published that provide guidelines for the management of these patients, with recommendations based on two key principles: prevention and specific treatment.
Review Articles
Fighting Against the Clock: Circadian Disruption and Parkinson’s Disease
Yen-Chung Chen, Wei-Sheng Wang, Simon J G Lewis, Shey-Lin Wu
J Mov Disord. 2024;17(1):1-14.   Published online November 21, 2023
DOI: https://doi.org/10.14802/jmd.23216
Funded: NHMRC Leadership Fellowship
  • 878 View
  • 76 Download
AbstractAbstract PDF
Circadian disruption is being increasingly recognized as a critical factor in the development and progression of Parkinson’s disease (PD). This review aims to provide an in-depth overview of the relationship between circadian disruption and PD by exploring the molecular, cellular, and behavioral aspects of this interaction. This review will include a comprehensive understanding of how the clock gene system and transcription–translation feedback loops function and how they are diminished in PD. The article also discusses the role of clock genes in the regulation of circadian rhythms, as well as the impact of clock gene dysregulation on mitochondrial function, oxidative stress, and neuroinflammation, including the microbiota-gut-brain axis, which have all been proposed as being crucial mechanisms in the pathophysiology of PD. Finally, this review highlights potential therapeutic strategies targeting the clock gene system and circadian rhythm for the treatment of PD.
Ultrastructures of α-Synuclein Filaments in Synucleinopathy Brains and Experimental Models
Airi Tarutani, Masato Hasegawa
J Mov Disord. 2024;17(1):15-29.   Published online November 22, 2023
DOI: https://doi.org/10.14802/jmd.23213
Funded: Japan Science and Technology Agency, Japan Agency for Medical Research and Development, JSPS KAKENHI
  • 793 View
  • 91 Download
AbstractAbstract PDF
Intracellular α-synuclein (α-syn) inclusions are a neuropathological hallmark of Lewy body disease (LBD) and multiple system atrophy (MSA), both of which are termed synucleinopathies. LBD is defined by Lewy bodies and Lewy neurites in neurons, while MSA displays glial cytoplasmic inclusions in oligodendrocytes. Pathological α-syn adopts an ordered filamentous structure with a 5–10 nm filament diameter, and this conformational change has been suggested to be involved in the disease onset and progression. Synucleinopathies also exhibit characteristic ultrastructural and biochemical properties of α-syn filaments, and α-syn strains with distinct conformations have been identified. Numerous experimental studies have supported the idea that pathological α-syn self-amplifies and spreads throughout the brain, during which processes the conformation of α-syn filaments may drive the disease specificity. In this review, we summarize the ultrastructural features and heterogeneity of α-syn filaments in the brains of patients with synucleinopathy and in experimental models of seeded α-syn aggregation.
Letters to the editor
Clinical and Genetic Features of Huntington’s Disease Patients From Republic of Serbia: A Single-Center Experience
Nikola Kresojević, Ivana Perović, Iva Stanković, Aleksandra Tomić, Milica Jecˇmenica Lukic´, Vladana Marković, Tanja Stojković, Gorana Mandić, Milena Janković, Ana Marjanović, Marija Branković, Ivana Novaković, Igor Petrović, Nataša Dragašević, Elka Stefanova, Marina Svetel, Vladimir Kostić
J Mov Disord. 2023;16(3):333-335.   Published online June 9, 2023
DOI: https://doi.org/10.14802/jmd.23028
Funded: Ministry of Education (Serbia), Science of the Republic of Serbia
  • 911 View
  • 66 Download
PDF
Pallidal Deep Brain Stimulation for Refractory Celiac-Related Myoclonus
Jinyoung Youn, Elizabeth Slow, Robert Chen, Andres M. Lozano, Alfonso Fasano
J Mov Disord. 2023;16(3):325-327.   Published online June 9, 2023
DOI: https://doi.org/10.14802/jmd.23006
Funded: University of Toronto, University Health Network
  • 984 View
  • 60 Download
PDFSupplementary Material
Review Article
GBA1 Variants and Parkinson’s Disease: Paving the Way for Targeted Therapy
Young Eun Huh, Tatiana Usnich, Clemens R. Scherzer, Christine Klein, Sun Ju Chung
J Mov Disord. 2023;16(3):261-278.   Published online June 12, 2023
DOI: https://doi.org/10.14802/jmd.23023
Funded: National Research Foundation of Korea, Ministry of Science and ICT, Asan Institute for Life Sciences, Asan Medical Center
  • 2,101 View
  • 279 Download
  • 1 Crossref
AbstractAbstract PDF
Glucosylceramidase beta 1 (GBA1) variants have attracted enormous attention as the most promising and important genetic candidates for precision medicine in Parkinson’s disease (PD). A substantial correlation between GBA1 genotypes and PD phenotypes could inform the prediction of disease progression and promote the development of a preventive intervention for individuals at a higher risk of a worse disease prognosis. Moreover, the GBA1-regulated pathway provides new perspectives on the pathogenesis of PD, such as dysregulated sphingolipid metabolism, impaired protein quality control, and disrupted endoplasmic reticulum-Golgi trafficking. These perspectives have led to the development of novel disease-modifying therapies for PD targeting the GBA1-regulated pathway by repositioning treatment strategies for Gaucher’s disease. This review summarizes the current hypotheses on a mechanistic link between GBA1 variants and PD and possible therapeutic options for modulating GBA1-regulated pathways in PD patients.

Citations

Citations to this article as recorded by  
  • A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-In Murine Models of Gaucher Disease
    Makaila L. Furderer, Bahafta Berhe, Tiffany C. Chen, Stephen Wincovitch, Xuntian Jiang, Nahid Tayebi, Ellen Sidransky, Tae-Un Han
    International Journal of Molecular Sciences.2024; 25(3): 1827.     CrossRef
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
Funded: National Human Genome Research Institute, National Institutes of Health
  • 1,419 View
  • 89 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.
Original Article
KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort
Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Neeharika Sriram, Jitender Saini, Ravi Yadav, Akhilesh Pandey, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
J Mov Disord. 2023;16(3):285-294.   Published online June 13, 2023
DOI: https://doi.org/10.14802/jmd.23035
Funded: National Institute of Mental Health, Indian Council for Medical Research Fund
  • 2,088 View
  • 154 Download
  • 1 Crossref
AbstractAbstract PDFSupplementary Material
Objective
aaMutations in the KMT2B gene have been identified in patients previously diagnosed with idiopathic dystonia. Literature on KMT2B-related dystonia is sparse in the Indian and Asian populations.
Methods
aaWe report seven patients with KMT2B-related dystonia studied prospectively from May 2021 to September 2022. Patients underwent deep clinical phenotyping and genetic testing by whole-exome sequencing (WES). A systematic literature search was performed to identify the spectrum of previously published KMT2B-related disorders in the Asian subcontinent.
Results
aaThe seven identified patients with KMT2B-related dystonia had a median age at onset of four years. The majority experienced onset in the lower limbs (n = 5, 71.4%), with generalization at a median duration of 2 years. All patients except one had complex phenotypes manifesting as facial dysmorphism (n = 4), microcephaly (n = 3), developmental delay (n = 3), and short stature (n = 1). Magnetic resonance imaging (MRI) abnormalities were present in four cases. WES revealed novel mutations in the KMT2B gene in all patients except one. Compared to the largest cohort of patients with KMT2B-related disorders, the Asian cohort, comprising 42 patients, had a lower prevalence of female patients, facial dysmorphism, microcephaly, intellectual disability, and MRI abnormalities. Protein-truncating variants were more prevalent than missense variants. While microcephaly and short stature were more common in patients with missense mutations, facial dysmorphism was more common in patients with truncating variants. Deep brain stimulation, performed in 17 patients, had satisfactory outcomes.
Conclusion
aaThis is the largest series of patients with KMT2B-related disorders from India, further expanding the clinico-genotypic spectrum. The extended Asian cohort emphasizes the unique attributes of this part of the world.

Citations

Citations to this article as recorded by  
  • Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India
    Debjyoti Dhar, Vikram V. Holla, Riyanka Kumari, Ravi Yadav, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
    Parkinsonism & Related Disorders.2024; : 105986.     CrossRef
Viewpoint
From Evidence to the Dish: A Viewpoint of Implementing a Thai-Style Mediterranean Diet for Parkinson’s Disease
Onanong Phokaewvarangkul, Nitinan Kantachadvanich, Vijittra Buranasrikul, Appasone Phoumindr, Saisamorn Phumphid, Priya Jagota, Roongroj Bhidayasiri
J Mov Disord. 2023;16(3):279-284.   Published online June 19, 2023
DOI: https://doi.org/10.14802/jmd.23021
Funded: Thailand Science Research and Innovation, Chulalongkorn University
  • 1,252 View
  • 101 Download
  • 1 Crossref
PDFSupplementary Material

Citations

Citations to this article as recorded by  
  • Old problems, new solutions: harnessing technology and innovation in Parkinson’s disease—evidence and experiences from Thailand
    Roongroj Bhidayasiri
    Journal of Neural Transmission.2024;[Epub]     CrossRef

JMD : Journal of Movement Disorders