Gyrification is the developmental process by which the surface of the cerebral cortex folds into ridges known as gyri and grooves called sulci, creating the convoluted structure characteristic of the mammalian brain, particularly in humans.[1] This folding dramatically increases the cortical surface area within the confines of the skull, enabling greater neuronal density and computational capacity without proportionally enlarging brain volume.[2]The process begins around 20 weeks of gestation in humans, with primary sulci forming first in the third trimester, followed by secondary and tertiary folds that continue postnatally, including a notable burst of gyrification at birth representing about 21% of perinatal growth.[3] It arises primarily from a mechanicalinstability driven by the differential tangential expansion of the outer gray matter relative to the underlying white matter, where compressive forces lead to buckling and the emergence of patterned folds.[2] Genetic factors, such as genes involved in neuronal proliferation (e.g., ASPM and LIS1), and prolonged neurogenesis compared to other primates contribute to the species-specific patterns observed.[1]Gyrification patterns are highly consistent across individuals yet regionally variable, with greater folding in areas like the prefrontal and parietal cortices associated with higher general cognitive ability, explaining up to 11.5% of variance in intelligence metrics.[4] Disruptions in this process, such as in preterm birth or neurodevelopmental disorders like lissencephaly, can lead to smooth brains (agyria) and cognitive impairments, underscoring its role as a biomarker for brain health and evolutionary adaptation.[3][1] Overall, gyrification reflects the interplay of biomechanical, genetic, and environmental influences that shape functional brain organization.[1]
Fundamentals
Definition and Process
Gyrification refers to the biological process by which the cerebral cortex develops its characteristic folds, consisting of gyri (elevated ridges) and sulci (depressed grooves), to substantially expand the cortical surface area while fitting within the constrained volume of the skull.[5] This folding is essential for accommodating a greater number of neurons and neural connections without proportionally enlarging the brain's overall size.[6]The process primarily involves the neocortex, the outer portion of the cerebral cortex distinguished by its six-layered architecture (layers I through VI), where neuronal density is highest in the supragranular layers (II and III).[6] These layers undergo expansion that leads to the buckling and compression of the cortical sheet, effectively packing the expanded surface into a compact, convoluted form that increases the total area by a factor of approximately three compared to an unfolded state.[2]Early observations of these cortical convolutions date to the 18th century, with French anatomist Félix Vicq d'Azyr providing detailed descriptions of key features, including the central sulcus and the precentral and postcentral gyri, laying foundational work for later neuroanatomical studies.[7] In the typical adult human brain, this gyrified structure yields a cerebral cortical surface area of approximately 1,500–2,000 cm², housing roughly 16 billion neurons across its folded expanse.[8][9]
Functional Importance
Gyrification significantly expands the cortical surface area within the constrained volume of the skull, enabling a greater number of neurons to be accommodated without proportional increases in brain size. In humans, the gyrification index, which measures the ratio of the actual cortical surface area to the outer hull surface area, averages approximately 2.3, effectively multiplying the surface area by 2-3 times compared to a hypothetical smooth cortex of equivalent volume. This expansion supports higher neural density and computational capacity while adhering to biomechanical limits imposed by the cranium during development and evolution.[10]The folding pattern facilitated by gyrification optimizes neural connectivity by minimizing average axonal lengths, which in turn reduces signal propagation delays across cortical networks. By bringing distant cortical regions into closer proximity through sulci and gyri, axons can form more efficient connections, potentially decreasing conduction times and enhancing overall information processing speed. This structural arrangement contributes to the brain's ability to handle complex computations with lower metabolic and temporal costs.Additionally, gyrification provides mechanical protection to the cortex by distributing and absorbing stresses during head movements or impacts. The convoluted folds act as a damping mechanism, reducing the transmission of mechanical forces to underlying neural tissue and mitigating potential damage from acceleration or deformation. This protective role is particularly evident in larger-brained mammals, where increased folding correlates with enhanced resilience to trauma.Higher degrees of gyrification are associated with advanced cognitive abilities, including executive functions and general intelligence, particularly in primates. Studies in humans show that regional gyrification in areas like the prefrontal and parietal cortices positively correlates with cognitive performance, explaining up to 11.5% of variance in general intelligence scores.[11] This pattern extends across primate species, where greater gyrification supports sophisticated behaviors and problem-solving capabilities.[4]
Development in the Human Brain
Prenatal Stages
Gyrification in the human brain initiates during early fetal development, around gestational week 20, when the first primary sulci begin to form through the radial and tangential migration of neurons toward the cortical plate.[12] This phase establishes the foundational grooves and ridges on the cerebral surface, transitioning the initially smooth neocortex into a more complex structure.[13]As gestation progresses, secondary folds emerge around weeks 32-34 and tertiary folds form near term (36-40 weeks), driven primarily by the tangential expansion of the cortical plate, which increases neuronal density and surface area.[14] This expansion creates deeper invaginations and broader gyri, particularly in regions such as the parietal and occipital lobes, where volume growth outpaces that in the frontal areas.[15]Critical milestones in this timeline include the development of sulcal pits, which represent the initial deep points of sulcal indentation and act as anchors or origins for the propagation of folds across the cortical surface.[16] By gestational week 36, the major sulcal and gyral patterns are predominantly established, setting the stage for the brain's mature convoluted architecture at birth.[17]A 2023 review emphasizes the contribution of intermediate progenitor cells, which proliferate in the subventricular zone to amplify neuronal output, thereby supporting the cellular proliferation necessary for cortical folding.[18] This process continues with refinements into the postnatal period.
Postnatal Maturation
Following birth, the humancerebral cortex undergoes a rapid initial burst of gyrification, with a notable 21.4% increase occurring immediately at birth (around 37 weeks post-conception), representing about 21% of perinatal growth. This surge is evident from longitudinal MRI data across a large perinatal cohort as of 2025, highlighting the perinatal period as a critical window for cortical folding acceleration beyond prenatal foundations.[3]Subsequent postnatal refinement involves progressive sulcal deepening and increases in the gyrification index (GI), particularly from infancy through early childhood, with notable expansion observed between 6 and 24 months of age. These changes continue to mature until approximately ages 2 to 4 years, after which the GI largely stabilizes by adolescence, reflecting the consolidation of cortical architecture.[19]Postnatal gyrification is modulated by environmental factors, including nutrition and sensory experiences, which can influence cortical folding patterns during this plastic period. For instance, nutritional deficiencies have been linked to altered cortical folding, as suggested by studies on malnutrition models like anorexia nervosa.[20] Disruptions such as preterm birth further impair this process, with studies showing reduced cortical folding in preterm neonates associated with underlying white matter connectivity anomalies, potentially leading to long-term neurodevelopmental risks.[21]In adulthood, gyrification exhibits minimal ongoing changes, maintaining relative stability across the lifespan until subtle declines emerge in aging, characterized by gradual reductions in GI that correlate with cortical atrophy. These age-related shifts are modest compared to earlier developmental phases, emphasizing the durability of postnatal cortical folding once established.[22][23]
Evolutionary and Comparative Aspects
Across Mammalian Species
Gyrification varies markedly across mammalian species, reflecting differences in brain size and evolutionary adaptations. The degree of cortical folding is commonly quantified using the gyrification index (GI), defined as the ratio of the total neocortical surface area (including sulci) to the exposed surface area. In lissencephalic species such as rodents, the GI remains low, around 1.03 in mice, indicating minimal cortical convolution.[24] In contrast, gyrencephalic mammals like cetaceans display highly convoluted cortices, with GI values exceeding 5, as exemplified by the Pacific pilot whale's GI of 5.55. Elephants also exhibit substantial gyrification, achieving a GI of 3.81. Across 103 mammalian species, GI generally scales positively with brain mass, accounting for much of the variability in folding complexity, although outliers like humans and manatees deviate from this trend.[24][24]Phylogenetic differences manifest in distinct folding patterns. Primates often show asymmetric gyrification, with notable left-right differences in sulcal depth and orientation, as observed in baboons where cerebral folding asymmetries align with functional lateralization. Elephants possess unique temporal lobe expansions, featuring a disproportionately large temporal region that protrudes laterally and includes three parallel temporal gyri—superior, middle, and inferior—contrasting with the more compact temporal structures in other large mammals.[25][26]Despite these variations, core sulcal patterns exhibit homology across mammals, with primary sulci serving as conserved landmarks that delineate fundamental cortical territories even in species with simple folding. Gyrification complexity, however, escalates with increasing brain size, transitioning from smooth surfaces in small-brained rodents to intricate convolutions in large-brained cetaceans and elephants. Recent research underscores ferrets as effective models for studying gyrification, owing to their gyrencephalic brains that develop folding patterns akin to those in primates, including humans, facilitating genetic and developmental investigations.[27][24]00837-4)
Evolutionary Benefits
Gyrification emerged as a keyadaptation enabling encephalization in larger-brained mammals, particularly hominids, by allowing an expanded cortical surface area to fit within the confined volume of the skull. This folding mechanism increases the cortical area by approximately three times compared to the inner skull surface, accommodating more neurons without proportionally enlarging the cranium. In bipedal hominids, this was crucial for managing head size during birth, as upright locomotion narrowed the pelvic canal, imposing constraints on fetal head dimensions; gyrification thus facilitated the evolutionary increase in brain size while preserving obstetric viability.[28][29]By enhancing white matter integration through shorter axonal connections, gyrification improved neural efficiency, supporting the development of complex behaviors such as tool use in Homo sapiens. The folded cortex reduces the average length of neural wiring, promoting denser interconnectivity and faster information processing across brain regions, which correlates with advanced cognitive capacities observed in modern humans. This structural optimization minimizes the ratio of white to gray matter volume, enabling more efficient signal propagation essential for intricate motor and cognitive tasks.[29]Despite these advantages, gyrification involves trade-offs, including elevated metabolic costs due to the brain's overall energy demands, which consume about 20% of the body's resources in humans. However, the folding reduces conduction delays—typically 1–5 ms across the neocortex—by shortening pathways, thereby accelerating processing speeds at a lower energetic penalty per connection compared to unfolded brains. Fossil endocasts reveal this progression: early australopiths like Australopithecus (ca. 4–2 Ma) exhibited sulcal patterns akin to great apes with limited complexity, while brain size and gyrification intensified threefold in the genus Homo over the subsequent 2–3 million years, culminating in the highly folded modern human brain.[29][30][31]
Theories and Mechanisms
Mechanical Buckling Theory
The mechanical buckling theory explains gyrification as a mechanical instability arising from the differential tangential expansion of the cerebral cortex relative to the underlying white matter. The outer cortical layer grows faster than the inner layers during development, generating compressive tangential forces that cause the compliant cortex to buckle against the stiffer white matter base, thereby forming the characteristic folds of gyri and sulci. This core concept was originally proposed based on analyses of pathological conditions and experimental manipulations in animal models, highlighting how constrained expansion leads to folding as a stress-relief mechanism.[32][1]The mathematical basis of the theory relies on classical elasticity principles applied to a bilayer structure, where the cortex acts as a thin elastic film on a more rigid substrate. Buckling initiates when the compressive strain exceeds a critical threshold.[2]Experimental validation includes in vitro simulations using elastomer gels to replicate brain tissue properties, where controlled swelling induces compressive strains, resulting in folding patterns analogous to cortical gyrification. These gel models demonstrate that buckling occurs nonlinearly, producing hierarchical folds dependent on layer stiffness and geometry, mirroring observations in mammalian brains.[2]Recent models (as of 2025) further link mechanical buckling to axonal fiber organization, suggesting that stresses from constrained cortical expansion during folding influence white matter tract formation.[33]
Axonal Tension Theory
The axonal tension theory posits that mechanical tension generated by growing axons in the subcortical white matter pulls strongly interconnected cortical regions closer together, thereby promoting the formation of gyri while allowing less connected areas to separate and form sulci along the pathways of these connections. This process is driven by the tendency of axons to minimize their overall length, effectively tethering distant cortical patches and inducing folding patterns that align with underlying connectivity.[34]Computational simulations incorporating axonal tension as a perturbation to mechanical buckling have demonstrated that this mechanism can influence fold placement.[35] A key parameter in these models is the minimization of axonal wiring length, optimizing the efficiency of neural connections during development.[35]Despite these insights, the theory faces critiques for its limited explanatory power regarding primary sulci, which form early in gestation before extensive axonal arborization, suggesting it is more effective for refining secondary and tertiary folds.[36] Experimental evidence from tissue dissections indicates that axonal tension is primarily radial and circumferential within gyri cores rather than directed across prospective folds, further constraining its role as a primary driver.[36] This mechanism integrates with broader mechanical properties of cortical tissue, such as stiffness gradients, to modulate folding outcomes.[34]
Differential Expansion Theory
The differential expansion theory posits that gyrification arises from mismatched growth rates between the outer and inner layers of the developing cerebral cortex, where the outer layers expand more rapidly tangentially than the inner layers, generating compressive forces that drive folding.[37] This process begins prenatally as neural progenitors in the outer subventricular zone proliferate at higher rates, leading to greater surface area expansion in supragranular layers compared to the subcortical white matter or inner cortical layers, which constrains this growth and induces buckling into gyri and sulci.[2] The resulting folds optimize the packing of an enlarged cortical sheet within the skull while maintaining connectivity.[1]Finite element simulations of this model demonstrate that a growth rate disparity (Δg) exceeding 0.2—representing a relative tangential expansion of the outer cortex by more than 20% over the inner layers—triggers mechanical instability and the onset of folding patterns.[2] In these simulations, the cortex is modeled as a viscoelastic shell with layer-specific growth tensors, showing that instabilities emerge nonlinearly when expansion constraints from slower-growing inner structures compress the outer layer, producing wavelength-specific folds that match observed gyrification indices in mammals.[2]Empirical support for this theory comes from animal models, where variations in progenitorproliferation influence fold positioning.[1]This theory integrates with mechanical buckling models by specifying the layer-specific differentials as the primary driver of compressive stresses, offering a unified explanation for how intrinsic growth mismatches initiate and pattern cortical folding across species.[1]
Factors Influencing Gyrification
Mechanical Factors
Mechanical factors play a pivotal role in modulating gyrification by influencing the physical dynamics of cortical development. The thickness of the cerebral cortex, typically ranging from 2 to 3 mm in humans, directly affects folding patterns; a thinner cortex correlates with a higher gyrification index (GI) because it lowers the resistance to buckling under compressive stresses generated by differential growth.[38][39] This relationship arises as thinner tissue layers deform more readily, leading to increased sulcal depth and gyral complexity compared to thicker cortices, which suppress folding and result in lower GI values.[39]Rapid growth dynamics further drive gyrification through mismatched expansion rates between cortical layers. In the third trimester of gestation, tangential expansion of the cortical surface accelerates dramatically, achieving up to a 2.33-fold increase (approximately 233%) from 31 to 37 weeks postmenstrual age, outpacing slower radial growth in subcortical regions.[21] This differential expansion induces compressive forces that promote the emergence of folds, with the highest rates observed in regions like the parietal, temporal, and occipital lobes undergoing intense folding.[21]External constraints from the skull also shape gyrification outcomes. The geometry of the cranial vault limits volumetric expansion, directing cortical growth and influencing the orientation of folds to align with the skull's contours, thereby determining sulcal and gyral patterns in humans.[40] These biophysical influences contribute to the buckling processes central to gyrification, as explored in mechanical buckling theory.Advancements in modeling have enhanced understanding of these factors. A 2023 computational framework employs multiplicative decomposition of the deformation gradient into elastic and growth components—effectively simulating inelastic-like behavior in soft tissue growth and atrophy—to replicate realistic folding dynamics and hierarchical patterns in gyrification.[41] Such models demonstrate how regional variations in growth tensors (e.g., 4.5-fold volume increase in gray matter) interact with tissue stiffness to produce observed cortical convolutions.[41]
Genetic Factors
Gyrification patterns in the cerebral cortex are significantly influenced by genetic factors, with heritability estimates derived from twin studies indicating a substantial genetic contribution to variability in the gyrification index (GI). Monozygotic twin studies have reported heritability ranging from 40% to 80% for cortical folding measures, including GI, highlighting the role of additive genetic effects in shaping sulcal and gyral formation across individuals.[42][43]Key genes such as Trnp1 (TMF-regulated nuclear protein 1) play a critical role in regulating neural progenitorproliferation during cortical development. Trnp1 maintains high levels of self-renewing apical radial glial cells to promote tangential expansion of the cortex, while its downregulation enhances the production of basal progenitors, driving radial expansion and the emergence of folding in mammalian brains. In mouse models, disruptions to Trnp1 function, including loss-of-function mutations, alter progenitor dynamics by reducing Trnp1 levels, which increases basal progenitors and induces cortical folding, contrasting with the smoother cortex observed under high Trnp1 expression.[44][45]The LIS1 gene, encoding a regulator of cytoplasmic dynein and neuronal migration, is another pivotal factor in gyrification. Mutations in LIS1 impair radial neuronal migration, leading to defective gyral formation and smooth brain phenotypes in humans and animal models. Orthologs of LIS1 are highly conserved across mammals, from rodents to primates, underscoring its essential role in establishing conserved sulcal patterning during braindevelopment.[46][47]
Cellular and Molecular Determinants
Radial glial cells (RGCs) form the primary scaffold for neuronal migration during cortical development, with their apical and basal processes guiding post-mitotic neurons to appropriate layers and influencing the initial formation of cortical folds. In gyrencephalic species, basal RGCs (bRGCs) detach from the ventricular surface and accumulate in the subventricular zone (SVZ), where their proliferative dynamics drive tangential expansion of the cortical sheet and contribute to primary sulcal formation.[48][49]Signaling pathways involving fibroblast growth factor (FGF) and Sonic hedgehog (Shh) are essential for regulating progenitor proliferation and cortical folding. FGF signaling, particularly through FGF2 and FGF8, enhances bRGC density and self-renewal; for instance, its overexpression in ferrets increases bRGC numbers and induces excessive folding patterns akin to polymicrogyria.[49] Shh gradients promote the expansion of basal progenitors by activating GLI transcription factors, with constitutive Shh activation elevating bRGC and intermediate progenitor cell (IPC) populations by approximately 1.6-fold in mouse models, thereby inducing neocortical folding in regions that are typically smooth.[48] Disruptions in these gradients, such as Shh inhibition, reduce progenitor pools, diminish tangential expansion, and result in a flattened cortical surface.[50]Basal progenitors, including bRGCs and basal IPCs, amplify neuronal output in gyrencephalic species by undergoing multiple symmetric neurogenic divisions, substantially increasing the production of upper-layer neurons compared to lissencephalic mammals where such amplification is limited. In human and primate cortices, this progenitor expansion leads to a several-fold rise in neuron numbers, with bRGCs capable of up to six proliferative cycles that support the rapid growth required for gyrification.[51][49] For example, overexpression of human-specific factors like ARHGAP11B in marmoset models boosts bRGC proliferation and upper-layer neuron output, promoting gyrencephalic folding.[52]A 2023 review underscores the pivotal role of intermediate progenitors in human-specific gyrification bursts, noting their increased diversity and proliferation during mid-gestational stages, driven by pathways like NOTCH and Shh, which enable the characteristic folding patterns of the human neocortex.[49] Mutations in genes such as TMEM161B, which disrupt Shh signaling in these progenitors, have been linked to impaired gyration, highlighting their mechanistic importance.[53]
Abnormal Gyrification in Disorders
Lissencephaly
Lissencephaly, derived from the Greek words for "smooth brain," is a rare congenital malformation disorder characterized by absent or severely reduced cortical folding, resulting in a nearly smooth cerebral surface and a gyrification index typically below 2. This underfolding arises primarily from disruptions in neuronal migration during early brain development, leading to a thick, disorganized cortex with fewer and broader gyri. Affected individuals commonly experience profound intellectual disability, intractable seizures, developmental delays, and motor impairments due to the reduced surface area for neuronal connections and impaired cortical organization.[54][55][56]The condition stems from defective radial and tangential migration of neurons from the periventricular germinal zones to the cortical plate, a process that normally peaks between 12 and 24 weeks of gestation. Mutations in genes such as LIS1 (encoding platelet-activating factor acetylhydrolase 1B) and DCX (encoding doublecortin) are primary causes, as these proteins regulate cytoskeletal dynamics essential for neuronal motility and positioning; for instance, LIS1haploinsufficiency impairs dynein-mediated transport, while DCX mutations disrupt microtubule stabilization. These genetic alterations, often inherited in autosomal dominant or X-linked patterns, halt migration prematurely, preventing proper layering and gyrification; detailed mechanisms of these genetic factors are discussed in the Genetic Factors section. Non-genetic factors like intrauterine infections or vascular disruptions can also contribute, though genetic etiologies predominate.[57][47][58]Lissencephaly is classified into two main types based on etiology and pathology: classical (Type I), which features agyria or pachygyria with a four-layered cortex due to arrested migration, and cobblestone (Type II), characterized by irregular, pebbled cortical surface from overmigration and breaches in the glial scaffold, often linked to congenital muscular dystrophies. Type I tends to present with more uniform severity, including microcephaly and early-onset epilepsy, while Type II shows greater variability, frequently accompanied by cerebellar and ocular abnormalities. Diagnosis relies on magnetic resonance imaging (MRI), which reveals a smooth brain silhouette with agyria (complete absence of sulci) or pachygyria (wide, flat gyri >1.5 cm apart), thickened cortex (up to 20 mm), and shallow sylvian fissures; prenatal ultrasound may detect it from 18 weeks gestation. The incidence is approximately 1 in 100,000 live births, with Type I accounting for the majority of cases.[54][59][60]
Polymicrogyria
Polymicrogyria is a malformation of cortical development characterized by excessive, shallow gyrification that results in multiple small, irregular gyri and disrupted cortical layering. This hyper-folding pattern impairs the normal six-layered architecture of the neocortex, often presenting with a bumpy or lumpy surface appearance on imaging. Unlike reduced gyrification in other conditions, polymicrogyria features an overabundance of miniature folds separated by shallow sulci, leading to regionally increased cortical surface complexity. It most commonly manifests as bilateral perisylvian involvement, affecting the frontal, parietal, and temporal lobes around the Sylvian fissure in approximately 60-80% of cases.[61][62][63]The condition arises from post-migratory disruptions during gestational weeks 16 to 24, a critical period for cortical organization following neuronal migration. Genetic etiologies include de novo or inherited mutations, notably in the PIK3R2 gene, which encodes a regulatory subunit of phosphoinositide 3-kinase and contributes to abnormal activation of the PI3K-AKT-mTOR pathway, promoting excessive neuronal proliferation and folding anomalies. Ischemic causes, such as prenatal vascular insults or hypoxia, can similarly trigger polymicrogyria by damaging the developing leptomeninges and subplate, leading to over-migration of neurons and simplified gyral formation. These mechanisms often involve brief interruptions in late-stage cortical development rather than prolonged defects. Disruptions in cellular migration underlie these processes, as explored in cellular and molecular determinants.[64][65][62]Symptoms typically include epilepsy, affecting 40-90% of individuals and often onset in infancy with pharmacoresistant seizures, as well as speech and language delays stemming from oropharyngeal dysfunction and dysarthria in up to 94% of cases. Additional manifestations encompass motor delays, cognitive impairment, and spasticity, with severity correlating to the extent of cortical involvement. Polymicrogyria accounts for about 16% of malformations of cortical development, with a population-based prevalence of approximately 2.3 per 10,000 children.[66][62][67]Recent studies from 2023 have quantified gyrification anomalies in fetuses with polymicrogyria using MRI, revealing distinct deviations from normal folding patterns that can be exacerbated by preterm birth complications, such as disrupted late-gestational expansion and stress on cortical layers. These findings underscore the vulnerability of gyrification to perinatal insults in preterm infants, potentially worsening polymicrogyric features.[68]
Autism Spectrum Disorder
In autism spectrum disorder (ASD), altered gyrification patterns are evident from early childhood, with longitudinal magnetic resonance imaging (MRI) studies revealing regionally higher local gyrification index (LGI) values in frontal and temporal cortices among toddlers and young children. For instance, in boys with ASD exhibiting normal brain size, LGI increased significantly from ages 3 to 5 years in the right inferior frontal gyrus and right inferior temporal gyrus, contrasting with stable or decreasing LGI in typically developing peers during the same period. These elevations reflect atypical cortical folding that emerges during postnatal development, potentially linked to disrupted maturation processes observed in the first few years of life.[69]Such increased gyrification has implications for core ASD symptoms, particularly social deficits, as evidenced by correlations between greater age-related LGI increases and higher scores on the Social Responsiveness Scale (SRS) within ASD cohorts. Children with more pronounced social impairments, as measured by elevated SRS totals, showed steeper gyrification trajectories in regions like the left precentral gyrus and right medial orbitofrontal gyrus. Affected children exhibit elevated cortical folding compared to controls, underscoring the scale of these deviations and their potential role in connectivity disruptions that contribute to social challenges.[70]Mechanistically, these gyrification changes are driven by early brain overgrowth in the first two years of life, characterized by excessive cortical surface area expansion that necessitates additional folding to accommodate the enlarged tissue within the confines of the skull. MRI data from ASD children at age 2 years indicate significantly larger cortical surface area across frontal, temporal, and parieto-occipital lobes relative to controls, without corresponding increases in cortical thickness, thereby promoting heightened gyrification as a compensatory response. This overgrowth pattern aligns with broader postnatal cortical expansion but is accelerated and atypical in ASD.[71]Recent investigations, including those up to 2025, highlight associations between these gyrification alterations and microstructural changes in underlying white matter, suggesting interconnected neurodevelopmental pathways. Seminal work demonstrates positive correlations between elevated LGI in sensorimotor regions and increased axial diffusivity in short-range white matter tracts adjacent to the cortex, indicating that enhanced folding may coincide with atypical axonal organization or myelination in ASD. Ongoing multilevel meta-analyses continue to explore these links, revealing widespread white matter microstructure variations that may influence or result from the observed cortical folding excesses.[72][73]
Schizophrenia
Schizophrenia is characterized by abnormalities in cortical gyrification, particularly reduced gyrification index (GI) in prefrontal regions, which serves as a neurodevelopmental marker of the disorder. Studies have reported approximately 5-10% reductions in local GI in areas such as the left caudal superior and middle frontal regions, as well as the insula, in patients with schizophrenia compared to healthy controls.[74] These reductions are evident from adolescence onward, with abnormalities emerging around age 16 and progressing over subsequent years, aligning with the typical onset of psychotic symptoms during this developmental period.[75] Meta-analyses confirm a modest overall reduction in GI, with effect sizes around Hedges' g = -0.2, predominantly in fronto-temporal areas.[76]These gyrification deficits are linked to disruptions in underlying neurodevelopmental processes, including axonal tension and synaptic pruning, which may contribute to altered cortical folding. According to the axonal tension theory, imbalances in tangential forces from axonal connectivity can impair gyrification, a mechanism implicated in schizophrenia's connectivity abnormalities.[77] Excessive or aberrant synaptic pruning during adolescence, a key feature in schizophrenia, further exacerbates these changes by reducing cortical surface area and connectivity.[78] Reduced GI in prefrontal and temporal regions correlates with symptom severity, particularly negative symptoms like social withdrawal and cognitive disorganization, as lower folding patterns reflect diminished neural efficiency in these areas.[79]Meta-analyses of structural neuroimaging provide robust evidence for progressive cortical thinning post-symptom onset in schizophrenia, which accompanies and may interact with gyrification reductions. Patients exhibit decreased cortical thickness in frontal and insular regions, with greater thinning observed in chronic stages compared to first-episode psychosis, indicating ongoing neurodegenerative processes after illness onset.[80] Longitudinal data show that this thinning accelerates in the years following psychosis debut, particularly in fronto-temporal cortices, and is more pronounced than in healthy individuals.[81]Recent research highlights connections between gyrification abnormalities in schizophrenia and cognitive decline, mediated by metabolic factors such as type 2 diabetes mellitus (T2DM), which has a higher prevalence in this population. Studies from 2024 and 2025 demonstrate that reduced GI in temporal regions mediates cognitive impairments like working memory deficits in T2DM, paralleling patterns in schizophrenia where T2DM comorbidity exacerbates neurocognitive decline.[82] This overlap suggests shared mechanisms, including insulin resistance and inflammation, that amplify gyrification-related vulnerabilities and contribute to poorer cognitive outcomes in schizophrenia patients with metabolic dysregulation.[83]
Zika Virus and Infectious Malformations
The Zika virus (ZIKV), a flavivirus transmitted primarily by Aedes mosquitoes, poses a significant risk to fetal brain development when maternal infection occurs during pregnancy, particularly in the first trimester. ZIKV crosses the placental barrier and preferentially targets radial glial cells, which serve as neural progenitors in the ventricular zone of the developing cortex. This infection disrupts the proliferative capacity of these cells, leading to a reduced pool of neural progenitors and impaired neurogenesis, ultimately hindering the tangential expansion and radial migration necessary for proper cortical folding and gyrification.[84][85]In affected fetuses, ZIKV infection results in simplified gyral patterns resembling lissencephaly, characterized by fewer and shallower sulci, alongside substantial reductions in brain volume—often up to 30% less than expected for gestational age in severe cases. These outcomes manifest as microcephaly at birth, with neuroimaging revealing agyria-pachygyria, white matter hypoplasia, and ventriculomegaly; in severe instances, the gyrification index falls below 1.5, indicating profoundly diminished cortical folding.[86][87][88]The 2015–2016 ZIKV outbreak in the Americas, originating in Brazil, was linked to over 5,000 suspected microcephaly cases by early 2016, with the majority concentrated in northeastern Brazil where transmission peaked. Confirmed congenital Zika syndrome cases exceeded 2,700 across 24 countries by 2017, driven by vertical transmission rates estimated at 5–15% in infected pregnancies. Endemic transmission persists in tropical regions with Aedes aegypti prevalence, sustaining risks for sporadic outbreaks and associated malformations.[89][90]Long-term magnetic resonance imaging (MRI) studies from 2023 to 2025 demonstrate that these disruptions endure into childhood, with persistent sulcal shallowing, enlarged cerebrospinal fluid spaces, and ongoing volume loss observed in affected children, even among those without initial microcephaly. Follow-up scans in cohorts exposed perinatally reveal that 70–80% exhibit stable or progressive cortical simplification, correlating with neurodevelopmental delays and emphasizing the need for lifelong monitoring.[91][92]
Measurement Techniques
Gyrification Index
The Gyrification Index (GI) is a fundamental quantitative measure used to evaluate the extent of cortical folding in the mammalian brain, particularly in humans, by comparing the convoluted surface to a hypothetical smooth envelope. Introduced by Zilles et al. in 1988, this metric originated from analyses of postmortem brain sections and provides both global assessments of overall folding and local evaluations of regional variations.[93] It has since become a cornerstone in neuroimaging studies for characterizing brain morphology.The GI is calculated from two-dimensional coronal slices of the brain, where it represents the ratio of the length of the inner cortical contour—encompassing the full extent of gyri and sulci—to the length of the outer hull contour, which approximates the brain's smoothed perimeter excluding folds. This is formally expressed as\text{GI} = \frac{L_{\text{inner}}}{L_{\text{outer}}}with L_{\text{inner}} denoting the total contour length of the pial surface and L_{\text{outer}} the perimeter of the convex hull. In human brains, local GI values typically range from 1.5 to 3.5 across cortical regions, while the average global GI in healthy adults is approximately 2.6.[93][94][95]Applications of the GI extend to monitoring cortical development, where values rise sharply from near 1.0 in early fetuses to adult levels by late gestation, stabilizing shortly after birth to reflect completed gyrification processes. This tracking aids in understanding ontogenetic changes and interspecies differences in brain evolution.[95]However, the GI's reliance on 2D planar measurements introduces orientation-dependent bias, as slice selection can alter contour lengths and overlook the brain's inherent three-dimensional structure. Furthermore, it shows reduced sensitivity to deeply embedded sulci, since the outer hull may not adequately incorporate their full depth, potentially underestimating overall folding complexity in such areas.[96]
Computational and Imaging Methods
Computational methods for assessing gyrification have advanced significantly through automated software tools that enable precise reconstruction and quantification of cortical folding from magnetic resonance imaging (MRI) data. FreeSurfer, a widely used open-source suite, facilitates automated sulcal tracing by reconstructing the cortical surface from structural MRI, identifying sulcal fundi and gyral crowns through iterative segmentation and topological correction processes. This allows for the computation of metrics such as sulcal depth and local gyrification index (lGI) without manual intervention, improving reproducibility across studies. Complementing these approaches, fractal dimension (FD) serves as a scale-invariant measure of cortical complexity, capturing the self-similar folding patterns of the cerebral surface; typical FD values for the human cortex range from approximately 2.5 to 2.8, reflecting the intricate, non-integer dimensionality of folded structures embedded in three-dimensional space.Recent advances in multimodal imaging have linked gyrification patterns to underlying white matter microstructure, particularly in vulnerable populations like preterm infants. A 2022 study utilizing diffusion MRI demonstrated that higher breast milk exposure correlates with increased gyrification index, cortical thickness, and sulcal depth in preterm infants, alongside improved white matter microstructure as measured by fractional anisotropy, suggesting nutritional influences on synchronized gray and white matter development. Building on such findings, 2024 research in neonates with congenital heart disease highlighted associations between reduced gyrification and altered white matter volumes, underscoring the interplay between cortical folding and subcortical connectivity detectable via diffusion tensor imaging.Surface-based morphometry (SBM) extends traditional gyrification assessment by mapping local variations in lGI across the cortical mantle, enabling vertex-wise analysis of folding heterogeneity. In SBM pipelines, such as those implemented in FreeSurfer or custom tools, the cortical surface is parameterized into a spherical mesh, allowing computation of lGI as the ratio of buried cortical area within spherical regions of interest to the exposed outer surface, revealing regional differences in folding intensity. Machine learning techniques further enhance prediction of gyrification patterns by integrating finite element simulations with neural networks; for instance, convolutional models trained on simulated and empirical MRI data can forecast complex folding morphologies, including multi-hinge gyri, with high fidelity to observed human brain development.Despite these innovations, challenges persist in applying computational and imaging methods to dynamic populations like infants. Motion artifacts from uncooperative subjects during MRI acquisition frequently degrade image quality, leading to inaccuracies in sulcal delineation and surface reconstruction, particularly in scans under 5 years of age where head movement is prevalent. Additionally, while 2D and surface-based approaches dominate, there is a growing need for comprehensive 3D volumetric analysis to integrate gyrification with deeper subcortical structures, as current methods often overlook volumetric distortions in folding depth and white matter interfaces.