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Neurophysiology and Genetics of Neurological Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: closed (30 November 2024) | Viewed by 650

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Guest Editor
Physiology, Department of Biomedical Sciences, School of Health Sciences, International Hellenic University, 57400 Thessaloniki, Greece
Interests: Alzheimer's disease; mild cognitive impairment; cerebrospinal fluid; beta amyloid; neurodegenerative diseases; neurodegeneration; cognition disorders; event-related potentials; evoked potentials
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Special Issue Information

Dear Colleagues,

The diagnosis of neurological diseases is one of the most difficult challenges for medical professionals due to the complexity of the nervous system. Currently, more than 600 diseases have been identified including neurodegenerative diseases such as Alzheimer’s disease and Parkinson’s disease, cerebrovascular diseases, and others such as multiple sclerosis, migraine, neuroinfections, and neuromuscular diseases. According to a World Health Organisation report, nervous system diseases affect up to one billion people worldwide. Neurological diseases include those caused by single gene abnormalities, such as Huntington’s disease, spinocerebellar degeneration, and muscular dystrophy, and multifactorial diseases such as Alzheimer’s disease, Parkinson’s disease, and amyotrophic lateral sclerosis (ALS). 

In this Special Issue of “Neurophysiology and Genetics of Neurological Diseases”, we invite investigators to contribute original research, review articles, or case reports focusing on the role of neurophysiology and genetics in the diagnosis and treatment of neurological diseases.

Dr. Vasileios Papaliagkas
Guest Editor

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Keywords

  • neurophysiology
  • genetics
  • neurological diseases
  • Alzheimer’s disease
  • Parkinson’s disease

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Published Papers (1 paper)

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9 pages, 801 KiB  
Case Report
Rare Case with Pathogenic Variant in DHX16 Gene Causing Neuromuscular Disease and Oculomotor Anomalies
by Stefania Kalampokini, Dimitrios G. Goulis, Georgia Pepe, Stavrenia Koukoula, Antonis Frontistis, Maria Moschou, Marianthi Arnaoutoglou, Vasileios Papaliagkas and Vasilios K. Kimiskidis
Int. J. Mol. Sci. 2025, 26(6), 2812; https://doi.org/10.3390/ijms26062812 - 20 Mar 2025
Viewed by 365
Abstract
The DEAD/DExD/H-box RNA helicases are a group of RNA-binding proteins involved in the metabolism of mRNAs. They coordinate gene expression programs and play a role in cellular signaling, fate, and survival. We describe a case of a 36-year-old female with neuromuscular disease, sensorineural [...] Read more.
The DEAD/DExD/H-box RNA helicases are a group of RNA-binding proteins involved in the metabolism of mRNAs. They coordinate gene expression programs and play a role in cellular signaling, fate, and survival. We describe a case of a 36-year-old female with neuromuscular disease, sensorineural hearing loss, retinitis pigmentosa, and primary ovarian insufficiency harboring a heterozygous de novo missense pathogenic variant in the DEAH-box helicase 16 (DHX16) gene. This is the first case exhibiting a high intellectual level and the highest survival outcome so far. Eight previous cases of DHX16 disease-causing variant carriers have been described with common features, including muscle weakness with hypotonia, myopathy or peripheral neuropathy, sensorineural hearing loss, abnormal retinal findings, and infantile spasms or epilepsy. Increasing evidence associates RNA-binding proteins, including the DEAD/DExD/H-box helicase family genes, with neuropsychiatric or neurodevelopmental disorders. DHX16 genetic analysis should be considered early when diagnosing a child or young adult with muscular disease, severe hearing loss, and ocular anomalies. Full article
(This article belongs to the Special Issue Neurophysiology and Genetics of Neurological Diseases)
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