Chronic migraines, dizziness or loss of balance could have an unsuspected origin: the genetic heritage of our Neanderthal cousins. An international team led by Kimberly Pomp, researcher at the University of the Philippines Diliman, and Yvens Barbosa Fernandes, neurosurgeon at the Campinas State University in Brazil, highlights a link between the form of the Neanderthal skull and a modern pathology, the Miarformation of Chiari type I.
A prehistoric signature in our skulls
Researchers were interested in type I chiari malformation. In this neurological pathology, part of the cerebellum, called cerebellar tonsils, sags in the spinal channel through the Magnum foramen. This is the opening to the base of the skull. This anatomical anomaly can cause compression of the central nervous system. It then causes various symptoms such as persistent migraines, dizziness, balance disorders and numbness. Certainly the direct cause is known – an abnormally cramped cranial cavity. However, the evolutionary origin of this configuration remained unexplained.
To unravel this mystery, the team used computed tomography of 103 adults, 46 of which had a confirmed diagnosis of type I chiari. Using these images, they created high precision 3D models in order to analyze their morphological characteristics. Their attention was paid to the occipital bone, located at the rear and at the base of the skull.
© K. Plomp et al., 2025Benchmarks analyzed in the study, visible on a 3D model resulting from a healthy individual's skull.
The results reveal a clear difference between the two groups. In affected patients, the occipital bone is smaller and has a lower tilt. This form reduces the space necessary to house the cerebellum and increases the probability that it is pushed downwards. “” The posterior pit that shelters the cerebellum is lower, which can cause compression “Specifies Yvens Barbosa Fernandes. These observations suggest a structural heritage which could find its roots in the cranial morphology of certain human ancestors.
An amazing resemblance to Neanderthals
To understand the origin of the particular form observed in patients with Chiari, researchers have extended their study to fossils of missing human species. They compared the 3D models of modern skulls with those of eight fossil specimens of Homo Archaic Sapiens, Homo Erectus, Homo Heidelbergensis and Homo Neanderthalensis. Their geometric analysis therefore focused on the basis of the skull.
The results are striking. The skulls of patients with chiari share a morphology of the cranial base very close to that of the Neanderthal skull. More specifically, their occipital bone is more flattened and the posterior fossa of the skull is less deep, which limits space for the cerebellum. On the other hand, individuals without malformation present more rounded and angled forms, characteristic of modern homo sapiens.
This resemblance could be explained by genetic inheritances dating back to the crossings between Homo sapiens and Neanderthals, about 50,000 years ago. “” This illustrates a way in which Neanderthal genes continue to influence our biology, sometimes in a deleterious way “Observes Kimberly Pump. At Neanderthal, this structure was undoubtedly used to house more powerful masticator muscles and sinuses adapted to cold climates. But with the expansion of the modern human brain, this configuration can today become problematic. A reduced space at the base of the skull increases the risk of cerebellar compression, transforming an evolutionary asset passed into contemporary vulnerability.
Towards a genetic confirmation of our Neanderthal heritage
The morphological resemblances between modern skulls and Neanderthals led the researchers to revisit the so -called archaic intrrogation hypothesis. This concept designates the integration of DNA fragments from extinguished human species, following crosses with Homo sapiens about 50,000 years ago. Initially, the hypothesis included generated genes not only of Neanderthals, but also Homo Erectus and Homo Heidelbergensis. Current data refine this scenario. “” Our results indicate that only Neanderthals seem involved “, Specify the authors.
© K. Plomp et al., 2025
3D models of the skulls of Homo Sapiens (above) and Homo Neanderthalensis (below) used for comparison.
This revision is based on the absence of morphological correlations between the skulls of patients with chiari and those of other homo species analyzed. The shared features specifically concern the configuration of the Neanderthal skull, which directs research towards a targeted genetic origin.
The next step promises to be decisive: to analyze the genome of patients with chiari to detect neanderthal DNA sequences called “introgured”. These archaic portions could code proteins influencing the development of occipital bone or cerebellar growth. Such a discovery would open the way to early detection in individuals at risk, before the appearance of symptoms. It would also make it possible to better understand the genetic factors that condition the success or failure of surgical interventions, often heavy, necessary in severe cases. By identifying these markers, clinicians could adapt their monitoring strategies and offer more preventive and personalized medicine.
When evolution still weighs on our daily life which questions our future
The study highlights an often ignored reality. Human evolution has never been a linear progression towards perfection, but a succession of adaptations and compromises. The morphology of the Neanderthal skull, shaped to resist harsh winters and intense physical constraints, is unsuitable for the larger brains of modern homo sapiens and less physically demanding lifestyles. What constituted an evolutionary advantage yesterday can become a vulnerability today.
For patients with chiari malformation, understanding this Neanderthal heritage offers a new dimension on their condition. This puts their pathology in a broader evolving context. Ultimately, one could improve management, as mentioned above. “” It is fascinating to note that anatomical features inherited from extinct species still influence contemporary medical practice », Underlines Kimberly Pump.
Archaic DNA, which still represents 1 to 2 % of the genome of non -African populations, reveals here a less neutral facet of its inheritance. After links established with the immune system and certain modern diseases, it is now the very architecture of our cranial box that is involved. A striking reminder that the traces of our evolutionary past continue to influence our daily lives.
Source: Kimberly Pomp, et al., “A Test of the Archaic Homo Hypothesis for the chiari malformation type I ”. Evolution, Medicine, and Public Health”, 2025;, EOAF009.

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