Osseous Variants of the Cervical Spine with Potential Pathological Significance: Possible Evidence of Vertebrobasilar Insufficiency in a Skeletal Sample from the Post-Classical Cemetery of Corfinio (12th–15th Centuries CE, L’Aquila, Italy)

Round 1

Reviewer 1 Report

Comments and Suggestions for Authors

The authors presented an interesting and comprehensive study on the anatomical variants of the FT (from C1 to C7) and C1 vertebra (PP, PL and RTF) in a medieval sample.

The study increases the knowledge on the subject.

As minor comments, I suggest the authors review their database and, please, if possible, indicate the number and percentage of C1 vertebrae with two (or more) anatomical variants.

Author Response

We sincerely thank Reviewer #1 for their positive feedback and for recognizing the relevance of our study on anatomical variations of the C1 vertebra in a medieval sample. We particularly appreciate the suggestion to review our database for the simultaneous presence of multiple variants in the analyzed vertebrae. This insightful observation enriched our analysis and has been incorporated into the revised manuscript to enhance its clarity and depth.

• Comment: The authors presented an interesting and comprehensive study on the anatomical variants of the FT (from C1 to C7) and C1 vertebra (PP, PL and RTF) in a medieval sample.

The study increases the knowledge on the subject.

As minor comments, I suggest the authors review their database and, please, if possible, indicate the number and percentage of C1 vertebrae with two (or more) anatomical variants.

Reply: We thank the reviewer for this observation. After reviewing our database, we identified that 5 of the 17 analysed C1 vertebrae (29.4%) exhibited two or more simultaneous osseous variants (PP, PL, and/or RTF). Specifically, one individual displayed the presence of all three variants (PP + PL + RTF), while four individuals presented a combination of PP and RTF. No cases were found with only PL + RTF or PP + PL without the third variant. This information has been added to the manuscript to enhance clarity (lines 364-368).

Reviewer 2 Report

Comments and Suggestions for Authors

Dear, before listing some key points for the revision of this manuscript, I would like to emphasize that the topic presented is very interesting and discussed in Anthropology especially because the theme raises many questions about the origin of the anatomical variations of the cervical spine. Anatomical variation due to mechanical force? Anatomical variation due to specific genetic elements? Anatomical variation that indicates a specific population? In short, this is a much discussed topic, and so I congratulate you. 

However, some points need to be strengthened:

1.  Review the English language;
2.  Write a paragraph on possible genetic involvement leading to anatomical variations or divide the description of genetic involvement into a separate paragraph

For the rest, I believe that this manuscript can contribute to scientific research in physical and forensic anthropology.

Comments on the Quality of English Language

As mentioned above, a more accurate revision of the English language is needed.

Author Response

We are very grateful to Reviewer #2 for the encouraging comments on the topic and for the valuable suggestions to improve the content of the manuscript. Your observations, especially regarding the use of English and the need for a clearer discussion of potential genetic factors involved, helped us reinforce key aspects of the text. These points were carefully considered and addressed in the revised version.

 

1. Comment: Review the English language;

Reply: Thank you for your observation. To ensure the highest quality of language and clarity, we have carefully revised the entire manuscript. Additionally, we utilized an English Language Editing Service to further improve grammar, syntax, and readability (certificate attached).

 

1.  Comment: Write a paragraph on possible genetic involvement leading to anatomical variations or divide the description of genetic involvement into a separate paragraph.

Reply: Thank you for your suggestion. We acknowledge that the potential genetic involvement in the development of osseous variations in C1 could be more clearly structured and emphasized in the text. To address this, we have revised Section 4.2.1 of the Discussion to include a more focused and separate paragraph dedicated to the potential genetic and hereditary influences on the formation of bony bridges. This new paragraph better highlights the role of genetic predisposition, familial clustering, and inbreeding or endogamy—particularly in isolated rural populations such as Corfinio—and places these factors within the broader context of anatomical variation. We believe this restructuring improves the clarity and scientific relevance of the manuscript

Author Response File: Author Response.pdf

Reviewer 3 Report

Comments and Suggestions for Authors

Title: Anatomical Variations of Cervical Spine: Possible Occurrence of Vertebrobasilar Insufficiency in a Skeletal Sample from the Post-Classical Cemetery of Corfinio (XII-XV CE, Italy). 

Authors: Anabel Amores, Carmen Tanga, Maria Carla Somma, Vasco La Salvia, Sonia Antonelli and Joan Viciano   

The present article “Anatomical Variations of Cervical Spine: Possible Occurrence of Vertebrobasilar Insufficiency in a Skeletal Sample from the Post-Classical Cemetery of Corfinio (XII-XV CE, Italy)” presents a valuable contribution to the field of paleopathology and epigenetics. The authors examining the anatomical variations of foramina of the vertebrae of the cervical spine in a skeletal sample (burials) from the post-classical cemetery of Corfinio in Italy.

The methodologies and statistical analysis applied appear sound for the data collected and involve the examination of a skeletal sample with previously estimated sex and age at time of death using the standard osteological methods.

The writing and English language is clear, coherent, and effectively communicates the complexity of the subject matter.

To further enhance the clarity and accessibility of the article, I would suggest the following:

• It would be beneficial to the reader if abbreviations, such as FT, PP, PL, RTF, VA, SCA, BA, and VBI, were already explained at their first occurrence within the main text, in addition to the abbreviation list provided at the end of the manuscript to improve readability and reduce the need for readers to constantly refer to the end of the document.
• In the 4. Discussion section, the initial lines (405-408) appear to be general guidelines for a discussion section and should be removed.
• In line 644, please consider using a different wotd for "exhaustive" (e.g., "comprehensive" or "detailed") to better reflect the inherent limitations of working with skeletal remains.
• The findings for the high prevalence of FT variations in C1 summarized from line 650 onwards could benefit from further in-depth analysis and potential exploration of reasons for these differences within the context of the Corfinio sample (e.g., comparing the Corfinio sample to geographically and temporally similar populations with different activity patterns).
• Adding more information on the cemetery of Corfinio and the population from the XII-XV CE in Italy (e.g., providing more specific details about the likely economic activities and lifestyle of the Corfinio population during the XII-XV CE or any historical information about family groupings within the cemetery, etc.). This additional information would enhance the article's contribution to understanding anatomical diversity in past populations.

Despite these suggestions, the article is a strong and interesting contribution to the field of paleopathology, bioarchaeology and anatomy. The detailed analysis (including its statistics) of anatomical variations of the cervical spine in this skeletal sample provides valuable data for understanding the prevalence and potential etiological factors of these traits in past Italian populations. The study's findings regarding the high prevalence of certain variations, particularly in the C1 vertebra, opens the door for further attention and contributes to the ongoing research on cervical spine anatomy and its implications as well as epigenetics.

I appreciate that the authors acknowledge the limitations of the sample size, which is crucial for maintaining scientific integrity.

I strongly support the publication of this article  in current form; however, with the suggested revisions, this article would be an even more impactful contribution to paleopathological research of prehistoric populations.

Author Response

We deeply appreciate Reviewer #3’s thorough and supportive evaluation, as well as the insightful suggestions aimed at improving the clarity, accessibility, and contextualization of our study. Your comments on abbreviations, the wording of the discussion, and the historical background of the sample have been particularly helpful in refining and enriching our manuscript. All suggestions were addressed to strengthen the scientific contribution of the paper.

• Comment: It would be beneficial to the reader if abbreviations, such as FT, PP, PL, RTF, VA, SCA, BA, and VBI, were already explained at their first occurrence within the main text, in addition to the abbreviation list provided at the end of the manuscript to improve readability and reduce the need for readers to constantly refer to the end of the document.

Reply: In the revised version of the manuscript, all abbreviations are clearly explained at their first occurrence in the main text. Furthermore, in accordance with the journal Heritage guidelines and template, we have included a table listing all abbreviations at the end of the manuscript to facilitate reference and improve overall readability.

• Comment: In the 4. Discussion section, the initial lines (405-408) appear to be general guidelines for a discussion section and should be removed.

Reply: We agree with this comment. The generic introductory sentences in lines 405–408 have been removed to maintain a focused and concise discussion. The revised section now starts directly with the specific interpretation of our findings.

• Comment: In line 644, please consider using a different word for “exhaustive” (e.g., “comprehensive” or “detailed”) to better reflect the inherent limitations of working with skeletal remains.

Reply: Thank you for the stylistic suggestion. We have replaced “exhaustive” with “detailed” to better reflect the limitations of skeletal samples and to avoid overstatement.

• Comment: The findings for the high prevalence of FT variations in C1 summarized from line 650 onwards could benefit from further in-depth analysis and potential exploration of reasons for these differences within the context of the Corfinio sample (e.g., comparing the Corfinio sample to geographically and temporally similar populations with different activity patterns).

Reply: We appreciate the reviewer’s thoughtful suggestion. We agree that a more in-depth contextualization of the findings, particularly concerning the high prevalence of FT variations in C1, would enhance the manuscript.

As shown in the supplementary tables, our study already includes a comparative framework with prevalence data from a wide range of populations—primarily modern clinical samples but also including the few available archaeological studies. These tables are intended to support the uniqueness of our findings by offering a reference point for cross-population analysis. While most existing studies do not provide paleopathological data, our research represents one of the first attempts to compare an archaeological sample with other populations, providing an empirical basis for discussing patterns of anatomical variation in historical context.

We acknowledge that further comparative analysis with geographically and temporally closer archaeological populations—especially those with known differences in activity patterns—would be ideal. However, such datasets are currently scarce. The Corfinio sample thus offers a valuable contribution to the field by helping to build the foundation for future comparisons. As ongoing excavations and analysis at the site continue, additional bioarchaeological and material culture data will hopefully provide deeper insights into the life conditions, occupational stress, and demographic structure of this medieval rural community.

Ultimately, while the present study is primarily descriptive, it raises important hypotheses about the influence of both mechanical factors (e.g., carrying heavy loads) and genetic predisposition in the development of FT and C1 variations. We hope this response clarifies the significance of our findings within the broader anatomical and paleopathological landscape.

 

• Comment: Adding more information on the cemetery of Corfinio and the population from the XII-XV CE in Italy (e.g., providing more specific details about the likely economic activities and lifestyle of the Corfinio population during the XII-XV CE or any historical information about family groupings within the cemetery, etc.). This additional information would enhance the article's contribution to understanding anatomical diversity in past populations.

Reply: We thank the reviewer for this helpful suggestion. While direct evidence about specific economic activities or familial relationships within the Corfinio cemetery is still under investigation, some contextual inferences can be drawn. The burial site demonstrates a long-term and recurrent use, with visible stratigraphy and superposition of graves, indicative of an enduring and relatively stable rural community. Although we lack genetic or demographic confirmation of familial ties, the reuse and localization of the cemetery strongly suggest its use by a close-knit population, possibly with a high degree of consanguinity, as seen in other small, isolated medieval settlements.

Regarding lifestyle, historical data and archaeological evidence from similar rural Italian contexts in the XII–XV centuries indicate subsistence agriculture and manual labor were likely predominant. While further excavation and material analysis at the Corfinio site are ongoing and will eventually provide more specific insights, we believe the high prevalence of FT and C1 variations in our sample may reflect the mechanical demands associated with such lifestyles.

We have clarified these points in the revised manuscript, highlighting both the limitations and the value of our current findings within the broader paleopathological and anatomical contexts. Our study thus contributes to understanding anatomical variation in a post-classical population and serves as a foundation for future interdisciplinary research incorporating bioarchaeological, historical, and genetic data.