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Rovira-Moreno, EulaliaAuthor

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An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature

Publicated to:Genes. 13 (8): 1483- - 2022-08-01 13(8), DOI: 10.3390/genes13081483

Authors: Sanchez-Tejerina, Daniel; Luis Restrepo-Vera, Juan; Rovira-Moreno, Eulalia; Codina-Sola, Marta; Llaurado, Arnau; Sotoca, Javier; Salvado, Maria; Raguer, Nuria; Garcia-Arumi, Elena; Juntas-Morales, Raul

Affiliations

Univ Autonoma Barcelona, Vall dHebron Univ Hosp, Dept Clin & Mol Genet, Barcelona 08035, Spain - Author
Vall dHebron Univ Hosp, Dept Clin Neurophysiol, 119 Passeig Vall dHebron, Barcelona 08035, Spain - Author
Vall dHebron Univ Hosp, Dept Neurol, Neuromuscular Dis Unit, European Reference Network Rare Neuromuscular Dis, Passeig Vall dHebron 119, Barcelona 08035, Spain - Author

Abstract

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that can rarely affect young individuals. Juvenile ALS (JALS) is defined for individuals with an onset of the disease before the age of 25. The contribution of genetics to ALS pathology is a field of growing interest. One of the differences between adult-onset ALS and JALS is their genetic background, with a higher contribution of genetic causes in JALS. We report a patient with JALS and a pathogenic variant in the TARDBP gene (c.1035C > G; p.Asn345Lys), previously reported only in adult-onset ALS, and with an atypical phenotype of marked upper motor neuron predominance. In addition, the proband presented an additional variant in the NEK1 gene, c.2961C > G (p.Phe987Leu), which is classified as a variant of unknown significance. Segregation studies showed a paternal origin of the TARDBP variant, while the variant in NEK1 was inherited from the mother. We hypothesize that the NEK1 variant acts as a disease modifier and suggests the possibility of a functional interaction between both genes in our case. This hypothesis could explain the peculiarities of the phenotype, penetrance, and the age of onset. This report highlights the heterogeneity of the phenotypic presentation of ALS associated with diverse pathogenic genetic variants.

Keywords

FeaturesFrontotemporal lobar degenerationFuJuvenile amyotrophic lateral sclerosisMutationsTardbpTdp-43Upper motor neuron predominant disordeVariants

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Genes due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2022, it was in position 66/171, thus managing to position itself as a Q2 (Segundo Cuartil), in the category Genetics & Heredity. Notably, the journal is positioned en el Cuartil Q2 para la agencia Scopus (SJR) en la categoría Genetics.

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2025-06-26:

  • WoS: 2
  • Scopus: 2
  • OpenCitations: 1

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-06-26:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 9.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 9 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 3.25.
  • The number of mentions on the social network X (formerly Twitter): 1 (Altmetric).
  • The number of mentions on Wikipedia: 1 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.