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Biomedicines
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Early Diagnosis Research of Inherited Neuropathies
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Early Diagnosis Research of Inherited Neuropathies

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Neurobiology and Clinical Neuroscience".

Deadline for manuscript submissions: closed (16 November 2023) | Viewed by 9214

Special Issue Editors

Prof. Dr. Frédéric Favreau

E-Mail Website
Guest Editor
1. University of Limoges, Faculté de Médecine, EA6309, Limoges, France
2. Service de Biochimie et Génétique Moléculaire, Limoges Hospital, Limoges, France
Interests: inherited neuropathies; charcot marie tooth disease; mitochondrial disorders; oxidative stress
Dr. Anne-Sophie Lia

E-Mail Website
Guest Editor
1. University of Limoges, Faculté de Médecine, EA6309 Limoges, France
2. Service de Biochimie et Génétique Moléculaire, Limoges Hospital, Limoges, France
Interests: inherited neuropathies; diagnosis; bioinformatics; structural variations; hIPSc

Special Issue Information

Dear Colleagues,

The diagnosis of inherited neuropathies has been largely improved in the last decade. However, numerous patients are still undiagnosed, inducing a lack of adapted clinical care without therapeutic hopes. While single-nucleotide variants and small indel mutations are now easily detected, structural variations, for instance, are still often underdiagnosed. In this issue, we would like to report new technologies, but also new bioinformatics tools developed recently and verified experimentally, to improve the diagnosis of inherited neuropathies. Structural variations, which are new kinds of mutations currently described to be responsible for neuropathies, could be an interesting aspect of this issue. Articles presenting new strategies supported by experimental results or preclinical applications will be considered. This Special Issue will help the diagnosis of neuropathic patients to be improved, and we believe it could serve as a reference for all inherited diseases.

Prof. Dr. Frédéric Favreau
Dr. Anne-Sophie Lia
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. Biomedicines 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

  • inherited neuropathies
  • bioinformatics approaches
  • structural variations
  • technologies innovations
  • diagnosis improvement

Published Papers (4 papers)

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Research

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10 pages, 2665 KiB  
Article
The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy
by Ioanna Pyromali, Laurence Richard, Paco Derouault, Jean-Michel Vallat, Karima Ghorab, Corinne Magdelaine, Franck Sturtz, Frédéric Favreau and Anne-Sophie Lia
Biomedicines 2023, 11(6), 1565; https://doi.org/10.3390/biomedicines11061565 - 28 May 2023
Viewed by 1020
Abstract
Hereditary sensory neuropathies (HSN) are a heterogenous group of sensory neuropathies. Mutations in ATL3 have been described in patients presenting with hereditary sensory neuropathy IF (HSN1F), a subtype of HSN. Herein, by analyzing targeted-NGS data of a patient presenting with sensory neuropathy symptoms [...] Read more.
Hereditary sensory neuropathies (HSN) are a heterogenous group of sensory neuropathies. Mutations in ATL3 have been described in patients presenting with hereditary sensory neuropathy IF (HSN1F), a subtype of HSN. Herein, by analyzing targeted-NGS data of a patient presenting with sensory neuropathy symptoms using the CovCopCan bioinformatic tool, we discovered the presence of a deletion of around 3kb in ATL3 from Chr11:63,401,422 to Chr11:63,398,182. This deletion affects ATL3 exons 11 and 12 and could lead to the mutation c.(1036-861_1539+329del), p.(Ala346_Gln513del). In addition, an analysis of the breakpoints’ sequences revealed the presence of Alu transposable elements at the position of the breakpoints, which pointed to a possible erroneous recombination event following a non-allelic-homologous-recombination mechanism in this area. Moreover, electronic microscopy analysis of the patient’s nerve biopsy revealed a severe rarefaction of the myelinated fibers, a demyelinating–remyelinating process, and an abnormal aspect of the endoplasmic reticulum. These findings suggest that this structural variation could potentially be responsible for the HSN symptoms of the patient. Research of structural variations in ATL3 in numerous other patients presenting similar symptoms should be broadly investigated in order to improve patients’ diagnoses. Full article
(This article belongs to the Special Issue Early Diagnosis Research of Inherited Neuropathies)
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8 pages, 639 KiB  
Article
Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) by Focusing on Major Clinical Clues: Beyond Ataxia and Vestibular Impairment
by Laurent Magy, Pauline Chazelas, Laurence Richard, Nathalie Deschamps, Simon Frachet, Jean-Michel Vallat, Corinne Magdelaine, Frédéric Favreau, Flavien Bessaguet, Anne-Sophie Lia and Mathilde Duchesne
Biomedicines 2022, 10(8), 2046; https://doi.org/10.3390/biomedicines10082046 - 22 Aug 2022
Cited by 5 | Viewed by 2660
Abstract
CANVAS, a rare disorder responsible for late-onset ataxia of autosomal recessive inheritance, can be misdiagnosed. We investigated a series of eight patients with sensory neuropathy and/or an unexplained cough, who appeared to suffer from CANVAS, and we emphasized the clinical clues for early [...] Read more.
CANVAS, a rare disorder responsible for late-onset ataxia of autosomal recessive inheritance, can be misdiagnosed. We investigated a series of eight patients with sensory neuropathy and/or an unexplained cough, who appeared to suffer from CANVAS, and we emphasized the clinical clues for early diagnosis. Investigations included clinical and routine laboratory analyses, skin biopsy, nerve biopsy and molecular genetics. The eight patients had clinical and/or laboratory evidence of sensory neuronopathy. All but one had neuropathic pain that had started in an asymmetric fashion in two patients. A chronic cough was a prominent feature in our eight patients and had started years before neuropathic symptoms in all but one. The course of the disease was slow, and ataxia remained mild in all. Five patients were initially thought to have immune-mediated sensory neuronopathy and received immunotherapy. Skin biopsies showed a near complete and non-length-dependent loss of intraepidermal nerve fibers. Moreover, nerve biopsy findings suggested a prominent involvement of small myelinated and unmyelinated fibers. The burden of CANVAS extends far beyond cerebellar ataxia and vestibular manifestations. Indeed, our study shows that a chronic cough and neuropathic pain may represent a major source of impairment in these patients and should not be overlooked to allow an early diagnosis and prevent unnecessary immunotherapy. Full article
(This article belongs to the Special Issue Early Diagnosis Research of Inherited Neuropathies)
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11 pages, 1180 KiB  
Article
Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible
by Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi, Fumikazu Kojima, Yutaka Noguchi, Takahiro Hobara, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Yuji Okamoto, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji and Hiroshi Takashima
Biomedicines 2022, 10(7), 1546; https://doi.org/10.3390/biomedicines10071546 - 29 Jun 2022
Cited by 6 | Viewed by 1816
Abstract
Various genomic variants were linked to inherited peripheral neuropathies (IPNs), including large duplication/deletion and repeat expansion, making genetic diagnosis challenging. This large case series aimed to identify the genetic characteristics of Japanese patients with IPNs. We collected data on 2695 IPN cases throughout [...] Read more.
Various genomic variants were linked to inherited peripheral neuropathies (IPNs), including large duplication/deletion and repeat expansion, making genetic diagnosis challenging. This large case series aimed to identify the genetic characteristics of Japanese patients with IPNs. We collected data on 2695 IPN cases throughout Japan, in which PMP22 copy number variation (CNV) was pre-excluded. Genetic analyses were performed using DNA microarrays, next-generation sequencing-based gene panel sequencing, whole-exome sequencing, CNV analysis, and RFC1 repeat expansion analysis. The overall diagnostic rate and the genetic spectrum of patients were summarized. We identified 909 cases with suspected IPNs, pathogenic or likely pathogenic variants. The most common causative genes were MFN2, GJB1, MPZ, and MME. MFN2 was the most common cause for early-onset patients, whereas GJB1 and MPZ were the leading causes of middle-onset and late-onset patients, respectively. Meanwhile, GJB1 and MFN2 were leading causes for demyelinating and axonal subtypes, respectively. Additionally, we identified CNVs in MPZ and GJB1 genes and RFC1 repeat expansions. Comprehensive genetic analyses explicitly demonstrated the genetic basis of our IPN case series. A further understanding of the clinical characteristics of IPN and genetic spectrum would assist in developing efficient genetic testing strategies and facilitate early diagnosis. Full article
(This article belongs to the Special Issue Early Diagnosis Research of Inherited Neuropathies)
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Review

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20 pages, 5066 KiB  
Review
Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia
by Guy Khalaf, Claudia Mattern, Mélina Begou, Odile Boespflug-Tanguy, Charbel Massaad and Liliane Massaad-Massade
Biomedicines 2022, 10(7), 1709; https://doi.org/10.3390/biomedicines10071709 - 15 Jul 2022
Cited by 5 | Viewed by 2762
Abstract
Pelizaeus–Merzbacher Disease (PMD) is an inherited leukodystrophy affecting the central nervous system (CNS)—a rare disorder that especially concerns males. Its estimated prevalence is 1.45–1.9 per 100,000 individuals in the general population. Patients affected by PMD exhibit a drastic reduction or absence of myelin [...] Read more.
Pelizaeus–Merzbacher Disease (PMD) is an inherited leukodystrophy affecting the central nervous system (CNS)—a rare disorder that especially concerns males. Its estimated prevalence is 1.45–1.9 per 100,000 individuals in the general population. Patients affected by PMD exhibit a drastic reduction or absence of myelin sheaths in the white matter areas of the CNS. The Proteolipid Protein 1 (PLP1) gene encodes a transmembrane proteolipid protein. PLP1 is the major protein of myelin, and it plays a key role in the compaction, stabilization, and maintenance of myelin sheaths. Its function is predominant in oligodendrocyte development and axonal survival. Mutations in the PLP1 gene cause the development of a wide continuum spectrum of leukopathies from the most severe form of PMD for whom patients exhibit severe CNS hypomyelination to the relatively mild late-onset type 2 spastic paraplegia, leading to the concept of PLP1-related disorders. The genetic diversity and the biochemical complexity, along with other aspects of PMD, are discussed to reveal the obstacles that hinder the development of treatments. This review aims to provide a clinical and mechanistic overview of this spectrum of rare diseases. Full article
(This article belongs to the Special Issue Early Diagnosis Research of Inherited Neuropathies)
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