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Natural History in Neurogenetic Disorders: Molecular Characterization in the NGS Era

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 (20 February 2025) | Viewed by 2279

Special Issue Editor

Dr. Guido Primiano

E-Mail Website
Guest Editor
Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Rome, Italy
Interests: neurogenetics; neurological diseases; neurodegeneration; clinical neurophysiology; neuromuscular disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The breakthrough of next-generation sequencing (NGS) technologies has significantly changed the diagnostic approach to inherited neurological disorders. NGS techniques allow for rapid and inexpensive large-scale genomic analysis, creating unprecedented opportunities to integrate genomic data into the clinical phenotyping and management of subjects with neurogenetics diseases. In particular, a deep-phenotyping approach is essential for correctly interpreting genetic variants and reevaluating patients who lack a conclusive genetic diagnosis. Some examples include mitochondrial diseases, neuromuscular disorders, hereditary spastic paraplegia and hereditary ataxias. Furthermore, next-generation sequencing techniques provide powerful ways of interrogating the epigenome and, in combination with other omics technologies, could contribute to identifying new disease mechanisms.

For this Special Issue entitled “Natural History in Neurogenetic Disorders: Molecular Characterization in the NGS Era”, we are looking for original research articles and state-of-the-art reviews on the molecular characterization of neurogenetic disorders.

Dr. Guido Primiano
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.

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Keywords

  • neurological disorders
  • neurogenetic diseases
  • next-generation sequencing
  • mitochondrial diseases
  • hereditary spastic paraplegia
  • hereditary ataxias
  • neuromuscular disorders
  • neurodegenerative diseases

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Published Papers (2 papers)

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Research

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10 pages, 809 KiB  
Communication
SCA14-Associated PKCγ-G118D Mutant Exhibits a Detrimental Effect on Cerebellar Purkinje Cell Dendritic Growth
by Qin-Wei Wu, Kejian Wang and Josef P. Kapfhammer
Int. J. Mol. Sci. 2025, 26(8), 3688; https://doi.org/10.3390/ijms26083688 - 14 Apr 2025
Viewed by 327
Abstract
Spinocerebellar ataxia (SCA), an autosomal dominant neurodegenerative condition, is marked by a gradual deterioration of cerebellar function. To date, more than 40 distinct SCA subtypes have been identified, with some attributed to CAG repeat expansions and others to point mutations or deletions. Among [...] Read more.
Spinocerebellar ataxia (SCA), an autosomal dominant neurodegenerative condition, is marked by a gradual deterioration of cerebellar function. To date, more than 40 distinct SCA subtypes have been identified, with some attributed to CAG repeat expansions and others to point mutations or deletions. Among these, spinocerebellar ataxia type 14 (SCA14) stems from missense mutations or deletions within the PRKCG gene, encoding protein kinase C gamma (PKCγ), a pivotal signaling molecule abundant in Purkinje cells. Despite its significance, the precise mechanisms underlying how genetic alterations trigger Purkinje cell malfunction and degeneration remain elusive. Given the prominent role and high expression of PKCγ in Purkinje cells, SCA14 presents a unique opportunity to unravel the underlying pathogenesis. A straightforward hypothesis posits that alterations in the biological activity of PKCγ underlie the disease phenotype, and there are hints that mutated PKCγ proteins exhibit altered enzymatic function. Our prior research focused on the PKCγ-G118D mutation, commonly found in SCA14 patients, located in the regulatory domain of the protein. While cellular assays demonstrated enhanced enzymatic activity for PKCγ-G118D, transgenic mice carrying this mutation failed to exhibit suppressed dendritic development in cerebellar cultures, raising questions about its impact within living Purkinje cells. One hypothesis is that endogenous PKCγ might interfere with the expression or effect of PKCγ-G118D. To further investigate, we leveraged CRISPR-Cas9 technology to generate a PKCγ knockout mouse model and integrated it with an L7-based, Purkinje cell-specific transfection system to analyze the effects of G118D protein expression on the dendritic morphology of developing Purkinje cells. Our findings reveal that, utilizing this approach, PKCγ-G118D exerts a detrimental effect on Purkinje cell growth, confirming its negative influence, indicating that the potential of the G118D mutation to contribute to SCA14 pathogenesis. Full article
(This article belongs to the Special Issue Natural History in Neurogenetic Disorders: Molecular Characterization in the NGS Era)
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Review

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15 pages, 1336 KiB  
Review
Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders
by Domenica Megalizzi, Giulia Trastulli, Luca Colantoni, Emma Proietti Piorgo, Guido Primiano, Cristina Sancricca, Carlo Caltagirone, Raffaella Cascella, Claudia Strafella and Emiliano Giardina
Int. J. Mol. Sci. 2024, 25(20), 10949; https://doi.org/10.3390/ijms252010949 - 11 Oct 2024
Viewed by 1383
Abstract
Rare diseases are heterogeneous diseases characterized by various symptoms and signs. Due to the low prevalence of such conditions (less than 1 in 2000 people), medical expertise is limited, knowledge is poor and patients’ care provided by medical centers is inadequate. An accurate [...] Read more.
Rare diseases are heterogeneous diseases characterized by various symptoms and signs. Due to the low prevalence of such conditions (less than 1 in 2000 people), medical expertise is limited, knowledge is poor and patients’ care provided by medical centers is inadequate. An accurate diagnosis is frequently challenging and ongoing research is also insufficient, thus complicating the understanding of the natural progression of the rarest disorders. This review aims at presenting the multimodal approach supported by the integration of multiple analyses and disciplines as a valuable solution to clarify complex genotype–phenotype correlations and promote an in-depth examination of rare disorders. Taking into account the literature from large-scale population studies and ongoing technological advancement, this review described some examples to show how a multi-skilled team can improve the complex diagnosis of rare diseases. In this regard, Facio-Scapulo-Humeral muscular Dystrophy (FSHD) represents a valuable example where a multimodal approach is essential for a more accurate and precise diagnosis, as well as for enhancing the management of patients and their families. Given their heterogeneity and complexity, rare diseases call for a distinctive multidisciplinary approach to enable diagnosis and clinical follow-up. Full article
(This article belongs to the Special Issue Natural History in Neurogenetic Disorders: Molecular Characterization in the NGS Era)
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