Five linguistic misrepresentations of Huntington’s disease

1 Introduction

Medical jargon exists to ensure effective communication between health professionals, including in health policy texts and through the medium of scientific publication, although such technical terms often need to be simplified or modified to make them easier for patients and general members of the public to understand [1]. Some medical practitioners have advocated for the elimination of jargon in doctor–patient communication [2], but this would not be sage advice for communication between health professionals in the publishing medium, for example through heath policy papers. For this reason, there is a need to respect the accuracy of medical jargon within scientific medical publications, even more so in academic and scholarly journals that claim to be peer reviewed.

In 2021, in response to the discovery of a substantial amount of technical terms or jargon that was misrepresented in indexed literature, including on medical topics, through the use of synonymized terms, the colloquial expression “tortured phrases” was coined, and it was suggested in that preprint that such terms might arise due to software that synonymizes terms for example, to reduce the level of textual similarity [3], which many journals screen for in submissions. In peer-reviewed journals, as implied by this term, peer reviewers are typically responsible for ensuring that accurate medical jargon is represented in a paper, and any terms that do not confirm to established jargon, would need to be revised, following the advice by peer reviewers and editors. Thus, it can be implied that the existence of “tortured phrases” in published medical literature represents a failing in the peer review filtering mechanism and to some extent, editorial oversight [4]. Not only, their presence can also serve as linguistic primers or indicators of other issues with a paper, or even misconduct [5], even in preprints [6], so much so that papers have been flagged due to the presence of such inaccurate jargon [7], with several papers already retracted as a result. A prominent example includes “extreme intense respiratory syndrome-coronavirus 2” rather than the use of “severe acute respiratory syndrome coronavirus 2” (or SARS-CoV-2), a coronavirus strain that causes coronavirus disease 2019, or COVID-19 [5]. In cancer, breast cancer might be misrepresented by “bosom malignancy” [8].

Several neurological diseases have been misrepresented by “tortured phrases”: Alzheimer’s disease [9], Parkinson’s disease [10], and Creutzfeldt-Jakob disease [11]. As a logical continuation of that research and endeavors to discover and examine “tortured phrases” in the medical sciences, including of neurological diseases [12], this study aimed to identify “tortured phrases” for Huntington’s disease (HD), a genetically determined neurodegenerative disease [13].

2 Methods

Searches were conducted at Google Scholar on 2–3 January 2025, for five possible variants (i.e., “tortured phrases”) of HD: “Huntington’s ailment” (HA), “Huntington’s illness” (HiL), “Huntington’s infection” (HiN), “Huntington’s malady” (HM), and “Huntington’s sickness” (HS). In each search, no restrictions were placed on dates or document types, although searches were limited to the first 300 entries for each potential “tortured phrase,” to make the manual search manageable. Documents whose full texts could not be obtained were not included in the analysis. The corrected or retracted status of all cases was verified on 17 April 2025.

3 Results and discussion

A total of 16 cases of the distortion of HD were identified, specifically the replacement of the term “disease” with five synonyms (Table 1). Although the vast majority were in fairly unknown open access journals of non-status quo publishers, occasional surprising findings in status quo journals, such as Springer Nature (four documents), MDPI, and Wolters Kluwer, reinforce the permeability and imperfection of traditional peer review [14]. There were 6, 5, 3, 5, and 2 cases of HA, HiL, HiN, HM, and HS, respectively, and the number of “tortured phrases” ranged between once (11 cases) and 14 times (one case) (Table 1). None of the documents have been corrected or retracted.

Accurate terminology of a disease, including for HD, lies at the heart of its accurate identification and medication. It is thus incumbent upon the editors of these journals to ascertain how such errors emerged, to gain a finer appreciation of the birth of “tortured phrases,” but also to correct these errors, to avoid the propagation of these erroneous terms to downstream literature by citing authors. Here, editors need to screen “plagiarized” text carefully during textual similarity tests, differentiating valid jargon from jargon-like terms or “tortured phrases” [15], copy editors can play an important role in ensuring the medical precision of such terms prior to publication [16]. Even generative artificial intelligence, in the form of ChatGPT, is able to reverse and correct “tortured phrases,” re-establishing correct jargon [17]. Of some concern are the three cases that are indexed in PubMed, a premier source for medical information and literature. The linguistic misrepresentation of HD by “tortured phrases” highlighted in Table 1 gives the impression of jargon or technical terms, and may even be sufficiently linguistically similar to them to avoid detection or to raise editorial red flags, but they are sufficiently linguistically distant to distort the precision that is expected of medical jargon. Overall, if a paper that claims to be scientific and evaluated by peers and professionals, but is unable to effectively detect, then this risks causing harm to the integrity of that literature [18,19].

The analysis has limitations: only the first 300 hits were examined, although a systematic analysis of the many thousands of hits in Google Scholar, perhaps using web-scraping approaches or more automated searches, might reveal additional cases.