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Analysis of institutional authors

Lochmüller, HannsAuthor

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September 8, 2024
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Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.

Publicated to:Orphanet Journal Of Rare Diseases. 12 (1): 124- - 2017-07-04 12(1), DOI: 10.1186/s13023-017-0671-8

Authors: Verhaart IEC; Robertson A; Wilson IJ; Aartsma-Rus A; Cameron S; Jones CC; Cook SF; Lochmüller H

Affiliations

Biogen MA Inc., Cambridge, USA. - Author
Epidemiology Associates LLC, Chapel Hill, USA. - Author
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. - Author
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. - Author
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. hanns.lochmuller@ncl.ac.uk. - Author
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Abstract

Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. A prevalence of approximately 1-2 per 100,000 persons and incidence around 1 in 10,000 live births have been estimated with SMA type I accounting for around 60% of all cases. Since SMA is a relatively rare condition, studies of its prevalence and incidence are challenging. Most published studies are outdated and therefore rely on clinical rather than genetic diagnosis. Furthermore they are performed in small cohorts in small geographical regions and only study European populations. In addition, the heterogeneity of the condition can lead to delays and difficulties in diagnosing the condition, especially outside of specialist clinics, and contributes to the challenges in understanding the epidemiology of the disease. The frequency of unaffected, heterozygous carriers of the SMN1 mutations appears to be higher among Caucasian and Asian populations compared to the Black (Sub-Saharan African ancestry) population. However, carrier frequencies cannot directly be translated into incidence and prevalence, as very severe (death in utero) and very mild (symptom free in adults) phenotypes carrying bi-allelic SMN1 mutations exist, and their frequency is unknown. More robust epidemiological data on SMA covering larger populations based on accurate genetic diagnosis or newborn screening would be helpful to support planning of clinical studies, provision of care and therapies and evaluation of outcomes.

Keywords

Carrier frequencyChromosomes, human, pair 5Ethnic backgroundFemaleHumansIncidenceMaleMuscular atrophy, spinalPrevalenceSmn1 protein, humanSpinal muscular atrophySurvival of motor neuron 1 protein

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Orphanet Journal Of Rare Diseases due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 2017, it was in position , thus managing to position itself as a Q1 (Primer Cuartil), in the category Medicine (Miscellaneous).

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 60.77, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions Jul 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-07-18, the following number of citations:

  • Europe PMC: 274

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 2025-07-18:

  • 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: 818.
  • 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: 871 (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: 57.1.
  • The number of mentions on the social network X (formerly Twitter): 6 (Altmetric).
  • The number of mentions on Wikipedia: 1 (Altmetric).
  • The number of mentions in news outlets: 4 (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.

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: United Kingdom; United States of America.