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Life
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Dystonia and Related Disorders: From Bench to Bedside
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Dystonia and Related Disorders: From Bench to Bedside

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Medical Research".

Deadline for manuscript submissions: closed (21 November 2021) | Viewed by 22322

Special Issue Editors

Dr. Ryoma Morigaki

E-Mail Website
Guest Editor
Department of Advanced Brain Research, Institute of Biomedical Sciences, Graduate School of Medicine, Tokushima University, Tokushima 770-8503, Japan
Interests: basal ganglia; striatum; striosome and matrix; deep brain stimulation; Parkinson’s disease; dystonia
Special Issues, Collections and Topics in MDPI journals
Dr. Ryosuke Miyamoto

E-Mail Website
Guest Editor
Institute of Biomedical Sciences, Tokushima University, Tokushima 770-8501, Japan
Interests: movement disorders; dystonia; genetics

Special Issue Information

Dear Colleagues,

Dystonia is a neurological syndrome that manifests as repetitive patterned twisting movements or sustained muscle contractions. The precise cause of dystonia remains unknown, and there are no specific diagnostic tests. However, an increasing number of causative genes have been identified via next-generation sequencing, helping to steadily uncover the molecular basis of dystonia. Moreover, efficacy in deep brain stimulation therapy sheds light on dystonia as a disorder in the cortico-striato-pallido-thalamo-cortical feedback loop. Recent progress in human neuroimaging study and basic research using optogenetics suggests cerebellar inclusion in dystonia’s pathogenesis. Emerging new technologies are quite useful for clarifying the unknown pathogenesis of dystonia and related disorders.

The goal of this Special Issue is to collect review articles and basic, clinical, or epidemiological research studies regarding dystonia and related disorders that will elucidate the current status of our understanding of this disease and promote future development in its treatment.

Dr. Ryoma Morigaki
Dr. Ryosuke Miyamoto
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Life is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • dystonia
  • dystonia-related disorders
  • movement disorders
  • clinical symptoms
  • deep brain stimulation
  • neuromodulation
  • new devices
  • genomics
  • proteomics
  • neuroanatomy
  • animal model
  • basal ganglia circuitry
  • striosome and matrix

Published Papers (7 papers)

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Editorial

Jump to: Research, Review, Other

3 pages, 179 KiB  
Editorial
Dystonia: Still a Mysterious Syndrome
by Ryoma Morigaki and Ryosuke Miyamoto
Life 2022, 12(7), 989; https://doi.org/10.3390/life12070989 - 04 Jul 2022
Cited by 1 | Viewed by 1426
Abstract
The diagnosis of dystonia is sometimes complicated due to its many clinical manifestations, causes, and the lack of specific diagnostic examinations or simple algorithms [...] Full article
(This article belongs to the Special Issue Dystonia and Related Disorders: From Bench to Bedside)

Research

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10 pages, 276 KiB  
Article
Psychological Traits and Behavioural Influences in Patients with Dystonia—An Observational Cohort Study in a Romanian Neurology Department
by Eugenia Irene Davidescu, Irina Odajiu, Delia Tulbă, Iulia Mitrea, Camelia Cucu and Bogdan Ovidiu Popescu
Life 2021, 11(7), 612; https://doi.org/10.3390/life11070612 - 24 Jun 2021
Cited by 2 | Viewed by 2034
Abstract
(1) Background: Emerging evidence indicates that non-motor symptoms significantly influence the quality of life in dystonic patients. Therefore, it is essential to evaluate their psychological characteristics and personality traits. (2) Methods: Subjects with idiopathic dystonia and a matched control group were enrolled in [...] Read more.
(1) Background: Emerging evidence indicates that non-motor symptoms significantly influence the quality of life in dystonic patients. Therefore, it is essential to evaluate their psychological characteristics and personality traits. (2) Methods: Subjects with idiopathic dystonia and a matched control group were enrolled in this prospective observational cohort study. Inclusion criteria for patient group included idiopathic dystonia diagnosis, evolution exceeding 1 year, and signed informed consent. Inclusion criteria for the control group included lack of neurological comorbidities and signed informed consent. All subjects completed the DECAS Personality Inventory along with an additional form of demographic factors. Data (including descriptive statistics and univariate and multivariate analysis) were analyzed with SPSS. (3) Results: In total, 95 participants were included, of which 57 were in the patient group. Females prevailed (80%), and the mean age was 54.64 ± 12.8 years. The most frequent clinical features of dystonia were focal distribution (71.9%) and progressive disease course (94.73%). The patients underwent regular treatment with botulinum toxin (85.95%). In addition, patients with dystonia obtained significantly higher openness scores than controls, even after adjusting for possible confounders (p = 0.006). Personality traits were also different between the two groups, with patients more often being fantasists (p = 0.007), experimenters (p = 0.022), sophists (p = 0.040), seldom acceptors (p = 0.022), and pragmatics (p = 0.022) than control subjects. (4) Conclusion: Dystonic patients tend to have different personality profiles compared to control subjects, which should be taken into consideration by the treating neurologist. Full article
(This article belongs to the Special Issue Dystonia and Related Disorders: From Bench to Bedside)
7 pages, 1588 KiB  
Article
Long-Term Follow-Up of 12 Patients Treated with Bilateral Pallidal Stimulation for Tardive Dystonia
by Hiroshi Koyama, Hideo Mure, Ryoma Morigaki, Ryosuke Miyamoto, Kazuhisa Miyake, Taku Matsuda, Koji Fujita, Yuishin Izumi, Ryuji Kaji, Satoshi Goto and Yasushi Takagi
Life 2021, 11(6), 477; https://doi.org/10.3390/life11060477 - 24 May 2021
Cited by 6 | Viewed by 2234
Abstract
Tardive dystonia (TD) is a side effect of prolonged dopamine receptor antagonist intake. TD can be a chronic disabling movement disorder despite medical treatment. We previously demonstrated successful outcomes in six patients with TD using deep brain stimulation (DBS); however, more patients are [...] Read more.
Tardive dystonia (TD) is a side effect of prolonged dopamine receptor antagonist intake. TD can be a chronic disabling movement disorder despite medical treatment. We previously demonstrated successful outcomes in six patients with TD using deep brain stimulation (DBS); however, more patients are needed to better understand the efficacy of DBS for treating TD. We assessed the outcomes of 12 patients with TD who underwent globus pallidus internus (GPi) DBS by extending the follow-up period of previously reported patients and enrolling six additional patients. All patients were refractory to pharmacotherapy and were referred for surgical intervention by movement disorder neurologists. In all patients, DBS electrodes were implanted bilaterally within the GPi under general anesthesia. The mean ages at TD onset and surgery were 39.2 ± 12.3 years and 44.6 ± 12.3 years, respectively. The Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS) performed the preoperative and postoperative evaluations. The average BFMDRS improvement rate at 1 month postoperatively was 75.6 ± 27.6% (p < 0.001). Ten patients were assessed in the long term (78.0 ± 50.4 months after surgery), and the long-term BFMDRS improvement was 78.0 ± 20.4%. Two patients responded poorly to DBS. Both had a longer duration from TD onset to surgery and older age at surgery. A cognitive and psychiatric decline was observed in the oldest patients, while no such decline ware observed in the younger patients. In most patients with TD, GPi-DBS could be a beneficial therapeutic option for long-term relief of TD. Full article
(This article belongs to the Special Issue Dystonia and Related Disorders: From Bench to Bedside)
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Review

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28 pages, 2215 KiB  
Review
Classification of Dystonia
by Lazzaro di Biase, Alessandro Di Santo, Maria Letizia Caminiti, Pasquale Maria Pecoraro and Vincenzo Di Lazzaro
Life 2022, 12(2), 206; https://doi.org/10.3390/life12020206 - 29 Jan 2022
Cited by 13 | Viewed by 8251
Abstract
Dystonia is a hyperkinetic movement disorder characterized by abnormal movement or posture caused by excessive muscle contraction. Because of its wide clinical spectrum, dystonia is often underdiagnosed or misdiagnosed. In clinical practice, dystonia could often present in association with other movement disorders. An [...] Read more.
Dystonia is a hyperkinetic movement disorder characterized by abnormal movement or posture caused by excessive muscle contraction. Because of its wide clinical spectrum, dystonia is often underdiagnosed or misdiagnosed. In clinical practice, dystonia could often present in association with other movement disorders. An accurate physical examination is essential to describe the correct phenomenology. To help clinicians reaching the proper diagnosis, several classifications of dystonia have been proposed. The current classification consists of axis I, clinical characteristics, and axis II, etiology. Through the application of this classification system, movement disorder specialists could attempt to correctly characterize dystonia and guide patients to the most effective treatment. The aim of this article is to describe the phenomenological spectrum of dystonia, the last approved dystonia classification, and new emerging knowledge. Full article
(This article belongs to the Special Issue Dystonia and Related Disorders: From Bench to Bedside)
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17 pages, 1014 KiB  
Review
Dystonia and Cerebellum: From Bench to Bedside
by Ryoma Morigaki, Ryosuke Miyamoto, Taku Matsuda, Kazuhisa Miyake, Nobuaki Yamamoto and Yasushi Takagi
Life 2021, 11(8), 776; https://doi.org/10.3390/life11080776 - 31 Jul 2021
Cited by 9 | Viewed by 3472
Abstract
Dystonia pathogenesis remains unclear; however, findings from basic and clinical research suggest the importance of the interaction between the basal ganglia and cerebellum. After the discovery of disynaptic pathways between the two, much attention has been paid to the cerebellum. Basic research using [...] Read more.
Dystonia pathogenesis remains unclear; however, findings from basic and clinical research suggest the importance of the interaction between the basal ganglia and cerebellum. After the discovery of disynaptic pathways between the two, much attention has been paid to the cerebellum. Basic research using various dystonia rodent models and clinical studies in dystonia patients continues to provide new pieces of knowledge regarding the role of the cerebellum in dystonia genesis. Herein, we review basic and clinical articles related to dystonia focusing on the cerebellum, and clarify the current understanding of the role of the cerebellum in dystonia pathogenesis. Given the recent evidence providing new hypotheses regarding dystonia pathogenesis, we discuss how the current evidence answers the unsolved clinical questions. Full article
(This article belongs to the Special Issue Dystonia and Related Disorders: From Bench to Bedside)
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Other

6 pages, 201 KiB  
Perspective
Deep Brain Stimulation and Hypoxemic Perinatal Encephalopathy: State of Art and Perspectives
by Gaëtan Poulen, Emilie Chan-Seng, Emily Sanrey and Philippe Coubes
Life 2021, 11(6), 481; https://doi.org/10.3390/life11060481 - 25 May 2021
Cited by 1 | Viewed by 1868
Abstract
Cerebral palsy (CP) is a heterogeneous group of non-progressive syndromes with lots of clinical variations due to the extent of brain damages and etiologies. CP is majorly defined by dystonia and spasticity. The treatment of acquired dystonia in CP is very difficult. Many [...] Read more.
Cerebral palsy (CP) is a heterogeneous group of non-progressive syndromes with lots of clinical variations due to the extent of brain damages and etiologies. CP is majorly defined by dystonia and spasticity. The treatment of acquired dystonia in CP is very difficult. Many pharmacological treatments have been tried and surgical treatment consists of deep brain stimulation (continuous electrical neuromodulation) of internal globus pallidus (GPi). A peculiar cause of CP is neonatal encephalopathy due to an anoxic event in the perinatal period. Many studies showed an improvement of dystonia in CP patients with bilateral GPi DBS. However, it remains a variability in the range of 1% to 50%. Published case-series concerned mainly small population with a majority of adult patients. Selection of patients according to the clinical pattern, to the brain lesions observed on classical imaging and to DTI is the key of a high success rate of DBS in children with perinatal hypoxemic encephalopathy. Only a large retrospective study with a high number of patients in a homogeneous pediatric population with a long-term follow-up or a prospective multicenter trial investigation could answer with a high degree of certitude of the real interest of this therapeutic in children with hypoxemic perinatal encephalopathy. Full article
(This article belongs to the Special Issue Dystonia and Related Disorders: From Bench to Bedside)
7 pages, 4720 KiB  
Case Report
Transcranial Magnetic Resonance-Guided Focused Ultrasound in X-Linked Dystonia-Parkinsonism
by Roland Dominic G. Jamora, Wei-Chieh Chang and Takaomi Taira
Life 2021, 11(5), 392; https://doi.org/10.3390/life11050392 - 26 Apr 2021
Cited by 11 | Viewed by 1966
Abstract
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative condition found among males with maternal ancestry from Panay Island, Philippines. The treatment options are limited. We report on our experience of three XDP patients who underwent transcranial magnetic resonance-guided focused ultrasound (tcMRgFUS) pallidothalamic tractotomy. The three [...] Read more.
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative condition found among males with maternal ancestry from Panay Island, Philippines. The treatment options are limited. We report on our experience of three XDP patients who underwent transcranial magnetic resonance-guided focused ultrasound (tcMRgFUS) pallidothalamic tractotomy. The three patients were all genetically confirmed XDP, with a mean XDP-Movement Disorder Society of the Philippines (MDSP) Scale score of 68.7/200. All patients were on stable doses of their oral medications and their last botulinum toxin injection was 12 months prior to study. Two patients complained of moderate to severe arm pain 2–7 months after the procedure. There was an overall improvement in the XDP-MDSP Scale score of 36.2% (18.7 vs. 15) at 6 months and 30.1% (68.7 vs. 45.5) at 1 year. Notably, there was worsening of the nonmotor subscale (part IIIB, nonbehavioral aspect) by 350% at 1 year. While these numbers are encouraging, there is a need to do a larger study on the safety and efficacy of tcMRgFUS on XDP. Full article
(This article belongs to the Special Issue Dystonia and Related Disorders: From Bench to Bedside)
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