Journal of Movement Disorders

Letter to the editor

A novel pathogenic PSEN1 variant in a patient with dystonia-parkinsonism without dementia: Maria Chiara Malaguti, Alessio di Fonzo, Chiara Longo, Raffaella Di Giacopo, Costanza Papagno, Davide Donner, Umberto Rozzanigo, Edoardo Monfrini; Received June 30, 2023 Accepted September 13, 2023 Published online September 14, 2023; DOI: https://doi.org/10.14802/jmd.23125 [Accepted]

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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

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Abstract PDF Supplementary 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 Articles

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

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Abstract PDF Supplementary 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.

Reliability and Validity of the Embouchure Dystonia Severity Rating Scale: Tobias Mantel, André Lee, Shinichi Furuya, Masanori Morise, Eckart Altenmüller, Bernhard Haslinger; J Mov Disord. 2023;16(2):191-195. Published online May 24, 2023; DOI: https://doi.org/10.14802/jmd.22213

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Abstract PDF Supplementary Material: Objective
Embouchure dystonia (ED) is a task-specific movement disorder that leads to loss of fine motor control of the embouchure and tongue muscles in wind musicians. In contrast to musicians’ hand dystonia, no validated severity rating for ED exists, posing a major obstacle for structured assessment in scientific and clinical settings. The aim of this study is to validate an ED severity rating scale (EDSRS) allowing for a standardized estimation of symptom severity in ED.
Methods
The EDSRS was set up as a composite score of six items evaluating audio-visual disease symptoms during the performance of three standardized musical tasks (sustained notes, scales, and fourths) separately for each body side. For validation, 17 musicians with ED underwent standardized audiovisual recordings during performance. Anonymized and randomized recordings were assessed by two experts in ED (raters). Statistical analysis included metrics of consistency, reliability, and construct validity with the fluctuation of the fundamental frequency of the acoustic signal (F0) (extracted in an audio analysis of the sustained notes).
Results
The EDSRS showed high internal consistency (Cronbach’s α = 0.975−0.983, corrected item-total correlations r = 0.90−0.96), interrater reliability (intraclass correlation coefficient [ICC] for agreement/consistency = 0.94/0.96), intrarater reliability over time (ICC per rater = 0.93/0.87) and good precision (standard error of measurement = 2.19/2.65), and correlated significantly with F0 variability (r = 0.55–0.60, p = 0.011–0.023).
Conclusion
The developed EDSRS is a valid and reliable tool for the assessment of ED severity in the hands of trained expert raters. Its easy applicability makes it suitable not only for routine clinical practice but also for scientific studies.

Review Articles

Adult-Onset Genetic Leukoencephalopathies With Movement Disorders: Mu-Hui Fu, Yung-Yee Chang; J Mov Disord. 2023;16(2):115-132. Published online March 7, 2023; DOI: https://doi.org/10.14802/jmd.22127

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Abstract PDF: Genetic leukoencephalopathies (GLEs) are a group of white matter abnormalities with heterogeneous radiological and phenotypic features. Although these conditions have mostly been described in children, adult-onset cases are increasingly recognized owing to the widespread use of neuroimaging and advances in molecular genetic testing. The disease course is often progressive with a varied spectrum of presentations, trapping neurologists in the dilemma of differential diagnosis. Movement disorders are among the most common symptoms, and their diversity makes diagnosis challenging. In this review, we focus on adult-onset GLEs with movement disorders and offer a step-by-step diagnostic approach by clarifying the phenomenology of movement, advising investigations for acquired causes, describing the clinical and radiological clues to each disease, emphasizing the limitations of advanced molecular testing, and discussing the future application of artificial intelligence. We provide a list summarizing the leukoencephalopathies associated with different categories of movement disorders. In addition to guiding clinicians on how to narrow the list of differential diagnoses with the tools currently available, another aim of this review is to emphasize the inevitable trend toward applying advanced technology in diagnosing these difficult diseases.

Movement Disorders Associated With Radiotherapy and Surgical Procedures: Bharath Kumar Surisetti, Shweta Prasad, Vikram Venkappayya Holla, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2023;16(1):42-51. Published online January 12, 2023; DOI: https://doi.org/10.14802/jmd.22092

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Abstract PDF: Occasionally, movement disorders can occur following interventional procedures including but not limited to radiotherapy, dental procedures, and cardiac, cerebral and spinal surgeries. The majority of these disorders tend to be unexpected sequelae with variable phenomenology and latency, and they can often be far more disabling than the primary disease for which the procedure was performed. Owing to poor knowledge and awareness of the problem, delays in diagnosing the condition are common, as are misdiagnoses as functional movement disorders. This narrative review discusses the phenomenology, pathophysiology, and potential treatments of various movement disorders caused by interventional procedures such as radiotherapy and neurological and non-neurological surgeries and procedures.

Case Report

A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up: Alfand Marl F. Dy Closas, Katja Lohmann, Ai Huey Tan, Norlinah Mohamed Ibrahim, Jia Lun Lim, Yi Wen Tay, Kalai Arasu Muthusamy, Azlina Binti Ahmad-Annuar, Christine Klein, Shen-Yang Lim; J Mov Disord. 2023;16(1):91-94. Published online December 20, 2022; DOI: https://doi.org/10.14802/jmd.22109

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Abstract PDF Supplementary Material: KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome typically beginning in the lower limbs and progressing caudocranially to affect the upper limbs with eventual prominent craniocervical involvement. Despite its recent recognition, it now appears to be one of the more common monogenic causes of dystonia syndromes. Here, we present an atypical case of DYT-KMT2B with oromandibular dystonia as the presenting feature, which remained restricted to this region three decades after symptom onset. This appears to be the first reported case of DYT-KMT2B from Southeast Asia and provides further supporting evidence for the pathogenic impact of the KMT2B c.6210_6213delTGAG variant.

Review Article

Pallidus Stimulation for Chorea-Acanthocytosis: A Systematic Review and Meta-Analysis of Individual Data: Weibin He, Chenhui Li, Hongjuan Dong, Lingmin Shao, Bo Yin, Dianyou Li, Liguo Ye, Ping Hu, Chencheng Zhang, Wei Yi; J Mov Disord. 2022;15(3):197-205. Published online July 26, 2022; DOI: https://doi.org/10.14802/jmd.22003

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Abstract PDF Supplementary Material: A significant proportion of patients with chorea-acanthocytosis (ChAc) fail to respond to standard therapies. Recent evidence suggests that globus pallidus internus (GPi) deep brain stimulation (DBS) is a promising treatment option; however, reports are few and limited by sample sizes. We conducted a systematic literature review to evaluate the clinical outcome of GPi-DBS for ChAc. PubMed, Embase, and Cochrane Library databases were searched for relevant articles published before August 2021. The improvement of multiple motor and nonmotor symptoms was qualitatively presented. Improvements in the Unified Huntington’s Disease Rating Scale motor score (UHDRS-MS) were also analyzed during different follow-up periods. A multivariate linear regression analysis was conducted to identify potential predictors of clinical outcomes. Twenty articles, including 27 patients, were eligible. Ninety-six percent of patients with oromandibular dystonia reported significant improvement. GPi-DBS significantly improved the UHDRS-motor score at < 6 months (p < 0.001) and ≥ 6 months (p < 0.001). The UHDRS-motor score improvement rate was over 25% in 75% (15/20 cases) of patients at long-term follow-up (≥ 6 months). The multiple linear regression analysis showed that sex, age at onset, course of disease, and preoperative movement score had no linear relationship with motor improvement at long-term follow-up (p > 0.05). GPi-DBS is an effective and safe treatment in most patients with ChAc, but no reliable predictor of efficacy has been found. Oromandibular dystonia-dominant patients might be the best candidates for GPi-DBS.

Original Article

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

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Abstract PDF Supplementary 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.

Citations

Citations to this article as recorded by

Surgical treatment of movement disorders in neurometabolic conditions
Alonso Zea Vera, Andrea L. Gropman
Frontiers in Neurology.2023;[Epub] CrossRef

Brief communication

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

Citations to this article as recorded by

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

Deep Brain Stimulation for Cockayne Syndrome-Associated Movement Disorder: Joseph S. Domino, Rose Gelineau-Morel, Christian Kaufman; J Mov Disord. 2022;15(1):62-65. Published online November 3, 2021; DOI: https://doi.org/10.14802/jmd.21005

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Abstract PDF Supplementary Material

Cockayne syndrome (CS) is a rare progeroid disorder characterized by multisystem degeneration, including neurological dysfunction, for which deep brain stimulation (DBS) is a proposed treatment. This study represents only the third case of DBS for CS-associated movement disorder and the first in which both proposed targets had devices implanted, allowing for direct comparison. A case of DBS for CS-associated movement disorder is presented. Previous literature documents two cases with one targeting the ventral intermediate nucleus of the thalamus (VIM) and the other targeting the globus pallidus interna (GPi). Our patient underwent stimulation of GPi nuclei followed by repositioning to VIM nuclei with improved symptom control using VIM stimulation. In all cases, there was a significant clinical benefit without off-target effects. CS-associated movement disorder exhibits phenotypic variability for which DBS is a viable treatment. Target selection should be driven by clinical phenotype.

Citations

Citations to this article as recorded by

Cockayne syndrome type 3 with dystonia‐ataxia and clicking blinks
Özge Berna Gültekin‐Zaim, Gül Yalçın‐Çakmaklı, Ayşe İlksen Çolpak, Pelin Özlem Şimşek‐Kiper, Gülen Eda Utine, Bülent Elibol
Movement Disorders Clinical Practice.2023;[Epub] CrossRef

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

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5 Citations

Abstract PDF Supplementary 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

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Possible EIF2AK2‐Associated Stress‐Related Neurological Decompensation with Combined Dystonia and Striatal Lesions
Sophie E. Waller, Hugo Morales‐Briceño, Laura Williams, Shekeeb S. Mohammad, Avi Fellner, Kishore R. Kumar, Michel Tchan, Victor S.C. Fung
Movement Disorders Clinical Practice.2022; 9(2): 240. CrossRef
Movement disorders and neuropathies: overlaps and mimics in clinical practice
Francesco Gentile, Alessandro Bertini, Alberto Priori, Tommaso Bocci
Journal of Neurology.2022; 269(9): 4646. CrossRef
Transgenic Mice for the Translational Study of Neuropathic Pain and Dystonia
Damiana Scuteri, Kengo Hamamura, Chizuko Watanabe, Paolo Tonin, Giacinto Bagetta, Maria Tiziana Corasaniti
International Journal of Molecular Sciences.2022; 23(15): 8580. CrossRef
An overview of the pharmacotherapeutics for dystonia: advances over the past decade
O. Abu-hadid, J. Jimenez-Shahed
Expert Opinion on Pharmacotherapy.2022; 23(17): 1927. CrossRef
Exploitation of Thermal Sensitivity and Hyperalgesia in a Mouse Model of Dystonia
Damiana Scuteri, Laura Rombolà, Silvia Natoli, Antonio Pisani, Paola Bonsi, Kengo Hamamura, Giacinto Bagetta, Paolo Tonin, Maria Tiziana Corasaniti
Life.2021; 11(9): 985. CrossRef

Original Article

Impact of Upper Eyelid Surgery on Symptom Severity and Frequency in Benign Essential Blepharospasm: Hannah Mary Timlin, Kailun Jiang, Daniel George Ezra; J Mov Disord. 2021;14(1):53-59. Published online January 12, 2021; DOI: https://doi.org/10.14802/jmd.20075

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Abstract PDF: Objective
To assess the impact of periocular surgery, other than orbicularis stripping, on the severity and frequency of blepharospasm symptoms.
Methods
Consecutive patients with benign essential blepharospasm (BEB) who underwent eyelid/eyebrow surgery with the aim of improving symptoms were retrospectively reviewed over a 5-year period. Patients who had completed the Jankovic Rating Scale (JRS) and Blepharospasm Disability Index (BDI) pre- and at least 3 months postoperatively were included.
Results
Twenty-four patients were included. JRS scores significantly improved from 7.0 preoperatively to 4.1 postoperatively (p < 0.001), and BDI scores significantly improved from 18.4 preoperatively to 12.7 postoperatively (p < 0.001); the mean percentage improvements were 41% and 30%, respectively. Patients were followed for a median of 24 months postoperatively.
Conclusion
Periocular surgery significantly reduced BEB symptoms in the majority (83%) of patients by an average of 33% and may therefore be offered for suitable patients. An important minority (17%) of patients experienced symptom worsening.

Brief communication

Deep Brain Stimulation Battery Exhaustion during the COVID-19 Pandemic: Crisis within a Crisis: Vikram Venkappayya Holla, Koti Neeraja, Bharath Kumar Surisetti, Shweta Prasad, Nitish Kamble, Dwarakanath Srinivas, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2020;13(3):218-222. Published online August 31, 2020; DOI: https://doi.org/10.14802/jmd.20073

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Abstract PDF

Objective
The novel coronavirus disease (COVID-19) pandemic and public health measures to control it have resulted in unique challenges in the management of patients with deep brain stimulation (DBS). We report our experience with the management of acute worsening of symptoms due to battery exhaustion in 3 patients with DBS.
Methods
Patients with DBS for movement disorders who visited the emergency room due to battery exhaustion during the nationwide lockdown from April to May 2020 were included.
Results
Two patients with subthalamic nucleus-DBS for Parkinson’s disease (PD) and one with globus pallidus interna-DBS for generalized dystonia presented with acute worsening of symptoms due to battery exhaustion. Urgent battery replacement was performed in both patients with PD. The patient with generalized dystonia was managed with medication adjustment as he chose to defer battery replacement.
Conclusion
DBS battery replacement can be an emergency. Decisions regarding DBS battery replacement should be individualized during this COVID-19 pandemic.

Citations

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Effects of COVID-19 on Synaptic and Neuronal Degeneration
Mohammed S. Alqahtani, Mohamed Abbas, Mohammad Y. Alshahrani, Khulud Alabdullh, Amjad Alqarni, Fawaz F. Alqahtani, Layal K. Jambi, Adnan Alkhayat
Brain Sciences.2023; 13(1): 131. CrossRef
Needs and Perceptions of Patients With Dystonia During the COVID-19 Pandemic: A Qualitative Framework Analysis of Survey Responses From Italy
Vittorio Rispoli, Matías Eduardo Díaz Crescitelli, Francesco Cavallieri, Francesca Antonelli, Stefano Meletti, Luca Ghirotto, Franco Valzania
Frontiers in Neurology.2022;[Epub] CrossRef
Parkinsonism hyperpyraexia syndrome in Parkinson's disease patients undergoing deep brain stimulation: An indirect consequence of COVID-19 lockdowns
Onanong Phokaewvarangkul, Sasivimol Virameteekul, Roongroj Bhidayasiri
Parkinsonism & Related Disorders.2021; 87: 39. CrossRef
An Investigation Into Miniaturised Closed-Loop DBS Devices
Dean M. Corva, Scott D. Adams, Kevin E. Bennet, Parastoo Hashemi, Michael Berk, Abbas Z. Kouzani
IEEE Transactions on Medical Robotics and Bionics.2021; 3(3): 671. CrossRef
Effects of COVID-19 Lockdown on Movement Disorders Patients With Deep Brain Stimulation: A Multicenter Survey
Carla Piano, Francesco Bove, Tommaso Tufo, Isabella Imbimbo, Danilo Genovese, Alessandro Stefani, Massimo Marano, Antonella Peppe, Livia Brusa, Rocco Cerroni, Francesco Motolese, Enrico Di Stasio, Marianna Mazza, Antonio Daniele, Alessandro Olivi, Paolo C
Frontiers in Neurology.2020;[Epub] CrossRef

Case Report

Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia: Jun Kyu Mun, Ah Reum Kim, Jong Hyeon Ahn, Minkyeong Kim, Jin Whan Cho, Jung-Il Lee, Kyung Rae Cho, Jinyoung Youn; J Mov Disord. 2020;13(2):154-158. Published online April 6, 2020; DOI: https://doi.org/10.14802/jmd.19087

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10 Citations

Abstract PDF Supplementary Material

Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. She was diagnosed with KMT2B- related dystonia using whole-exome sequencing with a heterozygous frameshift insertion of c.515dupC (p.T172fs) in the KMT2B gene. Oral medications and botulinum toxin injection were not effective. The dystonia markedly improved with bilateral pallidal DBS (the Burke-Fahn-Marsden Dystonia Rating Scale score was reduced from 30 to 5 on the dystonia movement scale and from 11 to 1 on the disability scale), and she could walk independently. From this case, we suggest that bilateral globus pallidus internus DBS can be an effective treatment option for patients with KMT2B-related generalized dystonia.

Citations

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GPi DBS treatment outcome in children with monogenic dystonia: a case series and review of the literature
Darko Chudy, Marina Raguž, Vladimira Vuletić, Valentino Rački, Eliša Papić, Nataša Nenadić Baranašić, Nina Barišić
Frontiers in Neurology.2023;[Epub] CrossRef
GPi‐DBS for KMT2B‐Associated Dystonia: Systematic Review and Meta‐Analysis
Roopa Rajan, Kanwaljeet Garg, Arti Saini, Divya M. Radhakrishnan, Miryam Carecchio, Binukumar BK, Manmohan Singh, Achal K. Srivastava
Movement Disorders Clinical Practice.2022; 9(1): 31. CrossRef
Dystonic Tremor in Adult-onset DYT-KMT2B
Rui Shimazaki, Jun Ikezawa, Ryoichi Okiyama, Kenko Azuma, Hiroyuki Akagawa, Kazushi Takahashi
Internal Medicine.2022; 61(15): 2357. CrossRef
Dystonia type 28 with early onset (DYT-KMT2B): a clinical case
V. A. Bulanova, M. A. Bykanova, N. А. Kuleva
Russian Journal of Child Neurology.2022; 17(3): 79. CrossRef
Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases
Chrysoula Marogianni, Despoina Georgouli, Katerina Dadouli, Panagiotis Ntellas, Dimitrios Rikos, Georgios M. Hadjigeorgiou, Cleanthi Spanaki, Georgia Xiromerisiou
Molecular Biology Reports.2021; 48(1): 371. CrossRef
Arching deep brain stimulation in dystonia types
Han-Joon Kim, Beomseok Jeon
Journal of Neural Transmission.2021; 128(4): 539. CrossRef
Deep Brain Stimulation for Pediatric Dystonia
Travis Larsh, Steve W. Wu, Sudhakar Vadivelu, Gerald A. Grant, Jennifer A. O'Malley
Seminars in Pediatric Neurology.2021; 38: 100896. CrossRef
Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech
Maria Abel, Robert Pfister, Iman Hussein, Fahd Alsalloum, Christina Onyinzo, Simon Kappl, Michael Zech, Walter Demmel, Martin Staudt, Manfred Kudernatsch, Steffen Berweck
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Radiofrequency ablation for DYT‐28 dystonia: short term follow‐up of three adult cases
Shiro Horisawa, Kenkou Azuma, Hiroyuki Akagawa, Taku Nonaka, Takakazu Kawamata, Takaomi Taira
Annals of Clinical and Translational Neurology.2020; 7(10): 2047. CrossRef
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Lucia Abela, Sony Malhotra, Wui K Chong, Dora Steel, Alba Sanchis-Juan, Adeline Ngoh, Natalie Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn D Applegate,
Brain.2020; 143(11): 3242. CrossRef

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