Neurodevelopmental Disorders: Genetic Studies and Therapeutic Strategies

A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Genetics".

Deadline for manuscript submissions: 31 October 2024 | Viewed by 1873

Special Issue Editors

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Guest Editor
Univ. Bordeaux, CNRS, Aquitaine Institute for Cognitive and Integrative Neurosciences, UMR5287, 33405 Bordeaux, France
Interests: mouse models of neurodevelopmental disorders; behavioral phenotyping; mouse behavior; autism spectrum disorders; Williams–Beuren syndrome

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Guest Editor
Univ. Bordeaux, CNRS, INCIA, UMR 5287, 33076 Bordeaux, France
Interests: neurobiology; Alzheimer's disease; learning and memory; neurodevelopment

Special Issue Information

Dear Colleagues,

Neurodevelopmental disorders (NDDs) have been modeled in laboratory mice and rats through a variety of genetic and environmental approaches over the past few decades. Mouse models based on genetic mutations have been widely employed to explore the pathological mechanisms underlying NDDs and to identify novel therapeutic targets.

Our Special Issue will focus on such preclinical research, providing novel insight into the molecular pathways involved in NDDs and suggesting valid therapeutic approaches. We welcome studies involving basic research on rodent models of all NDDs, including Autism spectrum disorders, Schizophrenia, Down syndrome, and rare NDDs. Articles proposing novel pharmacological and non-pharmacological therapeutic approaches in pre-clinical models, as well as those investigating pathological pathways, are strongly encouraged. Findings describing novel genetic rodent models of NDDs will be included; pertinent non-genetic approaches will also be considered. 

Dr. Susanna Pietropaolo
Dr. Bruno Bontempi
Guest Editors

Manuscript Submission Information

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 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.


  • mouse models
  • Autism Spectrum disorder
  • transgenic rodents
  • pharmacological treatments
  • gene-environment interactions
  • neurodevelopmental disorders
  • rare diseases

Published Papers (1 paper)

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19 pages, 3302 KiB  
Voluntary Running Improves Behavioral and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder
by Nicola Mottolese, Beatrice Uguagliati, Marianna Tassinari, Camilla Bruna Cerchier, Manuela Loi, Giulia Candini, Roberto Rimondini, Giorgio Medici, Stefania Trazzi and Elisabetta Ciani
Biomolecules 2023, 13(9), 1396; - 15 Sep 2023
Cited by 1 | Viewed by 1562
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a rare neurodevelopmental disease caused by mutations in the X-linked CDKL5 gene. CDD is characterized by a broad spectrum of clinical manifestations, including early-onset refractory epileptic seizures, intellectual disability, hypotonia, visual disturbances, and [...] Read more.
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a rare neurodevelopmental disease caused by mutations in the X-linked CDKL5 gene. CDD is characterized by a broad spectrum of clinical manifestations, including early-onset refractory epileptic seizures, intellectual disability, hypotonia, visual disturbances, and autism-like features. The Cdkl5 knockout (KO) mouse recapitulates several features of CDD, including autistic-like behavior, impaired learning and memory, and motor stereotypies. These behavioral alterations are accompanied by diminished neuronal maturation and survival, reduced dendritic branching and spine maturation, and marked microglia activation. There is currently no cure or effective treatment to ameliorate the symptoms of the disease. Aerobic exercise is known to exert multiple beneficial effects in the brain, not only by increasing neurogenesis, but also by improving motor and cognitive tasks. To date, no studies have analyzed the effect of physical exercise on the phenotype of a CDD mouse model. In view of the positive effects of voluntary running on the brain of mouse models of various human neurodevelopmental disorders, we sought to determine whether voluntary daily running, sustained over a month, could improve brain development and behavioral defects in Cdkl5 KO mice. Our study showed that long-term voluntary running improved the hyperlocomotion and impulsivity behaviors and memory performance of Cdkl5 KO mice. This is correlated with increased hippocampal neurogenesis, neuronal survival, spine maturation, and inhibition of microglia activation. These behavioral and structural improvements were associated with increased BDNF levels. Given the positive effects of BDNF on brain development and function, the present findings support the positive benefits of exercise as an adjuvant therapy for CDD. Full article
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Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

Title: Chronic Administration of BMS-204352 Exerts Limited Neurobehavioral Effects in a Mouse Model of Fragile X Syndrome
Authors: Susanna Pietropaolo
Affiliation: Univ. Bordeaux, CNRS, EPHE, INCIA, UMR 5287, F-33000 Bordeaux, France

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