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Letter to the editor
Refractory Myoclonus as a Presentation of Metabolic Stroke in A Child With Cobalamin B Methylmalonic Acidemia After Liver and Kidney Transplant
Valerie Olson, Irene J Chang, J Lawrence Merritt nd, Dararat Mingbunjerdsuk
J Mov Disord. 2022;15(3):281-283.   Published online May 26, 2022
DOI: https://doi.org/10.14802/jmd.21196
Funded: Veterans Affairs Advanced Fellowship Program in Parkinson’s Disease
  • 846 View
  • 135 Download
PDFSupplementary Material
Original Articles
Semiautomated Algorithm for the Diagnosis of Multiple System Atrophy With Predominant Parkinsonism
Woong-Woo Lee, Han-Joon Kim, Hong Ji Lee, Han Byul Kim, Kwang Suk Park, Chul-Ho Sohn, Beomseok Jeon
J Mov Disord. 2022;15(3):232-240.   Published online July 26, 2022
DOI: https://doi.org/10.14802/jmd.21178
Funded: National Research Foundation of Korea, Ministry of Science and ICT
  • 749 View
  • 56 Download
AbstractAbstract PDFSupplementary Material
Objective
Putaminal iron deposition is an important feature that helps differentiate multiple system atrophy with predominant parkinsonism (MSA-p) from Parkinson’s disease (PD). Most previous studies used visual inspection or quantitative methods with manual manipulation to perform this differentiation. We investigated the value of a new semiautomated diagnostic algorithm using 3T-MR susceptibility-weighted imaging for MSA-p.
Methods
This study included 26 MSA-p, 68 PD, and 41 normal control (NC) subjects. The algorithm was developed in 2 steps: 1) determine the image containing the remarkable putaminal margin and 2) calculate the phase-shift values, which reflect the iron concentration. The next step was to identify the best differentiating conditions among several combinations. The highest phaseshift value of each subject was used to assess the most effective diagnostic set.
Results
The raw phase-shift values were present along the lateral margin of the putamen in each group. It demonstrates an anterior- to-posterior gradient that was identified most frequently in MSA-p. The average of anterior 5 phase shift values were used for normalization. The highest area under the receiver operating characteristic curve (0.874, 80.8% sensitivity, and 86.7% specificity) of MSA-p versus PD was obtained under the combination of 3 or 4 vertical pixels and one dominant side when the normalization methods were applied. In the subanalysis for the MSA-p patients with a longer disease duration, the performance of the algorithm improved.
Conclusion
This algorithm detected the putaminal lateral margin well, provided insight into the iron distribution of the putaminal rim of MSA-p, and demonstrated good performance in differentiating MSA-p from PD.
Long-Term Outcomes of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration-Related Dystonia
Kyung Ah Woo, Han-Joon Kim, Seung-Ho Jeon, Hye Ran Park, Kye Won Park, Seung Hyun Lee, Sun Ju Chung, Jong-Hee Chae, Sun Ha Paek, Beomseok Jeon
J Mov Disord. 2022;15(3):241-248.   Published online July 26, 2022
DOI: https://doi.org/10.14802/jmd.22002
Funded: Seoul National University Hospital, Institute of Information and Communications Technology Planning and Evaluation, Forest Hills, HLB Pharmaceutical, Ministry of Health and Welfare, Kuhnil Pharmaceutical, Peptron, Novartis Korea, Ipsen Korea, Samil Pharmaceutical, Abbvie Korea, Seoul National University Hospital, Seoul National University College of Medicine, Korean Brain Research Institute
  • 753 View
  • 64 Download
AbstractAbstract PDFSupplementary Material
Objective
To investigate the long-term clinical outcomes of pallidal deep brain stimulation (GPi-DBS) in patients with pantothenate kinase-associated neurodegeneration (PKAN).
Methods
We reviewed the records of patients with genetically confirmed PKAN who received bilateral GPi-DBS for refractory dystonia and were clinically followed up for at least 2 years postoperatively at two centers in Korea. Pre- and postoperative Burke– Fahn–Marsden Dystonia Rating Scale motor subscale (BFMDRS-M) scores, disability subscale (BFMDRS-D) scores, and qualitative clinical information were prospectively collected. Descriptive analysis was performed for BFMDRS-M scores, BFMDRSD scores, and the orofacial, axial, and limb subscores of the BFMDRS-M at 6–12, 24–36, and 60–72 months postoperatively.
Results
Five classic-type, four atypical-type, and one unknown-type PKAN cases were identified. The mean preoperative BFMDRS-M score was 92.1 for the classic type and 38.5 for the atypical or unknown type, with a mean BFMDRS follow-up of 50.7 months and a clinical follow-up of 69.0 months. The mean improvements in BFMDRS-M score were 11.3%, 41.3%, and 30.5% at 6–12, 24–36, and 60–72 months, respectively. In four patients with full regular evaluations until 60–72 months, improvements in the orofacial, axial, and limb subscores persisted, but the disability scores worsened from 24–36 months post-operation compared to the baseline, mainly owing to the aggravation of eating and feeding disabilities.
Conclusion
The benefits of GPi-DBS on dystonia may persist for more than 5 years in PKAN. The effects on patients’ subjective disability may have a shorter duration despite improvements in dystonia owing to the complex manifestations of PKAN.
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
Funded: Chungnam National University Sejong Hospital
  • 843 View
  • 41 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
Letters to the editor
Continuous 24-h Levodopa-Carbidopa Intestinal Gel Infusion After a Levodopa Holiday Suppressed Refractory Dyskinesia Despite Increasing Levodopa Dose
Noriko Nishikawa, Taku Hatano, Daiki Kamiyama, Haruna Haginiwa-Hasegawa, Genko Oyama, Nobutaka Hattori
J Mov Disord. 2022;15(3):290-292.   Published online July 26, 2022
DOI: https://doi.org/10.14802/jmd.22021
Funded: JSPS KAKENHI
  • 428 View
  • 97 Download
PDFSupplementary Material
Blacksmith’s Dystonia Is Another Task-Specific Dystonia: From Past to Present
Min Seung Kim, Don Gueu Park, Jung Han Yoon
J Mov Disord. 2022;15(3):284-285.   Published online July 26, 2022
DOI: https://doi.org/10.14802/jmd.22037
Funded: National Research Foundation of Korea, Ministry of Education
  • 460 View
  • 94 Download
PDFSupplementary Material
Brief communication
Sensitivity of Detecting Alpha-Synuclein Accumulation in the Gastrointestinal Tract and Tissue Volume Examined
Chaewon Shin, Seong-Ik Kim, Sung-Hye Park, Jung Hwan Shin, Chan Young Lee, Han-Kwang Yang, Hyuk-Joon Lee, Seong-Ho Kong, Yun-Suhk Suh, Han-Joon Kim, Beomseok Jeon
J Mov Disord. 2022;15(3):264-268.   Published online July 26, 2022
DOI: https://doi.org/10.14802/jmd.22042
Funded: Seoul National University Hospital, Chungnam National University Sejong Hospital, National Research Foundation of Korea
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AbstractAbstract PDFSupplementary Material
Objective
This study aimed to evaluate whether a larger tissue volume increases the sensitivity of detecting alpha-synuclein (AS) pathology in the gastrointestinal (GI) tract.
Methods
Nine patients with Parkinson’s disease (PD) or idiopathic rapid eye movement sleep disorder (iRBD) who underwent GI operation and had full-depth intestinal blocks were included. All patients were selected from our previous study population. A total of 10 slides (5 serial sections from the proximal and distal blocks) per patient were analyzed.
Results
In previous studies, pathologic evaluation revealed phosphorylated AS (+) in 5/9 patients (55.6%) and in 1/5 controls (20.0%); in this extensive examination, this increased to 8/9 patients (88.9%) but remained the same in controls (20.0%). The severity and distribution of positive findings were similar between patients with iRBD and PD.
Conclusion
Examining a large tissue volume increased the sensitivity of detecting AS accumulation in the GI tract.
Original Article
Potential Link Between Cognition and Motor Reserve in Patients With Parkinson’s Disease
Seok Jong Chung, Yae Ji Kim, Yun Joong Kim, Hye Sun Lee, Mijin Yun, Phil Hyu Lee, Yong Jeong, Young H. Sohn
J Mov Disord. 2022;15(3):249-257.   Published online September 7, 2022
DOI: https://doi.org/10.14802/jmd.22063
Funded: National Research Foundation of Korea, Ministry of Education
  • 540 View
  • 61 Download
AbstractAbstract PDFSupplementary Material
Objective
To investigate whether there is a link between cognitive function and motor reserve (i.e., individual capacity to cope with nigrostriatal dopamine depletion) in patients with newly diagnosed Parkinson’s disease (PD).
Methods
A total of 163 patients with drug-naïve PD who underwent 18F-FP-CIT PET, brain MRI, and a detailed neuropsychological test were enrolled. We estimated individual motor reserve based on initial motor deficits and striatal dopamine depletion using a residual model. We performed correlation analyses between motor reserve estimates and cognitive composite scores. Diffusion connectometry analysis was performed to map the white matter fiber tracts, of which fractional anisotropy (FA) values were well correlated with motor reserve estimates. Additionally, Cox regression analysis was used to assess the effect of initial motor reserve on the risk of dementia conversion.
Results
The motor reserve estimate was positively correlated with the composite score of the verbal memory function domain (γ = 0.246) and with the years of education (γ = 0.251). Connectometry analysis showed that FA values in the left fornix were positively correlated with the motor reserve estimate, while no fiber tracts were negatively correlated with the motor reserve estimate. Cox regression analysis demonstrated that higher motor reserve estimates tended to be associated with a lower risk of dementia conversion (hazard ratio, 0.781; 95% confidence interval, 0.576–1.058).
Conclusion
The present study demonstrated that the motor reserve estimate was well correlated with verbal memory function and with white matter integrity in the left fornix, suggesting a possible link between cognition and motor reserve in patients with PD.
Letters to the editor
Presynaptic Dopaminergic Dysfunction Was Overestimated in Huntington’s Disease Presenting as Young Age-Onset Parkinsonism
Taewon Kim, Byeong Joo Choi, Chul Hyoung Lyoo
J Mov Disord. 2022;15(3):293-295.   Published online September 22, 2022
DOI: https://doi.org/10.14802/jmd.22071
Funded: Yonsei University College of Medicine
  • 235 View
  • 19 Download
PDFSupplementary Material
Syringomyelia Manifesting With Pseudodystonia: A Case Report
Yun Su Hwang, Seung Hyun Lee, Sungyang Jo, Sun Ju Chung
J Mov Disord. 2022;15(2):175-177.   Published online November 3, 2021
DOI: https://doi.org/10.14802/jmd.21121
Funded: Ministry of Health and Welfare
  • 3,504 View
  • 256 Download
PDFSupplementary Material
Original Article
Fecal Calprotectin in Parkinson’s Disease and Multiple System Atrophy
Jia Wei Hor, Shen-Yang Lim, Eng Soon Khor, Kah Kian Chong, Sze Looi Song, Norlinah Mohamed Ibrahim, Cindy Shuan Ju Teh, Chun Wie Chong, Ida Normiha Hilmi, Ai Huey Tan
J Mov Disord. 2022;15(2):106-114.   Published online December 24, 2021
DOI: https://doi.org/10.14802/jmd.21085
Funded: Ministry of Higher Education, Malaysia Fundamental Research Grant Scheme
  • 2,399 View
  • 294 Download
  • 3 Citations
AbstractAbstract PDFSupplementary Material
Objective
Converging evidence suggests that intestinal inflammation is involved in the pathogenesis of neurodegenerative diseases. Previous studies on fecal calprotectin in Parkinson’s disease (PD) were limited by small sample sizes, and literature regarding intestinal inflammation in multiple system atrophy (MSA) is very scarce. We investigated the levels of fecal calprotectin, a marker of intestinal inflammation, in PD and MSA.
Methods
We recruited 169 subjects (71 PD, 38 MSA, and 60 age-similar nonneurological controls). Clinico-demographic data were collected. PD and MSA were subtyped and the severity assessed using the MDS-UPDRS and UMSARS, respectively. Fecal calprotectin and blood immune markers were analyzed.
Results
Compared to controls (median: 35.7 [IQR: 114.2] μg/g), fecal calprotectin was significantly elevated in PD (median: 95.6 [IQR: 162.1] μg/g, p = 0.003) and even higher in MSA (median: 129.5 [IQR: 373.8] μg/g, p = 0.002). A significant interaction effect with age was observed; between-group differences were significant only in older subjects (i.e., ≥ 61 years) and became more apparent with increasing age. A total of 28.9% of MSA and 18.3% of PD patients had highly abnormal fecal calprotectin levels (≥ 250 μg/g); however, this difference was only significant for MSA compared to controls. Fecal calprotectin correlated moderately with selected blood immune markers in PD, but not with clinical features of PD or MSA.
Conclusions
Elevated fecal calprotectin suggests a role for intestinal inflammation in PD and MSA. A more complete understanding of gut immune alterations could open up new avenues of research and treatment for these debilitating diseases.

Citations

Citations to this article as recorded by  
  • The microbiome–gut–brain axis in Parkinson disease — from basic research to the clinic
    Ai Huey Tan, Shen Yang Lim, Anthony E. Lang
    Nature Reviews Neurology.2022; 18(8): 476.     CrossRef
  • The Gut Microbiome–Brain Crosstalk in Neurodegenerative Diseases
    Laura Ghezzi, Claudia Cantoni, Emanuela Rotondo, Daniela Galimberti
    Biomedicines.2022; 10(7): 1486.     CrossRef
  • Gastrointestinal Involvement in Extra-Digestive Disease: Which Is the Role of Fecal Calprotectin?
    Angela Saviano, Marcello Candelli, Christian Zanza, Andrea Piccioni, Alessio Migneco, Veronica Ojetti
    Medicina.2022; 58(10): 1384.     CrossRef
Letter to the editor
A Case of AOA2 With Compound Heterozygous SETX Mutations
Hee Jin Chang, Ryul Kim, Minchae Kim, Jangsup Moon, Man Jin Kim, Han-Joon Kim
J Mov Disord. 2022;15(2):178-180.   Published online December 24, 2021
DOI: https://doi.org/10.14802/jmd.21139
Funded: Korea Disease Control and Prevention Agency
  • 1,435 View
  • 218 Download
PDF
Brief communication
Automatic Measurement of Postural Abnormalities With a Pose Estimation Algorithm in Parkinson’s Disease
Jung Hwan Shin, Kyung Ah Woo, Chan Young Lee, Seung Ho Jeon, Han-Joon Kim, Beomseok Jeon
J Mov Disord. 2022;15(2):140-145.   Published online January 19, 2022
DOI: https://doi.org/10.14802/jmd.21129
Funded: Korea Movement Disorder Society
  • 1,474 View
  • 230 Download
AbstractAbstract PDFSupplementary Material
Objective
This study aims to develop an automated and objective tool to evaluate postural abnormalities in Parkinson’s disease (PD) patients.
Methods
We applied a deep learning-based pose-estimation algorithm to lateral photos of prospectively enrolled PD patients (n = 28). We automatically measured the anterior flexion angle (AFA) and dropped head angle (DHA), which were validated with conventional manual labeling methods.
Results
The automatically measured DHA and AFA were in excellent agreement with manual labeling methods (intraclass correlation coefficient > 0.95) with mean bias equal to or less than 3 degrees.
Conclusion
The deep learning-based pose-estimation algorithm objectively measured postural abnormalities in PD patients.
Letter to the editor
Asymmetric Parkinsonism With Progressive Nigrosomal Change Secondary to Kernohan’s Notch Phenomenon
Han-Kyeol Kim, Min Seok Baek, Sung Jun Ahn, Chul Hyoung Lyoo
J Mov Disord. 2022;15(2):184-186.   Published online March 16, 2022
DOI: https://doi.org/10.14802/jmd.21162
Funded: Yonsei University College of Medicine
  • 862 View
  • 100 Download
PDF
Brief communication
Validation of the Thai Version of the Movement Disorder Society-Sponsored Revision of the Unified Parkinson's Disease Rating Scale
Priya Jagota, Prachaya Srivanitchapoom, Sitthi Petchrutchatachart, Surat Singmaneesakulchai, Apichart Pisarnpong, Praween Lolekha, Suwanna Setthawatcharawanich, Parnsiri Chairangsaris, Natlada Limotai, Pawut Mekawichai, Pattamon Panyakaew, Onanong Phokaewvarangkul, Jirada Sringean, Yuvadee Pitakpatapee, Nancy LaPelle, Pablo Martinez-Martin, Xuehan Ren, Sheng Luo, Glenn T. Stebbins, Christopher G. Goetz, Roongroj Bhidayasiri
J Mov Disord. 2022;15(2):151-155.   Published online March 16, 2022
DOI: https://doi.org/10.14802/jmd.21104
Funded: Royal College of Physicians of Thailand
  • 1,275 View
  • 132 Download
  • 1 Citations
AbstractAbstract PDFSupplementary Material
Objective
This study aims to validate the Thai translation of the Movement Disorder Society-sponsored revision of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS).
Methods
The English version was translated into Thai and then back-translated into English. The translated version underwent 2 rounds of cognitive pretesting to assess the ease of comprehension, ease of use and comfort with the scale. Then, it underwent large clinimetric testing.
Results
The Thai version was validated in 354 PD patients. The comparative fit index (CFI) for all four parts of the Thai version of the MDS-UPDRS was 0.93 or greater. Exploratory factor analysis identified isolated item differences in factor structure between the Thai and English versions.
Conclusion
The overall factor structure of the Thai version was consistent with that of the English version based on the high CFIs (all CFI ≥ 0.90). Hence, it can be designated the official Thai version of the MDS-UPDRS.

Citations

Citations to this article as recorded by  
  • Vibratory and plantar pressure stimulation: Steps to improve freezing of gait in Parkinson's disease
    Warongporn Phuenpathom, Pattamon Panyakaew, Peerapon Vateekul, Decho Surangsrirat, Akarin Hiransuthikul, Roongroj Bhidayasiri
    Parkinsonism & Related Disorders.2022; 105: 43.     CrossRef

JMD : Journal of Movement Disorders