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Brain Sciences
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Neurogenetic Disorders across Human Life: From Infancy to Adulthood
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Neurogenetic Disorders across Human Life: From Infancy to Adulthood

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 (15 October 2023) | Viewed by 17142

Special Issue Editors

Dr. Pedro Braga-Neto

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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
Special Issues, Collections and Topics in MDPI journals
Dr. Paulo Ribeiro Nóbrega

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Co-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 Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The study of genetic diseases with neurological manifestations has recently increased. Neurogenetic disorders form a large group of diseases recognized as rare, but commonly underdiagnosed.

Many neurological diseases have an associated genetic profile and it is believed that one-third of Mendelian genetic diseases present phenotypes with associated neurological manifestations. Greater knowledge of the genes involved in neurogenetic diseases makes the development of new treatment strategies for this group of diseases more feasible. Of note, gene-therapeutic approaches provide promise for a cure for at least some of these diseases. The identification of these genes also makes possible new diagnostic strategies for these diseases, as well as the definition of prognosis and genetic counseling. This Special Issue aims to highlight different types of neurogenetic disorders across human life, focusing on their natural history, epidemiology, diagnosis and treatment approaches.  

Dr. Pedro Braga-Neto
Dr. Paulo Ribeiro Nóbrega
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

  • neurogenetics
  • diagnosis
  • treatment
  • natural history
  • epidemiology

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Published Papers (6 papers)

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Editorial

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2 pages, 193 KiB  
Editorial
Editorial for Brain Sciences Special Issue: “Neurogenetic Disorders across Human Life: From Infancy to Adulthood”
by Paulo Ribeiro Nóbrega and Pedro Braga-Neto
Brain Sci. 2024, 14(2), 111; https://doi.org/10.3390/brainsci14020111 - 23 Jan 2024
Viewed by 1334
Abstract
This Special Issue assembles papers that highlight different types of neurogenetic disorders that occur throughout human life, from childhood to adulthood, focusing on their natural history, epidemiology, diagnosis, and treatment approaches [...] Full article
(This article belongs to the Special Issue Neurogenetic Disorders across Human Life: From Infancy to Adulthood)

Research

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14 pages, 846 KiB  
Article
Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments
by Vitor Lucas Lopes Braga, Danielle Pessoa Lima, Tamiris Carneiro Mariano, Pedro Lucas Grangeiro de Sá Barreto Lima, Ana Beatriz de Almeida Maia, Wallace William da Silva Meireles, Kécia Tavares de Oliveira Pessoa, Cristiane Mattos de Oliveira, Erlane Marques Ribeiro, Paulo Ribeiro Nóbrega and André Luiz Santos Pessoa
Brain Sci. 2023, 13(11), 1521; https://doi.org/10.3390/brainsci13111521 - 28 Oct 2023
Cited by 2 | Viewed by 2277
Abstract
Dystrophinopathies are muscle diseases caused by pathogenic variants in DMD, the largest gene described in humans, representing a spectrum of diseases ranging from asymptomatic creatine phosphokinase elevation to severe Duchenne muscular dystrophy (DMD). Several therapeutic strategies are currently in use or [...] Read more.
Dystrophinopathies are muscle diseases caused by pathogenic variants in DMD, the largest gene described in humans, representing a spectrum of diseases ranging from asymptomatic creatine phosphokinase elevation to severe Duchenne muscular dystrophy (DMD). Several therapeutic strategies are currently in use or under development, each targeting different pathogenic variants. However, little is known about the genetic profiles of northeast Brazilian patients with dystrophinopathies. We describe the spectrum of pathogenic DMD variants in a single center in northeast Brazil. This is an observational, cross-sectional study carried out through molecular-genetic analysis of male patients diagnosed with dystrophinopathies using Multiplex Ligation-dependent Probe Amplification (MLPA) followed by Next-Generation Sequencing (NGS)-based strategies. A total of 94 male patients were evaluated. Deletions (43.6%) and duplications (10.6%) were the most recurring patterns of pathogenic variants. However, small variants were present in 47.1% of patients, most of them nonsense variants (27.6%). This is the largest South American single-center case series of dystrophinopathies to date. We found a higher frequency of treatment-amenable nonsense single-nucleotide variants than most previous studies. These findings may have implications for diagnostic strategies in less-known populations, as a higher frequency of nonsense variants may mean a higher possibility of treating patients with disease-modifying drugs. Full article
(This article belongs to the Special Issue Neurogenetic Disorders across Human Life: From Infancy to Adulthood)
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12 pages, 6070 KiB  
Article
Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi–Goutières Syndrome Phenotype
by Isabella Peixoto de Barcelos, Clarissa Bueno, Luís Filipe S. Godoy, André Pessoa, Larissa A. Costa, Fernanda C. Monti, Katiane Souza-Cabral, Clarice Listik, Diego Castro, Bruno Della-Ripa, Fernando Freua, Laís C. Pires, Lia T. Krüger, José Luiz D. Gherpelli, Flavia B. Piazzon, Fabiola P. Monteiro, Leandro T. Lucato and Fernando Kok
Brain Sci. 2023, 13(8), 1169; https://doi.org/10.3390/brainsci13081169 - 5 Aug 2023
Cited by 3 | Viewed by 1861
Abstract
Objective: To report a series of atypical presentations of Aicardi–Goutières syndrome. Methods: Clinical, neuroimaging, and genetic data. Results: We report a series of six unrelated patients (five males) with a subacute loss of developmental milestones, pyramidal signs, and regression of communication abilities, with [...] Read more.
Objective: To report a series of atypical presentations of Aicardi–Goutières syndrome. Methods: Clinical, neuroimaging, and genetic data. Results: We report a series of six unrelated patients (five males) with a subacute loss of developmental milestones, pyramidal signs, and regression of communication abilities, with onset at ages ranging from 7 to 20 months, reaching a nadir after 4 to 24 weeks. A remarkable improvement of lost abilities occurred in the follow-up, and they remained with residual spasticity and dysarthria but preserved cognitive function. Immunization or febrile illness occurred before disease onset in all patients. CSF was normal in two patients, and in four, borderline or mild lymphocytosis was present. A brain CT scan disclosed a subtle basal ganglia calcification in one of six patients. Brain MRI showed asymmetric signal abnormalities of white matter with centrum semi-ovale involvement in five patients and a diffuse white matter abnormality with contrast enhancement in one. Four patients were diagnosed and treated for acute demyelinating encephalomyelitis (ADEM). Brain imaging was markedly improved with one year or more of follow-up (average of 7 years), but patients remained with residual spasticity and dysarthria without cognitive impairment. Demyelination relapse occurred in a single patient four years after the first event. Whole-exome sequencing (WES) was performed in all patients: four of them disclosed biallelic pathogenic variants in RNASEH2B (three homozygous p.Ala177Thr and one compound heterozygous p.Ala177Thr/p.Gln58*) and in two of them the same homozygous deleterious variants in RNASEH2A (p.Ala249Val). Conclusions: This report expands the phenotype of AGS to include subacute developmental regression with partial clinical and neuroimaging improvement. Those clinical features might be misdiagnosed as ADEM. Full article
(This article belongs to the Special Issue Neurogenetic Disorders across Human Life: From Infancy to Adulthood)
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Review

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16 pages, 2342 KiB  
Review
What General Neurologists Should Know about Autoinflammatory Syndromes?
by Marianna Pinheiro Moraes de Moraes, Renan Rodrigues Neves Ribeiro do Nascimento, Fabiano Ferreira Abrantes, José Luiz Pedroso, Sandro Félix Perazzio and Orlando Graziani Povoas Barsottini
Brain Sci. 2023, 13(9), 1351; https://doi.org/10.3390/brainsci13091351 - 21 Sep 2023
Cited by 3 | Viewed by 5676
Abstract
Autoinflammatory disorders encompass a wide range of conditions with systemic and neurological symptoms, which can be acquired or inherited. These diseases are characterized by an abnormal response of the innate immune system, leading to an excessive inflammatory reaction. On the other hand, autoimmune [...] Read more.
Autoinflammatory disorders encompass a wide range of conditions with systemic and neurological symptoms, which can be acquired or inherited. These diseases are characterized by an abnormal response of the innate immune system, leading to an excessive inflammatory reaction. On the other hand, autoimmune diseases result from dysregulation of the adaptive immune response. Disease flares are characterized by systemic inflammation affecting the skin, muscles, joints, serosa, and eyes, accompanied by unexplained fever and elevated acute phase reactants. Autoinflammatory syndromes can present with various neurological manifestations, such as aseptic meningitis, meningoencephalitis, sensorineural hearing loss, and others. Early recognition of these manifestations by general neurologists can have a significant impact on the prognosis of patients. Timely and targeted therapy can prevent long-term disability by reducing chronic inflammation. This review provides an overview of recently reported neuroinflammatory phenotypes, with a specific focus on genetic factors, clinical manifestations, and treatment options. General neurologists should have a good understanding of these important diseases. Full article
(This article belongs to the Special Issue Neurogenetic Disorders across Human Life: From Infancy to Adulthood)
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16 pages, 1655 KiB  
Review
Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review
by Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, Pedro Lucas Grangeiro de Sá Barreto Lima, Emanuel Ferreira Coelho, Anna Melissa Noronha Oliveira, Emanuel de Assis Bertulino Martins Gomes, Luciano de Albuquerque Mota, Lucas Soares Radtke, Matheus dos Santos Carvalho, David Augusto Batista Sá Araújo, Maria Suelly Nogueira Pinheiro, Vitor Carneiro de Vasconcelos Gama, Renan Magalhães Montenegro Júnior, Pedro Braga Neto and Paulo Ribeiro Nóbrega
Brain Sci. 2023, 13(7), 979; https://doi.org/10.3390/brainsci13070979 - 22 Jun 2023
Cited by 8 | Viewed by 3348
Abstract
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase. This defect results in the accumulation of cholestanol and bile alcohols in various tissues, including the brain, tendons and peripheral nerves. [...] Read more.
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase. This defect results in the accumulation of cholestanol and bile alcohols in various tissues, including the brain, tendons and peripheral nerves. We conducted this review to evaluate lipid profile abnormalities in patients with CTX. A search was conducted in PubMed, Embase and the Virtual Health Library in January 2023 to evaluate studies reporting the lipid profiles of CTX patients, including the levels of cholestanol, cholesterol and other lipids. Elevated levels of cholestanol were consistently observed. Most patients presented normal or low serum cholesterol levels. A decrease in chenodeoxycholic acid (CDCA) leads to increased synthesis of cholesterol metabolites, such as bile alcohols 23S-pentol and 25-tetrol 3-glucuronide, which may serve as surrogate follow-up markers in patients with CTX. Lipid abnormalities in CTX have clinical implications. Cholestanol deposition in tissues contributes to clinical manifestations, including neurological symptoms and tendon xanthomas. Dyslipidemia and abnormal cholesterol metabolism may also contribute to the increased risk of atherosclerosis and cardiovascular complications observed in some CTX patients. Full article
(This article belongs to the Special Issue Neurogenetic Disorders across Human Life: From Infancy to Adulthood)
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Other

9 pages, 7580 KiB  
Case Report
Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient
by Isabella Peixoto de Barcelos, Dong Li, Deborah Watson, Elizabeth M. McCormick, Lisa Elden, Thomas S. Aleman, Erin C. O’Neil, Marni J. Falk and Hakon Hakonarson
Brain Sci. 2023, 13(8), 1210; https://doi.org/10.3390/brainsci13081210 - 16 Aug 2023
Viewed by 1756
Abstract
We report a 20-year-old, female, adopted Indian patient with over 662 Mb regions of homozy-gosity who presented with intellectual disability, ataxia, schizophrenia, retinal dystrophy, moder-ate-to-severe progressive sensorineural hearing loss (SNHL), congenital hypothyroidism, cleft mi-tral valve with mild mitral valve regurgitation, and dysmorphic features. [...] Read more.
We report a 20-year-old, female, adopted Indian patient with over 662 Mb regions of homozy-gosity who presented with intellectual disability, ataxia, schizophrenia, retinal dystrophy, moder-ate-to-severe progressive sensorineural hearing loss (SNHL), congenital hypothyroidism, cleft mi-tral valve with mild mitral valve regurgitation, and dysmorphic features. Exome analysis first on a clinical basis and subsequently on research reanalysis uncovered pathogenic variants in three nu-clear genes following two modes of inheritance that were causal to her complex phenotype. These included (1) compound heterozygous variants in BBS6 potentially causative for Bardet–Biedl syn-drome 6; (2) a homozygous, known pathogenic variant in the stereocilin (STRC) gene associated with nonsyndromic deafness; and (3) a homozygous variant in dual oxidase 2 (DUOX2) gene asso-ciated with congenital hypothyroidism. A variant of uncertain significance was identified in a fourth gene, troponin T2 (TNNT2), associated with cardiomyopathy but not the cleft mitral valve, with mild mitral regurgitation seen in this case. This patient was the product of an apparent first-degree relationship, explaining the multiple independent inherited findings. This case high-lights the need to carefully evaluate multiple independent genetic etiologies for complex pheno-types, particularly in the case of consanguinity, rather than presuming unexplained features are expansions of known gene disorders. Full article
(This article belongs to the Special Issue Neurogenetic Disorders across Human Life: From Infancy to Adulthood)
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