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Recent Research in Pediatric Neurological Disorders with Neurodegeneration
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Recent Research in Pediatric Neurological Disorders with Neurodegeneration

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 (31 January 2024) | Viewed by 1895

Special Issue Editor

Dr. Sergio Aguilera-Albesa

E-Mail Website
Guest Editor
Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario de Navarra, 31008 Pamplona, Spain
Interests: epilepsy; neurodegenerative disorders; ataxia; cerebellar atrophy; movement disorders; white matter disorders; neurogenetic disorders

Special Issue Information

Dear Colleagues,

Pediatric neurologists deal with diagnosis and management of neurological disorders in neonates, infants, children, and adolescents. The discipline comprehends genetic and acquired conditions involving brain, spine, nerves, and muscles. Advances in neurogenetics have allowed specialists to move from clinical diagnoses to identify the underlying cause in numerous complex conditions, i.e., developmental epileptic encephalopathies, congenital ataxias, and movement disorders. Clinical or neuroimaging signs of neurodegeneration can be seen along the natural course of these disorders. However, the molecular mechanisms and related signal pathways of many genetic disorders affecting the child brain are not completely understood, widening the breach between precise diagnosis and targeted therapies. 

This Special Issue, “Recent Research in Pediatric Neurological Disorders with Neurodegeneration”, will focus on potential molecular mechanisms underlying neurogenetic disorders, with emphasis in those involving the early developing brain. We hope that this Special Issue will contribute to lessen the gap between diagnosis and potential therapies in pediatric neurological disorders.

Dr. Sergio Aguilera-Albesa
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • epilepsy
  • ataxia
  • cerebellar atrophy
  • movement disorders
  • leukodystrophy
  • hereditary spastic paraplegia
  • neurodevelopmental disorders
  • genetic syndromes
  • neurodegenerative diseases
  • neurodegeneration

Published Papers (2 papers)

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14 pages, 1366 KiB  
Case Report
D-Bifunctional Protein Deficiency Diagnosis—A Challenge in Low Resource Settings: Case Report and Review of the Literature
by Maria Livia Ognean, Ioana Bianca Mutică, Gabriela Adriana Vișa, Ciprian Radu Șofariu, Claudiu Matei, Bogdan Neamțu, Manuela Cucerea, Radu Galiș, Gabriela Ariadna Cocișiu and Ioana Octavia Mătăcuță-Bogdan
Int. J. Mol. Sci. 2024, 25(9), 4924; https://doi.org/10.3390/ijms25094924 - 30 Apr 2024
Viewed by 503
Abstract
D-bifunctional protein deficiency (D-BPD) is a rare, autosomal recessive peroxisomal disorder that affects the breakdown of long-chain fatty acids. Patients with D-BPD typically present during the neonatal period with hypotonia, seizures, and facial dysmorphism, followed by severe developmental delay and early mortality. While [...] Read more.
D-bifunctional protein deficiency (D-BPD) is a rare, autosomal recessive peroxisomal disorder that affects the breakdown of long-chain fatty acids. Patients with D-BPD typically present during the neonatal period with hypotonia, seizures, and facial dysmorphism, followed by severe developmental delay and early mortality. While some patients have survived past two years of age, the detectable enzyme activity in these rare cases was likely a contributing factor. We report a D-BPD case and comment on challenges faced in diagnosis based on a narrative literature review. An overview of Romania’s first patient diagnosed with D-BPD is provided, including clinical presentation, imaging, biochemical, molecular data, and clinical course. Establishing a diagnosis can be challenging, as the clinical picture is often incomplete or similar to many other conditions. Our patient was diagnosed with type I D-BPD based on whole-exome sequencing (WES) results revealing a pathogenic frameshift variant of the HSD17B4 gene, c788del, p(Pro263GInfs*2), previously identified in another D-BPD patient. WES also identified a variant of the SUOX gene with unclear significance. We advocate for using molecular diagnosis in critically ill newborns and infants to improve care, reduce healthcare costs, and allow for familial counseling. Full article
(This article belongs to the Special Issue Recent Research in Pediatric Neurological Disorders with Neurodegeneration)
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11 pages, 5136 KiB  
Case Report
NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review
by Stefania Della Vecchia, Alessandra Tessa, Rosa Pasquariello, Luis Seabra, Yanick J. Crow and Roberta Battini
Int. J. Mol. Sci. 2024, 25(5), 2864; https://doi.org/10.3390/ijms25052864 - 1 Mar 2024
Viewed by 969
Abstract
NOTCH1-related leukoencephalopathy is a new diagnostic entity linked to heterozygous gain-of-function variants in NOTCH1 that neuroradiologically show some overlap with the inflammatory microangiopathy Aicardi-Goutières syndrome (AGS). To report a 16-year-old boy harbouring a novel NOTCH1 mutation who presented neuroradiological features suggestive of [...] Read more.
NOTCH1-related leukoencephalopathy is a new diagnostic entity linked to heterozygous gain-of-function variants in NOTCH1 that neuroradiologically show some overlap with the inflammatory microangiopathy Aicardi-Goutières syndrome (AGS). To report a 16-year-old boy harbouring a novel NOTCH1 mutation who presented neuroradiological features suggestive of enhanced type I interferon signalling. We describe five years of follow-up and review the current literature on NOTCH1-related leukoencephalopathy. Clinical evaluation, standardised scales (SPRS, SARA, CBCL, CDI-2:P, WISCH-IV and VABS-2) and neuroradiological studies were performed, as well as blood DNA analysis. For the literature review, a search was performed on Pubmed, Scopus and Web of Science up to December 2023 using the following text word search strategy: (NOTCH1) AND (leukoencephalopathy). Our patient presents clinical features consistent with other reported cases with NOTCH1 mutations but is among the minority of patients with an onset after infancy. During the five-year follow-up, we observed an increase in the severity of spasticity and ataxia. However, at the age of 16 years, our proband is still ambulatory. As for other reported patients, he manifests psychiatric features ranging from hyperactivity during childhood to anxiety and depression during adolescence. The neuroradiological picture remained essentially stable over five years. In addition to the typical findings of leukoencephalopathy with cysts and calcifications already described, we report the presence of T2-hyperintensity and T1-hypotensity of the transverse pontine fibres, enhancement in the periventricular white matter after gadolinium administration and decreased NAA and Cho peaks in the periventricular white matter on MRS. We identified a novel heterozygous variant in NOTCH1 (c.4788_4799dup), a frame insertion located in extracellular negative regulatory region (NRR)-domain as in previously published cases. Blood interferon signalling was not elevated compared to controls. This case provides further data on a new diagnostic entity, i.e., NOTCH1-related leukoencephalopathy. By describing a standardised five-year follow-up in one case and reviewing the other patients described to date, we outline recommendations relating to monitoring in this illness, emphasising the importance of psychiatric and gastroenterological surveillance alongside neurological and neuropsychological management. Studies are needed to better understand the factors influencing disease onset and severity, which are heterogeneous. Full article
(This article belongs to the Special Issue Recent Research in Pediatric Neurological Disorders with Neurodegeneration)
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