Journal of Movement Disorders

Volume 15(2); May 2022

Review Article

Diagnosis and Clinical Features in Autoimmune-Mediated Movement Disorders: Pei-Chen Hsieh, Yih-Ru Wu; J Mov Disord. 2022;15(2):95-105. Published online May 26, 2022; DOI: https://doi.org/10.14802/jmd.21077

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Abstract PDF Supplementary Material: Movement disorders are common manifestations in autoimmune-mediated encephalitis. This group of diseases is suspected to be triggered by infection or neoplasm. Certain phenotypes correlate with specific autoantibody-related neurological disorders, such as orofacial-lingual dyskinesia with N-methyl-D-aspartate receptor encephalitis and faciobrachial dystonic seizures with leucine-rich glioma-inactivated protein 1 encephalitis. Early diagnosis and treatment, especially for autoantibodies targeting neuronal surface antigens, can improve prognosis. In contrast, the presence of autoantibodies against intracellular neuronal agents warrants screening for underlying malignancy. However, early clinical diagnosis is challenging because these diseases can be misdiagnosed. In this article, we review the distinctive clinical phenotypes, magnetic resonance imaging findings, and current treatment options for autoimmune-mediated encephalitis.

Original Articles

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

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Abstract PDF Supplementary 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

Calprotectin in Parkinsonian disease: Anticipation and dedication
Hayder M. Al-kuraishy, Ali I. Al-Gareeb, Ayah Talal Zaidalkiani, Athanasios Alexiou, Marios Papadakis, Mostafa M. Bahaa, Ammar AL-Faraga, Gaber El-Saber Batiha
Ageing Research Reviews.2024; 93: 102143. CrossRef
Diagnostic Accuracy of Fecal Calprotectin in Discriminating Organic-Inflammatory Gastrointestinal Diseases and Functional Gastrointestinal Disorders in Older Patients
Antonella Gallo, Marcello Covino, Silvia Baroni, Sara Camilli, Francesca Ibba, Silvia Andaloro, Maria Chiara Agnitelli, Fiammetta Maria Rognoni, Francesco Landi, Massimo Montalto
Journal of Personalized Medicine.2024; 14(3): 227. CrossRef
Nocardia cyriacigeorgica Elicits Gut Disturbances in a Leaky Gut Model of Colitis, but Not the Harmful Cascade Leading to Gut-First Parkinson’s Disease
João Duarte Magalhães, Emanuel Candeias, Inês Melo-Marques, António E. Abreu, Ana Raquel Pereira-Santos, Ana Raquel Esteves, Sandra Morais Cardoso, Nuno Empadinhas
International Journal of Molecular Sciences.2024; 25(6): 3423. CrossRef
Inflammation in multiple system atrophy
Marta Leńska-Mieciek, Natalia Madetko-Alster, Piotr Alster, Leszek Królicki, Urszula Fiszer, Dariusz Koziorowski
Frontiers in Immunology.2023;[Epub] CrossRef
Gut-to-brain spreading of pathology in synucleinopathies: A focus on molecular signalling mediators
Verena Schmitt, Rebecca Katharina Masanetz, Martin Weidenfeller, Lara Savannah Ebbinghaus, Patrick Süß, Stephan P. Rosshart, Stephan von Hörsten, Friederike Zunke, Jürgen Winkler, Wei Xiang
Behavioural Brain Research.2023; 452: 114574. CrossRef
Calprotectin, Biomarker of Depression in Patients with Inflammatory Bowel Disease?
Miorita Melina Iordache, Anca Mihaela Belu, Sabina E. Vlad, Kamer Ainur Aivaz, Andrei Dumitru, Cristina Tocia, Eugen Dumitru
Medicina.2023; 59(7): 1240. CrossRef
Different pieces of the same puzzle: a multifaceted perspective on the complex biological basis of Parkinson’s disease
Amica C. Müller-Nedebock, Marieke C. J. Dekker, Matthew J. Farrer, Nobutaka Hattori, Shen-Yang Lim, George D. Mellick, Irena Rektorová, Mohamed Salama, Artur F. S. Schuh, A. Jon Stoessl, Carolyn M. Sue, Ai Huey Tan, Rene L. Vidal, Christine Klein, Soraya
npj Parkinson's Disease.2023;[Epub] CrossRef
Fecal calprotectin as an intestinal inflammation marker is elevated in glaucoma
Zuo Wang, Hang Yuan, Xiong Zhu, Jinxia Wang, Wenbo Xiu, Yang Chen, Gao Zhang, Jing Fu, Kun Peng, An Li, Donghua Liu, Xijing Huang, Chong He, Fang Lu
Biomarkers in Medicine.2023; 17(9): 465. CrossRef
Pesticides and the Microbiome-Gut-Brain Axis: Convergent Pathways in the Pathogenesis of Parkinson’s Disease
Kristina Kulcsarova, Corinna Bang, Daniela Berg, Eva Schaeffer
Journal of Parkinson's Disease.2023; 13(7): 1079. CrossRef
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

Umami and Other Taste Perceptions in Patients With Parkinson’s Disease: Priya Jagota, Nattida Chotechuang, Chanawat Anan, Teeraparp Kitjawijit, Chanchai Boonla, Roongroj Bhidayasiri; J Mov Disord. 2022;15(2):115-123. Published online March 22, 2022; DOI: https://doi.org/10.14802/jmd.21058

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Abstract PDF

Objective
Studies of taste perceptions in Parkinson’s disease (PD) patients have been controversial, and none of these studies have assessed umami taste. This study aimed to assess umami, along with the other 4 taste functions in PD patients.
Methods
Participants were tested for gustation using the modified filter paper disc method and olfaction using the modified Sniffin’ Stick-16 (mSS-16) test (only 14 culturally suitable items were used). A questionnaire evaluated patients’ subjective olfactory and gustatory dysfunction, taste preference, appetite, and food habits.
Results
A total of 105 PD patients and 101 age- and sex-matched controls were included. The body mass index (BMI) of PD patients was lower than that of controls (PD = 22.62, controls = 23.86, p = 0.028). The mSS-16 score was 10.7 for controls and 6.4 for PD patients (p < 0.001) (normal ≥ 9). Taste recognition thresholds (RTs) for sweet, salty, sour, bitter and umami tastes were significantly higher in PD, indicating poorer gustation. All taste RTs correlated with each other, except for umami. Most patients were unaware of their dysfunction. Patients preferred sweet, salty and umami tastes more than the controls. Dysgeusia of different tastes in patients was differentially associated with poorer discrimination of tastes, an inability to identify the dish and adding extra seasoning to food. BMI and mSS-16 scores showed no correlation in either patients or controls.
Conclusion
PD patients have dysgeusia for all five tastes, including umami, which affects their appetite and diet. Patients preferred sweet, salty and umami tastes. This information can help adjust patients’ diets to improve their nutritional status.

Citations

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The missing piece of the puzzle – The key role of the dietitian in the management of Parkinson's disease
Richelle Flanagan, Carley Rusch, Fiona E. Lithander, Indu Subramanian
Parkinsonism & Related Disorders.2024; 121: 106021. CrossRef
Body mass index in patients with Parkinson’s disease: a systematic review
Yinghui Li, Yumei Liu, Chuanning Du, Jun Wang
Journal of Neurophysiology.2024; 131(2): 311. CrossRef
Apnea behavior in early- and late-stage mouse models of Parkinson's disease: Cineradiographic analysis of spontaneous breathing, acute stress, and swallowing
Lorena Roberta de Souza Mendes Kawamura, Max Sarmet, Priscila Sales de Campos, Sachiko Takehara, Yasuhiro Kumei, Jorge Luis Lopes Zeredo
Respiratory Physiology & Neurobiology.2024; 323: 104239. CrossRef
Gustatory dysfunction is related to Parkinson's disease: A systematic review and meta‐analysis
Il‐Youp Kwak, Kyung Soo Kim, Hyun Jin Min
International Forum of Allergy & Rhinology.2023; 13(10): 1949. CrossRef

Development of Clinical Milestones in Parkinson’s Disease After Bilateral Subthalamic Deep Brain Stimulation: Jed Noel A. Ong, Jung Hwan Shin, Seungho Jeon, Chan Young Lee, Han-Joon Kim, Sun Ha Paek, Beomseok Jeon; J Mov Disord. 2022;15(2):124-131. Published online May 26, 2022; DOI: https://doi.org/10.14802/jmd.21106

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Abstract PDF Supplementary Material

Objective
Deep brain stimulation of the subthalamic nucleus (STN-DBS) in Parkinson’s disease (PD) patients does not halt disease progression, as these patients will progress and develop disabling non-levodopa responsive symptoms. These features may act as milestones that represent the overall functionality of patients after DBS. The objective of this study was to investigate the development of clinical milestones in advanced PD patients who underwent bilateral STN-DBS.
Methods
The study evaluated PD patients who underwent STN-DBS at baseline up to their last follow-up using the Unified Parkinson’s Disease Rating Scale and Hoehn and Yahr scale. The symptoms of hallucinations, dysarthria, dysphagia, frequent falls, difficulty walking, cognitive impairment and the loss of autonomy were chosen as the clinical milestones.
Results
A total of 106 patients with a mean age of 47.21 ± 10.52 years at disease onset, a mean age of 58.72 ± 8.74 years at surgery and a mean disease duration of 11.51 ± 4.4 years before surgery were included. Initial improvement of motor symptoms was seen after the surgery with the appearance of clinical milestones over time. Using the moderately disabling criteria, 81 patients (76.41%) developed at least one clinical milestone, while 48 patients (45.28%) developed a milestone when using the severely disabling criteria.
Conclusion
STN-DBS has a limited effect on axial and nonmotor symptoms of the PD patients, in contrast to the effect on motor symptoms. These symptoms may serve as clinical milestones that can convey the status of PD patients and its impact on the patients and their caregivers. Therefore, advanced PD patients, even those treated with bilateral STN-DBS, will still require assistance and cannot live independently in the long run.

Citations

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Unveiling the Impact of Outpatient Physiotherapy on Specific Motor Symptoms in Parkinson’s Disease: A Prospective Cohort Study
Yuta Terasawa, Koki Ikuno, Shintaro Fujii, Yuki Nishi, Emi Tanizawa, Sachio Nabeshima, Yohei Okada
Brain & Neurorehabilitation.2023;[Epub] CrossRef

Accuracy of Machine Learning Using the Montreal Cognitive Assessment for the Diagnosis of Cognitive Impairment in Parkinson’s Disease: Junbeom Jeon, Kiyong Kim, Kyeongmin Baek, Seok Jong Chung, Jeehee Yoon, Yun Joong Kim; J Mov Disord. 2022;15(2):132-139. Published online May 26, 2022; DOI: https://doi.org/10.14802/jmd.22012

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Abstract PDF Supplementary Material: Objective
The Montreal Cognitive Assessment (MoCA) is recommended for assessing general cognition in Parkinson’s disease (PD). Several cutoffs of MoCA scores for diagnosing PD with cognitive impairment (PD-CI) have been proposed, with varying sensitivity and specificity. This study investigated the utility of machine learning algorithms using MoCA cognitive domain scores for improving diagnostic performance for PD-CI.
Methods
In total, 2,069 MoCA results were obtained from 397 patients with PD enrolled in the Parkinson’s Progression Markers Initiative database with a diagnosis of cognitive status based on comprehensive neuropsychological assessments. Using the same number of MoCA results randomly sampled from patients with PD with normal cognition or PD-CI, discriminant validity was compared between machine learning (logistic regression, support vector machine, or random forest) with domain scores and a cutoff method.
Results
Based on cognitive status classification using a dataset that permitted sampling of MoCA results from the same individual (n = 221 per group), no difference was observed in accuracy between the cutoff value method (0.74 ± 0.03) and machine learning (0.78 ± 0.03). Using a more stringent dataset that excluded MoCA results (n = 101 per group) from the same patients, the accuracy of the cutoff method (0.66 ± 0.05), but not that of machine learning (0.74 ± 0.07), was significantly reduced. Inclusion of cognitive complaints as an additional variable improved the accuracy of classification using the machine learning method (0.87–0.89).
Conclusion
Machine learning analysis using MoCA domain scores is a valid method for screening cognitive impairment in PD.

Brief communications

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

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Abstract PDF Supplementary 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.

Citations

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Three‐Dimensional Mesh Recovery from Common 2‐Dimensional Pictures for Automated Assessment of Body Posture in Camptocormia
Robin Wolke, Olga Gavriliuc, Oliver Granert, Günther Deuschl, Nils G. Margraf
Movement Disorders Clinical Practice.2023; 10(3): 472. CrossRef
Assessment of Axial Postural Abnormalities in Parkinsonism: Automatic Picture Analysis Software
Carlo Alberto Artusi, Christian Geroin, Gabriele Imbalzano, Serena Camozzi, Stefano Aldegheri, Leonardo Lopiano, Michele Tinazzi, Nicola Bombieri
Movement Disorders Clinical Practice.2023; 10(4): 636. CrossRef
Camera- and Viewpoint-Agnostic Evaluation of Axial Postural Abnormalities in People with Parkinson’s Disease through Augmented Human Pose Estimation
Stefano Aldegheri, Carlo Alberto Artusi, Serena Camozzi, Roberto Di Marco, Christian Geroin, Gabriele Imbalzano, Leonardo Lopiano, Michele Tinazzi, Nicola Bombieri
Sensors.2023; 23(6): 3193. CrossRef

Long-Term Outcome of Hemimasticatory Spasm: Somdattaa Ray, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2022;15(2):146-150. Published online March 16, 2022; DOI: https://doi.org/10.14802/jmd.21067

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Abstract PDF Supplementary Material

Objective
This study aims to identify the demographic, clinical, and therapeutic characteristics of four patients with hemimasticatory spasm (HMS) seen in our outpatient department over a period of 20 years.
Methods
We performed a retrospective chart review of four patients with HMS who visited outpatient services in the Department of Neurology from 2001 to 2020.
Results
The follow-up for all patients ranged from 2 years to 9 years. Three patients had facial or bucco-oral morphea. Two patients maintained long-term improvements in symptoms after being treated with botulinum toxin for 4–7 years, while one patient reported improvement in symptoms with treatment of carbamazepine that subsequently remitted after pregnancy.
Conclusion
This report highlights the long-term outcome of HMS in our patients. Our patients reported a significant reduction or complete resolution of symptoms after treatment, and eventually, two patients were asymptomatic while off treatment.

Citations

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Hemimasticatory spasm: a series of 17 cases and a comprehensive review of the literature
Kazuya Yoshida
Frontiers in Neurology.2024;[Epub] CrossRef
Hemimasticatory Spasm Treated with Muscle Afferent Block Therapy and Occlusal Splint
Kazuya Yoshida
Journal of Movement Disorders.2024;[Epub] CrossRef
Peripherally-induced Movement Disorders: An Update
Abhishek Lenka, Joseph Jankovic
Tremor and Other Hyperkinetic Movements.2023;[Epub] CrossRef

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

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Abstract PDF Supplementary 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

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Validation of the Kazakh Version of the Movement Disorder Society-Unified Parkinson's Disease Rating Scale
Saltanat Abdraimova, Zhanybek Myrzayev, Altynay Karimova, Altynay Talgatkyzy, Talgat Khaibullin, Gulnaz Kaishibayeva, Sandugash Elubaeva, Karlygash Esembekova, Dongrak Choi, Pablo Martinez-Martin, Christopher G. Goetz, Glenn T. Stebbins, Sheng Luo, Chingi
Clinical Parkinsonism & Related Disorders.2024; 10: 100232. CrossRef
Residual effects of combined vibratory and plantar stimulation while seated influences plantar pressure and spatiotemporal gait measures in individuals with Parkinson’s disease exhibiting freezing of gait
Warongporn Phuenpathom, Pattamon Panyakaew, Peerapon Vateekul, Decho Surangsrirat, Roongroj Bhidayasiri
Frontiers in Aging Neuroscience.2024;[Epub] CrossRef
Global Epidemiology of Movement Disorders: Rare or Underdiagnosed?
Sarah A. O'Shea, Ludy C. Shih
Seminars in Neurology.2023; 43(01): 004. CrossRef
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

Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India: Vikram Venkappayya Holla, Koti Neeraja, Albert Stezin, Shweta Prasad, Bharat Kumar Surisetti, Manjunath Netravathi, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2022;15(2):156-161. Published online March 16, 2022; DOI: https://doi.org/10.14802/jmd.21146

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Abstract PDF Supplementary Material

Objective
With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES) in dystonia and factors suggestive of a genetic etiology.
Methods
This study was a retrospective chart review of patients with dystonia who had undergone CES for the evaluation of dystonia.
Results
Forty-eight patients (35 males, 46 families) with dystonia were studied, with a mean age at onset of 16.0 ± 14.1 (1–58) years. A pathogenic/likely pathogenic variant was found in 20 patients (41.7%) among which 14 patients (29.2%) carried a novel variant. CES was more likely to detect a genetic diagnosis in patients with an early age at onset, i.e., ≤ 20 years.
Conclusion
CES is a useful tool in the diagnostic evaluation of dystonia, with a yield of close to 40%. Patients with an earlier age at onset have a higher likelihood of having dystonia due to a genetic cause than those with a later age at onset.

Citations

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Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights
Burcu Atasu, Javier Simón-Sánchez, Hasmet Hanagasi, Basar Bilgic, Ann-Kathrin Hauser, Gamze Guven, Peter Heutink, Thomas Gasser, Ebba Lohmann
Journal of Medical Genetics.2024; : jmg-2022-109099. CrossRef
Whole exome sequencing and clinical investigation of young onset dystonia: What can we learn?
Jong Hyeon Ahn, Ah Reum Kim, Woong-Yang Park, Jin Whan Cho, Jongkyu Park, Jinyoung Youn
Parkinsonism & Related Disorders.2023; 115: 105814. CrossRef

Case Reports

Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review: Chun-Yang Sim, Shahizon Azura Mohamed Mukari, Lock-Hock Ngu, Chia-Yin Loh, Rabani Remli, Norlinah Mohamed Ibrahim; J Mov Disord. 2022;15(2):162-166. Published online December 24, 2021; DOI: https://doi.org/10.14802/jmd.21120

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Labrune’s syndrome, or leukoencephalopathy with brain calcifications and cysts (LCC), is a rare genetic syndrome with variable neurological presentations. Psychiatric manifestations and involuntary movements are uncommonly reported. We report the case of a 19-year-old female, initially diagnosed with Fahr’s syndrome, who presented to us with acute psychosis, abnormal behavior and involuntary movements. Her brain computed tomography showed extensive bilateral intracranial calcifications without cysts. Genetic testing detected two compound heterozygous variants, NR_033294.1 n.*9C>T and n.24C>T, in the SNORD118 gene, confirming the diagnosis of LCC. We discuss the expanding phenotypic spectrum of LCC and provide a literature review on the current diagnosis and management of this rare syndrome.

Citations

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Leukoencephalopathy, calcifications, and cysts: Labrune syndrome
Andrew Waack, Jordan Norris, Kathryn Becker, Alastair Hoyt, Jason Schroeder
Radiology Case Reports.2023; 18(2): 584. CrossRef
Leukoencephalopathy with calcifications and cysts: A case report with literature review
Jingya Li, Chun Li, Qing Zhang, Chao Qiu
Neurological Sciences.2023; 44(8): 2715. CrossRef
Adult-Onset Genetic Leukoencephalopathies With Movement Disorders
Mu-Hui Fu, Yung-Yee Chang
Journal of Movement Disorders.2023; 16(2): 115. CrossRef
Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature
Davide Politano, Guido Catalano, Elena Pezzotti, Costanza Varesio, Fabio Sirchia, Antonella Casella, Elisa Rognone, Anna Pichiecchio, Renato Borgatti, Simona Orcesi
Genes.2023; 14(9): 1817. CrossRef
Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab
Elena Scaffei, Bianca Buchignani, Rosa Pasquariello, Paola Cristofani, Raffaello Canapicchi, Laura Biagi, Flavio Giordano, Emanuela De Marco, Yanick J. Crow, Roberta Battini
Frontiers in Neurology.2023;[Epub] CrossRef

Expanding the Clinical Spectrum of RFC1 Gene Mutations: Dinkar Kulshreshtha, Jacky Ganguly, Mandar Jog; J Mov Disord. 2022;15(2):167-170. Published online March 22, 2022; DOI: https://doi.org/10.14802/jmd.21117

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Abstract PDF Supplementary Material

Biallelic intronic repeat expansion in the replication factor complex unit 1 (RFC1) gene has recently been described as a cause of late onset ataxia with degeneration of the cerebellum, sensory pathways and the vestibular apparatus. This condition is termed cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). Since the identification of this novel gene mutation, the phenotypic spectrum of RFC1 mutations continues to expand and includes not only CANVAS but also slowly progressive cerebellar ataxia, ataxia with chronic cough (ACC), isolated sensory neuropathy and multisystemic diseases. We present a patient with a genetically confirmed intronic repeat expansion in the RFC1 gene with a symptom complex not described previously.

Citations

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Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
Ilaria Quartesan, Elisa Vegezzi, Riccardo Currò, Amanda Heslegrave, Chiara Pisciotta, Pablo Iruzubieta, Alessandro Salvalaggio, Gorka Fernández‐Eulate, Natalia Dominik, Bianca Rugginini, Arianna Manini, Elena Abati, Stefano Facchini, Katarina Manso, Ines
Movement Disorders.2024; 39(1): 209. 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; J Mov Disord. 2022;15(2):171-174. Published online March 22, 2022; DOI: https://doi.org/10.14802/jmd.21143

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Abstract PDF

Mutations in the manganese transporter gene SLC39A14 lead to inherited disorders of manganese metabolism. Chelation therapy with edetate calcium disodium (CaNa2EDTA) is known to effectively reduce manganese deposition. We describe the first identified Korean case of SLC39A14-associated manganism and the treatment response to a 5-year chelation therapy. An 18-year-old female presented with childhood-onset dystonia. Magnetic resonance imaging showed T1 hyperintensity throughout the basal ganglia, brainstem, cerebellum, cerebral and cerebellar white matter, and pituitary gland. Blood manganese levels were elevated, and whole-exome sequencing revealed compound heterozygous mutations in SLC39A14. Treatment with intravenous CaNa₂EDTA led to a significant reduction in serum manganese levels and T1 hyperintensities. However, her dystonia improved insignificantly. Hence, early diagnosis of this genetic disorder is essential because it is potentially treatable. Even though our treatment did not significantly reverse the establish deficits, chelation therapy could have been more effective if it was started at an earlier stage of the disease.

Citations

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Recent progress toward understanding the role of ZIP14 in regulating systemic manganese homeostasis
Shannon McCabe, Kirsten Limesand, Ningning Zhao
Computational and Structural Biotechnology Journal.2023; 21: 2332. CrossRef
Metal-ion transporter SLC39A8 is required for brain manganese uptake and accumulation
Qingli Liu, Supak Jenkitkasemwong, Tamanna Afrin Prami, Shannon Morgan McCabe, Ningning Zhao, Shintaro Hojyo, Toshiyuki Fukada, Mitchell D. Knutson
Journal of Biological Chemistry.2023; 299(8): 105078. CrossRef
Loss of slc39a14 causes simultaneous manganese hypersensitivity and deficiency in zebrafish
Karin Tuschl, Richard J. White, Chintan Trivedi, Leonardo E. Valdivia, Stephanie Niklaus, Isaac H. Bianco, Chris Dadswell, Ramón González-Méndez, Ian M. Sealy, Stephan C. F. Neuhauss, Corinne Houart, Jason Rihel, Stephen W. Wilson, Elisabeth M. Busch-Nent
Disease Models & Mechanisms.2022;[Epub] CrossRef
Hereditary Disorders of Manganese Metabolism: Pathophysiology of Childhood-Onset Dystonia-Parkinsonism in SLC39A14 Mutation Carriers and Genetic Animal Models
Alexander N. Rodichkin, Tomás R. Guilarte
International Journal of Molecular Sciences.2022; 23(21): 12833. CrossRef
Pathophysiological studies of aging Slc39a14 knockout mice to assess the progression of manganese-induced dystonia-parkinsonism
Alexander N. Rodichkin, Melissa K. Edler, Jennifer L. McGlothan, Tomás R. Guilarte
NeuroToxicology.2022; 93: 92. CrossRef
Mechanisms of manganese-induced neurotoxicity and the pursuit of neurotherapeutic strategies
Edward Pajarillo, Ivan Nyarko-Danquah, Alexis Digman, Harpreet Kaur Multani, Sanghoon Kim, Patric Gaspard, Michael Aschner, Eunsook Lee
Frontiers in Pharmacology.2022;[Epub] CrossRef

Letters to the editor

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

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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

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Pseudodystonia and Neuropathic Tremor in a Patient With Monomelic Amyotrophy: Seung Hyun Lee, Yun Su Hwang, Sungyang Jo, Sun Ju Chung; J Mov Disord. 2022;15(2):181-183. Published online March 22, 2022; DOI: https://doi.org/10.14802/jmd.21138

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