Special Issue "Genetic Research in Movement Disorders"

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Neurogenomics".

Deadline for manuscript submissions: closed (20 May 2023) | Viewed by 763

Special Issue Editor

Professor at School of Biological Sciences, University of the Punjab, Canal Rd, Quaid-i-Azam Campus, Lahore, Punjab 54890, Pakistan
Interests: genetics; movement disorders; skeletal dysplasia; hearing loss; neurodevelopmental disorders

Special Issue Information

Dear Colleagues, 

Movement disorders and related syndromes affect millions of people globally. They are neurological diseases and are characterized by either excessive or limited movement of any of different body parts. These devastating conditions reduce the quality of life, and some of them can make a person wheelchair bound. This Special Issue aims to include reviews and original research findings on molecular characterization or mechanisms of disease in movement disorders. Manuscripts which describe genetics of disorders of ataxic, sensory, hemiplegic, spastic diplegic, neuropathic, myopathic, Parkinsonian, and choreiform gaits are especially sought. Research papers utilizing gene editing in cell lines and animal models for investigation of disease mechanisms or devising therapies are also encouraged. We do not intend to to include manuscripts focused solely on clinical descriptions of the movement disorders.

Prof. Dr. Sadaf Naz
Guest Editor

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. Genes 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 2400 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

  • genomics of movement disorders
  • animal models for movement disorders
  • ataxia
  • chorea
  • dystonia
  • gait disorders
  • myoclonus
  • Parkinson disorder
  • spastic paraplegia
  • tardive dyskinesia
  • tics
  • tremors

Published Papers (1 paper)

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Research

Article
The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant
Genes 2023, 14(4), 822; https://doi.org/10.3390/genes14040822 - 29 Mar 2023
Viewed by 609
Abstract
Biallelic variants in the mitochondrial form of the tryptophanyl-tRNA synthetases (WARS2) can cause a neurodevelopmental disorder with movement disorders including early-onset tremor–parkinsonism syndrome. Here, we describe four new patients, who all presented at a young age with a tremor–parkinsonism syndrome and [...] Read more.
Biallelic variants in the mitochondrial form of the tryptophanyl-tRNA synthetases (WARS2) can cause a neurodevelopmental disorder with movement disorders including early-onset tremor–parkinsonism syndrome. Here, we describe four new patients, who all presented at a young age with a tremor–parkinsonism syndrome and responded well to levodopa. All patients carry the same recurrent, hypomorphic missense variant (NM_015836.4: c.37T>G; p.Trp13Gly) either together with a previously described truncating variant (NM_015836.4: c.797Cdel; p.Pro266ArgfsTer10), a novel truncating variant (NM_015836.4: c.346C>T; p.Gln116Ter), a novel canonical splice site variant (NM_015836.4: c.349-1G>A), or a novel missense variant (NM_015836.4: c.475A>C, p.Thr159Pro). We investigated the mitochondrial function in patients and found increased levels of mitochondrially encoded cytochrome C Oxidase II as part of the mitochondrial respiratory chain as well as decreased mitochondrial integrity and branching. Finally, we conducted a literature review and here summarize the broad phenotypical spectrum of reported WARS2-related disorders. In conclusion, WARS2-related disorders are diagnostically challenging diseases due to the broad phenotypic spectrum and the disease relevance of a relatively common missense change that is often filtered out in a diagnostic setting since it occurs in ~0.5% of the general European population. Full article
(This article belongs to the Special Issue Genetic Research in Movement Disorders)
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