Advances in the Molecular Genetics of Neurological Disorders

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Molecular and Cellular Neuroscience".

Deadline for manuscript submissions: closed (30 September 2024) | Viewed by 1220

Special Issue Editors


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Guest Editor
1. Division of Neurology, Walter Cantidio University Hospital, Federal University of Ceara, Fortaleza 60430-372, CE, Brazil
2. Center of Health Sciences, State University of Ceará, Fortaleza 60714-903, CE, Brazil
Interests: neurogenetic disorders; movement disorders
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Guest Editor
1. Division of Neurology, Walter Cantidio University Hospital, Federal University of Ceara, Fortaleza 60430-372, CE, Brazil
2. Center of Health Sciences, State University of Ceará, Fortaleza 60714-903, CE, Brazil
Interests: neurology; neurogenetics; genetics; neuroimmunology; neuroimaging

Special Issue Information

Dear Colleagues,

Recent decades have seen an increase in the study of the molecular genetic basis of neurological diseases, with recent advances in the techniques and strategies involving genetic markers in neurodegenerative as well as mendelian neurogenetic diseases.

Many neurological diseases have an important genetic basis, either as risk-determining alleles or causative Mendelian variants, and over one-third of Mendelian genetic diseases present phenotypes with significant neurological manifestations. Greater knowledge of the genes and genetic variants involved in neurogenetic diseases makes the development of new treatment strategies for this group of diseases more feasible. Of note, recent advances in gene therapy provide hope for more effective treatments for some of these diseases. The description of neurological phenotypes and the reporting of novel variants also make new diagnostic strategies for these diseases, as well as better genetic counseling, possible. Greater knowledge of the molecular genetic basis of non-mendelian neurodegenerative diseases, such as Parkinson´s disease and Alzheimer’s disease, allow for the development of prognostic tools and possibly of new treatment strategies. This Special Issue aims to highlight recent Advances in the Molecular Genetics of Neurological Disorders, focusing on diagnosis, prognosis and treatment approaches. 

We invite original works as well as review papers on the following areas:

  • Characterization of phenotypes in neurogenetic diseases through case series, natural history studies or review papers;
  • Molecular genetics strategies for diagnosis, prognosis or treatment of neurodegenerative diseases;
  • Describe novel pathogenic variants with characteristic findings;
  • Diagnostic or treatment strategies for neurogenetic diseases.

Dr. Pedro Braga-Neto
Dr. Paulo Ribeiro Nóbrega
Guest Editors

Manuscript Submission Information

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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

  • neurogenetic disorders
  • Parkinson’s disease
  • Alzheimer's disease
  • neurodegenerative diseases

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Published Papers (1 paper)

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Review

15 pages, 748 KiB  
Review
Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention
by Antonio Edvan Camelo-Filho, Pedro Lucas Grangeiro Sá Barreto Lima, Francisco Luciano Honório Barreto Cavalcante, Oliver Reiks Miyajima, Carolina Figueiredo Santos, Rodrigo Fagundes da Rosa, André Luiz Santos Pessoa, Pedro Braga-Neto and Paulo Ribeiro Nóbrega
Brain Sci. 2024, 14(11), 1159; https://doi.org/10.3390/brainsci14111159 - 20 Nov 2024
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Abstract
Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disorder caused by mutations in the CYP27A1 gene, leading to cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is an underrecognized feature with considerable variability in clinical presentation and neurophysiological findings in CTX. This review [...] Read more.
Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disorder caused by mutations in the CYP27A1 gene, leading to cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is an underrecognized feature with considerable variability in clinical presentation and neurophysiological findings in CTX. This review assesses the prevalence, clinical manifestations, and diagnostic methodologies of polyneuropathy in CTX, exploring its underlying mechanisms and potential treatment outcomes. A literature review was conducted using PubMed, Embase, and the Virtual Health Library databases with search terms related to CTX and polyneuropathy. A total of 892 articles were initially identified, with 59 selected for in-depth analysis. The review focused on studies examining peripheral nerve involvement in CTX, including nerve conduction studies, electromyography, and nerve ultrasound. Polyneuropathy in CTX was observed in 50% to 77.7% of patients across multiple case series. Neurophysiological findings varied, with reports of axonal, demyelinating, and mixed polyneuropathies. Clinical presentation included lower limb atrophy, pes cavus, and distal weakness, with sensory symptoms less frequently reported. Treatment with chenodeoxycholic acid (CDCA) showed potential in improving nerve conduction parameters, although the response was variable and dependent on the timing of intervention. Polyneuropathy in CTX presents significant diagnostic challenges due to its heterogeneous presentation and varying neurophysiological findings. Early recognition and intervention are crucial for improving patient outcomes. Peripheral nerve ultrasound is a promising diagnostic tool, complementing traditional neurophysiological assessments. Further research is needed to standardize protocols and explore the full therapeutic potential of CDCA in managing CTX-related polyneuropathy. Full article
(This article belongs to the Special Issue Advances in the Molecular Genetics of Neurological Disorders)
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