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Biomarkers and Novel Therapeutic Approaches for Movement Disorders: State-of-the-Art, Gaps and Perspectives

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A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Neuromuscular and Movement Disorders".

Deadline for manuscript submissions: closed (25 August 2021) | Viewed by 18325

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Special Issue Editors

Dr. Lorenzo Rocchi

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Guest Editor

Department of Clinical and Movement Neurosciences, University College London, London WC1E 6BT, UK
Interests: movement disorders; dystonia; neurophysiology; electrophysiology; electroencephalography; transcranial magnetic stimulation

Dr. Anna Latorre

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Guest Editor

Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology; University College London, London, UK
Interests: movement disorders; dystonia; myoclonus; neurophysiology; transcranial magnetic stimulation

Dr. Daniele Belvisi

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IRCCS Neuromed, via Atinense 18, 86077, Pozzilli (IS), Italy; Department of Human Neurosciences, Sapienza University of Rome, Viale dell’ Università 30, 00185, Rome, Italy
Interests: movement disorders; Parkinson’s disease; dystonia; neurophysiology; transcranial magnetic stimulation

Special Issue Information

Dear Colleagues,

The diagnosis of movement disorders is mostly based on clinical inspection and recognition of the phenomenology observed. Although of clear practical value, this approach has several limitations. For instance, it might delay the diagnosis of hypokinetic degenerative disorders, which can have similar presenting features, and it does not always guide towards the correct aetiology. Additionally, it can be difficult to discriminate different hyperkinetic movement disorders on clinical grounds only. For these reasons, in recent decades, many researchers have attempted to identify in vivo markers to accurately differentiate various movement disorders, as well as to understand their underlying pathophysiological mechanisms. Biomarkers can be different in nature, from clinical signs, to characteristic patterns of data obtained from biological samples, as well as from imaging and electrophysiological techniques. The utility of biomarkers ranges from differential diagnosis to monitoring disease progression and assessing response to therapies.

Research in the field of biomarkers has progressed in parallel to that for new therapeutic approaches, which has largely been focussed on the development of disease-modifying treatments, such as neuroprotective drugs and add-on therapies for resistant symptoms.

This Special Issue of Brain Sciences aims at presenting a collection of studies detailing the most recent advancements in the use of diagnostic biomarkers and novel or foreseeable treatments for movement disorders. Ultimately, we would like to share a vision of how the diagnosis, monitoring and treatment of movement disorders will change in the coming years. Authors are invited to submit cutting-edge research and reviews that address a broad range of topics related to promising diagnostic biomarkers and treatments for movement disorders. In particular, we aim to discuss tools that could be potentially become of standard use in the forthcoming decades.

Dr. Lorenzo Rocchi
Dr. Anna Latorre
Dr. Daniele Belvisi
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. Brain Sciences 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 2200 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

movement disorders
Parkinson’s disease
biomarkers
diagnosis
therapy

Published Papers (4 papers)

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Research

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15 pages, 2704 KiB

Open AccessArticle

Screening of Parkinson’s Disease Using Geometric Features Extracted from Spiral Drawings

by Jay Chandra, Siva Muthupalaniappan, Zisheng Shang, Richard Deng, Raymond Lin, Irina Tolkova, Dignity Butts, Daniel Sul, Sammer Marzouk, Soham Bose, Alexander Chen, Anushka Bhaskar, Sreekar Mantena and Daniel Z. Press

Brain Sci. 2021, 11(10), 1297; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci11101297 - 29 Sep 2021

Cited by 7 | Viewed by 6358

Abstract

Conventional means of Parkinson’s Disease (PD) screening rely on qualitative tests typically administered by trained neurologists. Tablet technologies that enable data collection during handwriting and drawing tasks may provide low-cost, portable, and instantaneous quantitative methods for high-throughput PD screening. However, past efforts to use data from tablet-based drawing processes to distinguish between PD and control populations have demonstrated only moderate classification ability. Focusing on digitized drawings of Archimedean spirals, the present study utilized data from the open-access ParkinsonHW dataset to improve existing PD drawing diagnostic pipelines. Random forest classifiers were constructed using previously documented features and highly-predictive, newly-proposed features that leverage the many unique mathematical characteristics of the Archimedean spiral. This approach yielded an AUC of 0.999 on the particular dataset we tested on, and more importantly identified interpretable features with good promise for generalization across diverse patient cohorts. It demonstrated the potency of mathematical relationships inherent to the drawing shape and the usefulness of sparse feature sets and simple models, which further enhance interpretability, in the face of limited sample size. The results of this study also inform suggestions for future drawing task design and data analytics (feature extraction, shape selection, task diversity, drawing templates, and data sharing). Full article

(This article belongs to the Special Issue Biomarkers and Novel Therapeutic Approaches for Movement Disorders: State-of-the-Art, Gaps and Perspectives)

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12 pages, 1577 KiB

Open AccessArticle

Blood Serum Cytokines in Patients with Subacute Spinal Cord Injury: A Pilot Study to Search for Biomarkers of Injury Severity

by Sergei Ogurcov, Iliya Shulman, Ekaterina Garanina, Davran Sabirov, Irina Baichurina, Maxim Kuznetcov, Galina Masgutova, Alexander Kostennikov, Albert Rizvanov, Victoria James and Yana Mukhamedshina

Brain Sci. 2021, 11(3), 322; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci11030322 - 04 Mar 2021

Cited by 15 | Viewed by 2704

Abstract

Background. Despite considerable interest in the search for a spinal cord injury (SCI) therapy, there is a critical need to develop a panel of diagnostic biomarkers to determine injury severity. In this regard, there is a requirement for continuing research into the fundamental processes of neuroinflammatory and autoimmune reactions in SCI, identifying changes in the expression of cytokines. Methods. In this pilot study, an extended multiplex analysis of the cytokine profiles in the serum of patients at 2 weeks post-SCI (n = 28) was carried out, together with an additional assessment of neuron-specific enolase (NSE) and vascular endothelial growth factor (VEGF) levels by enzyme-linked immunosorbent assay. A total of 16 uninjured subjects were enrolled as controls. Results. The data obtained showed a large elevation of IFNγ (>52 fold), CCL27 (>13 fold), and CCL26 (>8 fold) 2 weeks after SCI. The levels of cytokines CXCL5, CCL11, CXCL11, IL10, TNFα, and MIF were different between patients with baseline American Spinal Injury Association Impairment Scale (AIS) grades of A or B, whilst IL2 (>2 fold) and MIP-3a (>6 fold) were significantly expressed in the cervical and thoracic regions. There was a trend towards increasing levels of NSE. However, the difference in NSE was lost when the patient set was segregated based on AIS group. Conclusions. Our pilot research demonstrates that serum concentrations of cytokines can be used as an affordable and rapid detection tool to accurately stratify SCI severity in patients. Full article

(This article belongs to the Special Issue Biomarkers and Novel Therapeutic Approaches for Movement Disorders: State-of-the-Art, Gaps and Perspectives)

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11 pages, 1825 KiB

Open AccessArticle

Facilitatory rTMS over the Supplementary Motor Cortex Impedes Gait Performance in Parkinson Patients with Freezing of Gait

by Florian Brugger, Regina Wegener, Florent Baty, Julia Walch, Marie T. Krüger, Stefan Hägele-Link, Stephan Bohlhalter and Georg Kägi

Brain Sci. 2021, 11(3), 321; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci11030321 - 03 Mar 2021

Cited by 6 | Viewed by 2108

Abstract

Freezing of gait (FOG) in Parkinson’s disease (PD) occurs frequently in situations with high environmental complexity. The supplementary motor cortex (SMC) is regarded as a major network node that exerts cortical input for motor control in these situations. We aimed at assessing the impact of single-session (excitatory) intermittent theta burst stimulation (iTBS) of the SMC on established walking during FOG provoking situations such as passing through narrow spaces and turning for directional changes. Twelve PD patients with FOG underwent two visits in the off-medication state with either iTBS or sham stimulation. At each visit, spatiotemporal gait parameters were measured during walking without obstacles and in FOG-provoking situations before and after stimulation. When patients passed through narrow spaces, decreased stride time along with increased stride length and walking speed (i.e., improved gait) was observed after both sham stimulation and iTBS. These effects, particularly on stride time, were attenuated by real iTBS. During turning, iTBS resulted in decreased stride time along with unchanged stride length, a constellation compatible with increased stepping frequency. The observed iTBS effects are regarded as relative gait deterioration. We conclude that iTBS over the SMC increases stepping frequency in PD patients with FOG, particularly in FOG provoking situations. Full article

(This article belongs to the Special Issue Biomarkers and Novel Therapeutic Approaches for Movement Disorders: State-of-the-Art, Gaps and Perspectives)

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8 pages, 821 KiB

Open AccessEditor’s ChoicePerspective

Restless Legs Syndrome: Known Knowns and Known Unknowns

by Elena Antelmi, Lorenzo Rocchi, Anna Latorre, Daniele Belvisi, Francesca Magrinelli, Kailash P. Bhatia and Michele Tinazzi

Brain Sci. 2022, 12(1), 118; https://0-doi-org.brum.beds.ac.uk/10.3390/brainsci12010118 - 16 Jan 2022

Cited by 14 | Viewed by 6064

Abstract

Although restless legs syndrome (RLS) is a common neurological disorder, it remains poorly understood from both clinical and pathophysiological perspectives. RLS is classified among sleep-related movement disorders, namely, conditions characterized by simple, often stereotyped movements occurring during sleep. However, several clinical, neurophysiological and neuroimaging observations question this view. The aim of the present review is to summarize and query some of the current concepts (known knowns) and to identify open questions (known unknowns) on RLS pathophysiology. Based on several lines of evidence, we propose that RLS should be viewed as a disorder of sensorimotor interaction with a typical circadian pattern of occurrence, possibly arising from neurochemical dysfunction and abnormal excitability in different brain structures. Full article

(This article belongs to the Special Issue Biomarkers and Novel Therapeutic Approaches for Movement Disorders: State-of-the-Art, Gaps and Perspectives)

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