Journal of Movement Disorders

Original Article

Taltirelin Hydrate in Patients with Ataxia Due to Spinocerebellar Degeneration: Jin Whan Cho, Jee-Young Lee, Han-Joon Kim, Joong-Seok Kim, Kun-Woo Park, Seong-Min Choi, Chul Hyoung Lyoo, Seong-Beom Koh; Received May 28, 2024 Accepted October 18, 2024 Published online October 21, 2024; DOI: https://doi.org/10.14802/jmd.24127 [Accepted]

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Abstract PDF: Objective
We conducted this study to assess the efficacy and safety of taltirelin hydrate (TH) in spinocerebellar degeneration (SCD).
Methods
Patients were randomly assigned to either the taltirelin group (5 mg orally, twice daily) or the control group. The primary endpoint was changes in the Korean version of Scale for the Assessment and Rating of Ataxia (K-SARA) scores at 24 weeks. The secondary endpoints include changes in the K-SARA scores at 4 and 12 weeks, the Clinical Global Impression, Five-level version of the EuroQol five-dimensional questionnaire, Tinetti balance test and gait analysis at 4, 12 and 24 weeks.
Results
A total of 149 patients (hereditary:non-hereditary = 86:63) were enrolled. There were significant differences in changes in K-SARA scores at 24 weeks from baseline between the taltirelin group and the control group (-0.51 ± 2.79 versus 0.36 ± 2.62, respectively; p = 0.0321). Of the K-SARA items, both ‘Stance’ and ‘Speech disturbance’ had significantly lower subscores in the taltirelin group as compared with the control group (-0.04 ± 0.89 versus 0.23 ± 0.79 and -0.07 ± 0.74 versus 0.18 ± 0.67; p = 0.0270 and 0.0130, respectively). But there were no significant differences in changes in other secondary efficacy outcome measures at 24 weeks from baseline between the two treatment arms (p > 0.05).
Conclusion
Clinicians might consider using TH in the treatment of ataxia due to SCD.

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

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Abstract PDF Supplementary 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.

Review Article

Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution: Priya Jagota, Yoshikazu Ugawa, Zakiyah Aldaajani, Norlinah Mohamed Ibrahim, Hiroyuki Ishiura, Yoshiko Nomura, Shoji Tsuji, Cid Diesta, Nobutaka Hattori, Osamu Onodera, Saeed Bohlega, Amir Al-Din, Shen-Yang Lim, Jee-Young Lee, Beomseok Jeon, Pramod Kumar Pal, Huifang Shang, Shinsuke Fujioka, Prashanth Lingappa Kukkle, Onanong Phokaewvarangkul, Chin-Hsien Lin, Cholpon Shambetova, Roongroj Bhidayasiri; J Mov Disord. 2023;16(3):231-247. Published online June 13, 2023; DOI: https://doi.org/10.14802/jmd.23065

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Abstract PDF Supplementary Material

Clinical case studies and reporting are important to the discovery of new disorders and the advancement of medical sciences. Both clinicians and basic scientists play equally important roles leading to treatment discoveries for both cures and symptoms. In the field of movement disorders, exceptional observation of patients from clinicians is imperative, not just for phenomenology but also for the variable occurrences of these disorders, along with other signs and symptoms, throughout the day and the disease course. The Movement Disorders in Asia Task Force (TF) was formed to help enhance and promote collaboration and research on movement disorders within the region. As a start, the TF has reviewed the original studies of the movement disorders that were preliminarily described in the region. These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. We hope that the information provided will honor the original researchers and help us learn and understand how earlier neurologists and basic scientists together discovered new disorders and made advances in the field, which impact us all to this day.

Citations

Citations to this article as recorded by

Genetic heterogeneity of early onset Parkinson disease: The dilemma of clinico-genetic correlation
Roopa Rajan, Vikram V. Holla, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
Parkinsonism & Related Disorders.2024; 129: 107146. CrossRef

Case Report

Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids: Josefine Blume, Robert Weissert; J Mov Disord. 2017;10(1):59-61. Published online December 27, 2016; DOI: https://doi.org/10.14802/jmd.16050

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Abstract PDF Supplementary Material

Early motor symptoms of neurodegenerative diseases often appear in combination with psychiatric symptoms, such as depression or personality changes, and are in danger of being misdiagnosed as psychogenic in young patients. We present the case of a 32-year-old woman who presented with rapid-onset depression, followed by a hypokinetic movement disorder and cognitive decline during pregnancy. Genetic testing revealed a mutation in the colony-stimulating factor 1 receptor gene, which led to the diagnosis of hereditary diffuse leukoencephalopathy with spheroids. Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is probably an under-recognized disease. HDLS should be considered in patients with rapidly progressing parkinsonian symptoms and dementia accompanied by white matter lesions.

Citations

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Suspected Postpartum Depression Revealed to be CSF1R-Related Leukoencephalopathy: A Case Report
Masahiko Mikuni, Kazuhiro Horiuchi, Ayako Ishikura, Soichiro Kimura, Sho Masutani, Shinya Watanabe, Akihiro Mikami, Shuhei Ishikawa, Hisashi Narita, Ichiro Kusumi, Hidenao Sasaki
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Neuroimaging phenotypes of CSF1R‐related leukoencephalopathy: Systematic review, meta‐analysis, and imaging recommendations
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Journal of Internal Medicine.2022; 291(3): 269. CrossRef
A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature
Jie Chen, Shiying Luo, Ning Li, Huimin Li, Jinming Han, Li Ling
International Journal of General Medicine.2020; Volume 13: 1613. CrossRef
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Review Articles

Applications of CRISPR/Cas9 for Gene Editing in Hereditary Movement Disorders: Wooseok Im, Jangsup Moon, Manho Kim; J Mov Disord. 2016;9(3):136-143. Published online September 21, 2016; DOI: https://doi.org/10.14802/jmd.16029

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Abstract PDF

Gene therapy is a potential therapeutic strategy for treating hereditary movement disorders, including hereditary ataxia, dystonia, Huntington’s disease, and Parkinson’s disease. Genome editing is a type of genetic engineering in which DNA is inserted, deleted or replaced in the genome using modified nucleases. Recently, clustered regularly interspaced short palindromic repeat/CRISPR associated protein 9 (CRISPR/Cas9) has been used as an essential tool in biotechnology. Cas9 is an RNA-guided DNA endonuclease enzyme that was originally associated with the adaptive immune system of Streptococcus pyogenes and is now being utilized as a genome editing tool to induce double strand breaks in DNA. CRISPR/Cas9 has advantages in terms of clinical applicability over other genome editing technologies such as zinc-finger nucleases and transcription activator-like effector nucleases because of easy in vivo delivery. Here, we review and discuss the applicability of CRISPR/Cas9 to preclinical studies or gene therapy in hereditary movement disorders.

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Crispr-a novel approach towards a fortified immune system
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Gene Therapy Approach with an Emphasis on Growth Factors: Theoretical and Clinical Outcomes in Neurodegenerative Diseases
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Veterinary and Animal Science.2022; 16: 100241. CrossRef
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CRISPR/Cas9 Technology as a Modern Genetic Manipulation Tool for Recapitulating of Neurodegenerative Disorders in Large Animal Models
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La edición del ADN
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MicroRNAs in Experimental Models of Movement Disorders: Soon-Tae Lee, Manho Kim; J Mov Disord. 2011;4(2):55-59.; DOI: https://doi.org/10.14802/jmd.11011

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49 Download
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Abstract PDF

MicroRNAs (miRNAs) are small RNAs comprised of 20–25 nucleotides that regulates gene expression by inducing translational repression or degradation of target mRNA. The importance of miRNAs as a mediator of disease pathogenesis and therapeutic targets is rapidly emerging in neuroscience, as well as oncology, immunology, and cardiovascular diseases. In Parkinson’s disease and related disorders, multiple studies have identified the implications of specific miRNAs and the polymorphisms of miRNA target genes during the disease pathogenesis. With a focus on Parkinson’s disease, spinocerebellar ataxia, hereditary spastic paraplegia, and Huntington’s disease, this review summarizes and interprets the observations, and proposes future research topics in this field.

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