Purpose: To determine a practical virtual monoenergetic imaging (VMI) energy range that improves in‑stent lumen assessment and reduces metal‑related artifacts on dual‑energy CT venography (DECT‑CTV) after intracranial venous sinus stenting.
Methods: Retrospective single‑center study including 10 patients (13 stents) who underwent DECT‑CTV after venous sinus stenting for idiopathic intracranial hypertension or pulsatile tinnitus. VMI series were reconstructed from 40 to 140 keV in 10‑keV increments. Two neuroradiologists independently scored in‑stent lumen visibility and beam‑hardening/streak artifacts (5‑point Likert). Quantitative analysis used standardized ROI measurements (3 in‑stent and 2 adjacent out‑of‑stent ROIs per stent per keV) and derived metrics including in‑stent attenuation, background noise, CNR, SNR, and dCT_in-out (in‑stent minus out‑of‑stent attenuation).
Results: Qualitatively, both readers preferred intermediate‑high energies (90-100 keV) for overall interpretability. Quantitatively, in‑stent attenuation decreased from 1180.7 ± 245.5 HU (40 keV) to 112.5 ± 15.7 HU (140 keV). Noise and dCT_in-out decreased with increasing energy, whereas CNR decreased with increasing energy. SNR showed no statistically significant differences across energies.
Conclusion: For intracranial venous sinus stents on DECT‑CTV, VMI around 90-100 keV provided the best perceived balance between lumen accessibility and artifact suppression. Findings require validation in larger cohorts with device‑specific subgroup analyses and complementary artifact indices.
目的:确定一个实用的虚拟单能成像(VMI)能量范围,以改善颅内静脉窦支架植管术后双能CT静脉造影(DECT - CTV)的腔内评估并减少金属相关伪影。方法:回顾性单中心研究,包括10例(13个支架)因特发性颅内高压或搏动性耳鸣接受静脉窦支架置入术后行DECT - CTV的患者。VMI序列以10 keV的增量从40 keV重建到140 keV。两名神经放射学家独立对支架内腔可见度和光束硬化/条纹伪影进行评分(李克特5分)。定量分析使用标准化的ROI测量(每个支架每keV有3个支架内和2个相邻的支架外ROI)和衍生指标,包括支架内衰减、背景噪声、CNR、SNR和dCT_in-out(支架内减去支架外衰减)。结果:定性地说,两位读者更倾向于中高能量(90-100 keV)的整体可解释性。从数量上看,支架内衰减从1180.7±245.5 HU (40 keV)下降到112.5±15.7 HU (140 keV)。噪声和dCT_in-out随能量的增加而减小,而CNR随能量的增加而减小。不同能量的信噪比差异无统计学意义。结论:对于DECT - CTV上的颅内静脉窦支架,90-100 keV左右的VMI在管腔可达性和伪影抑制之间提供了最佳的感知平衡。研究结果需要在更大的队列中进行验证,包括器械特定的亚组分析和互补的人工指标。
{"title":"Optimizing virtual monoenergetic imaging for dual‑energy CT venography assessment of intracranial venous sinus stents.","authors":"Joel Kosowan, Timothy Reynold Lim, Akhil Nair, Asutosh Sahu, Vinu Mathew, Yingming Amy Chen, Vitor Mendes Pereira, Nicole Cancelliere, Shobhit Mathur","doi":"10.1007/s00234-026-03930-z","DOIUrl":"https://doi.org/10.1007/s00234-026-03930-z","url":null,"abstract":"<p><strong>Purpose: </strong>To determine a practical virtual monoenergetic imaging (VMI) energy range that improves in‑stent lumen assessment and reduces metal‑related artifacts on dual‑energy CT venography (DECT‑CTV) after intracranial venous sinus stenting.</p><p><strong>Methods: </strong>Retrospective single‑center study including 10 patients (13 stents) who underwent DECT‑CTV after venous sinus stenting for idiopathic intracranial hypertension or pulsatile tinnitus. VMI series were reconstructed from 40 to 140 keV in 10‑keV increments. Two neuroradiologists independently scored in‑stent lumen visibility and beam‑hardening/streak artifacts (5‑point Likert). Quantitative analysis used standardized ROI measurements (3 in‑stent and 2 adjacent out‑of‑stent ROIs per stent per keV) and derived metrics including in‑stent attenuation, background noise, CNR, SNR, and dCT_in-out (in‑stent minus out‑of‑stent attenuation).</p><p><strong>Results: </strong>Qualitatively, both readers preferred intermediate‑high energies (90-100 keV) for overall interpretability. Quantitatively, in‑stent attenuation decreased from 1180.7 ± 245.5 HU (40 keV) to 112.5 ± 15.7 HU (140 keV). Noise and dCT_in-out decreased with increasing energy, whereas CNR decreased with increasing energy. SNR showed no statistically significant differences across energies.</p><p><strong>Conclusion: </strong>For intracranial venous sinus stents on DECT‑CTV, VMI around 90-100 keV provided the best perceived balance between lumen accessibility and artifact suppression. Findings require validation in larger cohorts with device‑specific subgroup analyses and complementary artifact indices.</p>","PeriodicalId":19422,"journal":{"name":"Neuroradiology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146227692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-18DOI: 10.1007/s00234-026-03938-5
Estelle Akl, Daniel Cantré, Matthias Lütgens, Wiebke Hermann, Sönke Langner, Marc-André Weber, Ann-Christin Klemenz, Felix G Meinel, Ebba Beller
Purpose: The Alberta Stroke Program Early CT Score (ASPECTS) and advances in CT reconstruction play important roles in the neurodiagnostic workflow. This study examines the effect of these reconstruction techniques on automated ASPECTS.
Methods: In this retrospective study, 173 patients (median age 79 years, 39% female) with suspected middle cerebral artery infarction underwent non-contrast CT scans reconstructed with Filtered Back Projection (FBP), ASIR-V (30% and 60%), and DLIR (low, medium, and high). Automated ASPECTS were analyzed, with FBP as the reference standard.
Results: Bland-Altman analysis revealed a mean bias with ASIR and DLIR underestimating ASPECTS compared to FBP. This underestimation was less pronounced for ASIR-V 30% (-0.057 ) and DLIR-L (-0.069) than for ASIR-V 60% (-0.126), DLIR-M (-0.121), and DLIR-H (-0.086). The region with the greatest overestimation relative to FBP was M3 (n = 23), while the region with the greatest underestimation was the insular ribbon (n = 51). Regarding the ASPECTS < 6 threshold, most patients were reclassified from ASPECTS ≤ 5 to ASPECTS ≥ 6 with DLIR-M (n = 5), which also showed the strongest agreement with expert consensus (κ = 0.352).
Conclusion: Both ASIR-V and DLIR resulted in only minor underestimation of ASPECTS compared to FBP. However, most patients became eligible for endovascular therapy due to ASPECTS reclassification with DLIR-M. DLIR-M also exhibited the highest agreement with expert consensus for automated ASPECTS. Therefore, careful selection of reconstruction parameters, as well as further optimization and standardization of these techniques, is essential for broader application in stroke imaging.
{"title":"Influence of deep learning image reconstruction and adaptive statistical iterative reconstruction-V on automated Alberta stroke program early CT score- evaluation.","authors":"Estelle Akl, Daniel Cantré, Matthias Lütgens, Wiebke Hermann, Sönke Langner, Marc-André Weber, Ann-Christin Klemenz, Felix G Meinel, Ebba Beller","doi":"10.1007/s00234-026-03938-5","DOIUrl":"https://doi.org/10.1007/s00234-026-03938-5","url":null,"abstract":"<p><strong>Purpose: </strong>The Alberta Stroke Program Early CT Score (ASPECTS) and advances in CT reconstruction play important roles in the neurodiagnostic workflow. This study examines the effect of these reconstruction techniques on automated ASPECTS.</p><p><strong>Methods: </strong>In this retrospective study, 173 patients (median age 79 years, 39% female) with suspected middle cerebral artery infarction underwent non-contrast CT scans reconstructed with Filtered Back Projection (FBP), ASIR-V (30% and 60%), and DLIR (low, medium, and high). Automated ASPECTS were analyzed, with FBP as the reference standard.</p><p><strong>Results: </strong>Bland-Altman analysis revealed a mean bias with ASIR and DLIR underestimating ASPECTS compared to FBP. This underestimation was less pronounced for ASIR-V 30% (-0.057 ) and DLIR-L (-0.069) than for ASIR-V 60% (-0.126), DLIR-M (-0.121), and DLIR-H (-0.086). The region with the greatest overestimation relative to FBP was M3 (n = 23), while the region with the greatest underestimation was the insular ribbon (n = 51). Regarding the ASPECTS < 6 threshold, most patients were reclassified from ASPECTS ≤ 5 to ASPECTS ≥ 6 with DLIR-M (n = 5), which also showed the strongest agreement with expert consensus (κ = 0.352).</p><p><strong>Conclusion: </strong>Both ASIR-V and DLIR resulted in only minor underestimation of ASPECTS compared to FBP. However, most patients became eligible for endovascular therapy due to ASPECTS reclassification with DLIR-M. DLIR-M also exhibited the highest agreement with expert consensus for automated ASPECTS. Therefore, careful selection of reconstruction parameters, as well as further optimization and standardization of these techniques, is essential for broader application in stroke imaging.</p>","PeriodicalId":19422,"journal":{"name":"Neuroradiology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146219657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-18DOI: 10.1007/s00234-026-03941-w
Mustafa Ismail, Norito Kinjo, Ahmed Muthana, Alejandro Spiotta
{"title":"Endovascular treatment of dissecting distal anterior cerebral artery pseudo-aneurysms: insights from a six-patient case series.","authors":"Mustafa Ismail, Norito Kinjo, Ahmed Muthana, Alejandro Spiotta","doi":"10.1007/s00234-026-03941-w","DOIUrl":"https://doi.org/10.1007/s00234-026-03941-w","url":null,"abstract":"","PeriodicalId":19422,"journal":{"name":"Neuroradiology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146219173","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Purpose: Neuromelanin-sensitive imaging visualizes degeneration of the substantia nigra pars compacta (SNc) and locus coeruleus (LC), characteristic features of Parkinson's disease (PD). Spectral presaturation with inversion recovery (SPIR), using fat-selective radiofrequency pulses, has been reported to provide superior delineation of the SNc and LC in healthy individuals and offers shorter acquisition times than conventional magnetization transfer (MT) imaging. This study evaluated the clinical utility of SPIR imaging for assessing PD compared with MT imaging.
Methods: Neuromelanin-sensitive images were acquired from 24 patients with PD and 24 healthy controls using MT and SPIR sequences, each with an acquisition time of approximately five minutes. Signal ratios (SRs) of the SNc and LC were automatically quantified using established brain atlases. For each sequence and brain region, diagnostic performance in distinguishing PD from controls was assessed using receiver operating characteristic curve analysis. In patients with PD, associations between SRs and nigrostriatal degeneration, as measured by dopamine transporter SPECT imaging, were investigated.
Results: SPIR images yielded higher SRs in the SNc than MT images. Diagnostic accuracy for PD with SPIR imaging (87.50%) was significantly greater than that with MT imaging (77.08%). SRs of the SNc and LC on SPIR images were correlated with nigrostriatal degeneration on dopamine transporter SPECT, unlike MT images.
Conclusion: SPIR imaging demonstrated superior visualization of the SNc and LC, and outperformed MT imaging in the evaluation of PD. With shorter acquisition time and stronger correlation with nigrostriatal degeneration, SPIR represents a promising and practical tool for diagnosing and monitoring PD.
{"title":"Spectral presaturation with inversion recovery provides superior neuromelanin imaging for Parkinson's disease evaluation compared to magnetization transfer.","authors":"Tomoki Imokawa, Hiroyuki Maki, Midori Kusama, Risa Kagaya, Yoko Shigemoto, Yukio Kimura, Hiroshi Matsuda, Masami Yoneyama, Takashi Namiki, Yohei Mukai, Toshiyuki Yamamoto, Yuji Takahashi, Ukihide Tateishi, Noriko Sato","doi":"10.1007/s00234-026-03945-6","DOIUrl":"https://doi.org/10.1007/s00234-026-03945-6","url":null,"abstract":"<p><strong>Purpose: </strong>Neuromelanin-sensitive imaging visualizes degeneration of the substantia nigra pars compacta (SNc) and locus coeruleus (LC), characteristic features of Parkinson's disease (PD). Spectral presaturation with inversion recovery (SPIR), using fat-selective radiofrequency pulses, has been reported to provide superior delineation of the SNc and LC in healthy individuals and offers shorter acquisition times than conventional magnetization transfer (MT) imaging. This study evaluated the clinical utility of SPIR imaging for assessing PD compared with MT imaging.</p><p><strong>Methods: </strong>Neuromelanin-sensitive images were acquired from 24 patients with PD and 24 healthy controls using MT and SPIR sequences, each with an acquisition time of approximately five minutes. Signal ratios (SRs) of the SNc and LC were automatically quantified using established brain atlases. For each sequence and brain region, diagnostic performance in distinguishing PD from controls was assessed using receiver operating characteristic curve analysis. In patients with PD, associations between SRs and nigrostriatal degeneration, as measured by dopamine transporter SPECT imaging, were investigated.</p><p><strong>Results: </strong>SPIR images yielded higher SRs in the SNc than MT images. Diagnostic accuracy for PD with SPIR imaging (87.50%) was significantly greater than that with MT imaging (77.08%). SRs of the SNc and LC on SPIR images were correlated with nigrostriatal degeneration on dopamine transporter SPECT, unlike MT images.</p><p><strong>Conclusion: </strong>SPIR imaging demonstrated superior visualization of the SNc and LC, and outperformed MT imaging in the evaluation of PD. With shorter acquisition time and stronger correlation with nigrostriatal degeneration, SPIR represents a promising and practical tool for diagnosing and monitoring PD.</p>","PeriodicalId":19422,"journal":{"name":"Neuroradiology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146213048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-14DOI: 10.1007/s00234-026-03934-9
Deyuan Zhu, Bin Liu, Kangqing Zhang, Jihu Zhao, Si Zhao Tang, Xudong Lu, Yibin Fang
{"title":"Sirolimus Drug-Eluting Stent (DES) in vertebral artery ostial stenosis: insights from a multicenter analysis.","authors":"Deyuan Zhu, Bin Liu, Kangqing Zhang, Jihu Zhao, Si Zhao Tang, Xudong Lu, Yibin Fang","doi":"10.1007/s00234-026-03934-9","DOIUrl":"https://doi.org/10.1007/s00234-026-03934-9","url":null,"abstract":"","PeriodicalId":19422,"journal":{"name":"Neuroradiology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146195165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-12DOI: 10.1007/s00234-026-03937-6
Benjamin Soares, Piers Klein, Bindu N Setty, Zhongyuang Zhang, Pamela Semaan, Thanh N Nguyen, Mohamad Abdalkader
Background and purpose: Emissary veins (EVs) are common incidental radiological findings, and enlarged EVs have been associated with the development of pulsatile tinnitus (PT). The purpose of this study is to further investigate the prevalence and characteristics of EVs in patients with and without PT.
Materials and methods: We conducted a case-control study of consecutive patients with PT and age- and sex-matched controls who received imaging (primarily CTA, CTV, and MRI) between February 2018 and February 2022. Radiological evaluation was performed by two neuroradiologists and EVs measurements were performed at the point of maximal diameter. For statistical analyses, Mann-Whitney U test was used to compare vein diameters, and Fisher's exact test was used to compare vein frequencies.
Results: Condylar and mastoid emissary veins of any diameter were less frequently observed in patients with PT than controls (66% vs. 78%; p < 0.01). The median diameter of mastoid emissary veins (MEVs) was significantly greater in the PT cohort (1 [IQR 1-2] mm vs. 1 [1-1] mm; p < 0.01) but there was no difference in median condylar emissary vein (CEV) diameter (3 [2-4] mm vs. 2 [2-3.5] mm; p = 0.64). Dilated CEVs (≥ 5 mm, 11% vs. 4%; p = 0.02) and MEVs (≥ 2 mm, 30% vs. 13%; p < 0.01) were more common in patients with PT. In both the PT and control cohorts, there was no significant difference in the prevalence of dilated EVs in patients with and without significant internal jugular stenosis (IJVS), transverse sinus stenosis (TSS). Additionally, there was no significant difference in the prevalence of dilated EVs in patients with and without idiopathic intracranial hypertension (IIH) in the PT cohort.
Conclusion: Dilated CEVs and MEVs were more common in patients with PT compared to controls, while the overall prevalence of CEVs/MEVs was lower in the control cohort.There was no association between the prevalence of dilated EVs and the presence of significant IJVS or TSS in patients with PT or controls.
{"title":"Dilated emissary veins in patients with pulsatile tinnitus: Culprit or bystander?","authors":"Benjamin Soares, Piers Klein, Bindu N Setty, Zhongyuang Zhang, Pamela Semaan, Thanh N Nguyen, Mohamad Abdalkader","doi":"10.1007/s00234-026-03937-6","DOIUrl":"https://doi.org/10.1007/s00234-026-03937-6","url":null,"abstract":"<p><strong>Background and purpose: </strong>Emissary veins (EVs) are common incidental radiological findings, and enlarged EVs have been associated with the development of pulsatile tinnitus (PT). The purpose of this study is to further investigate the prevalence and characteristics of EVs in patients with and without PT.</p><p><strong>Materials and methods: </strong>We conducted a case-control study of consecutive patients with PT and age- and sex-matched controls who received imaging (primarily CTA, CTV, and MRI) between February 2018 and February 2022. Radiological evaluation was performed by two neuroradiologists and EVs measurements were performed at the point of maximal diameter. For statistical analyses, Mann-Whitney U test was used to compare vein diameters, and Fisher's exact test was used to compare vein frequencies.</p><p><strong>Results: </strong>Condylar and mastoid emissary veins of any diameter were less frequently observed in patients with PT than controls (66% vs. 78%; p < 0.01). The median diameter of mastoid emissary veins (MEVs) was significantly greater in the PT cohort (1 [IQR 1-2] mm vs. 1 [1-1] mm; p < 0.01) but there was no difference in median condylar emissary vein (CEV) diameter (3 [2-4] mm vs. 2 [2-3.5] mm; p = 0.64). Dilated CEVs (≥ 5 mm, 11% vs. 4%; p = 0.02) and MEVs (≥ 2 mm, 30% vs. 13%; p < 0.01) were more common in patients with PT. In both the PT and control cohorts, there was no significant difference in the prevalence of dilated EVs in patients with and without significant internal jugular stenosis (IJVS), transverse sinus stenosis (TSS). Additionally, there was no significant difference in the prevalence of dilated EVs in patients with and without idiopathic intracranial hypertension (IIH) in the PT cohort.</p><p><strong>Conclusion: </strong>Dilated CEVs and MEVs were more common in patients with PT compared to controls, while the overall prevalence of CEVs/MEVs was lower in the control cohort.There was no association between the prevalence of dilated EVs and the presence of significant IJVS or TSS in patients with PT or controls.</p>","PeriodicalId":19422,"journal":{"name":"Neuroradiology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146166173","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Purpose: Congenital brain malformations are structural anomalies present at birth stemming from underlying genetic mutations or prenatal disruptions. The increased use of advanced genomic sequencing has led to major breakthroughs in pediatric neurogenetics; however, progress in unraveling the genetic basis of many central nervous system (CNS) malformations has lagged. This gap is partly due to the complexity of brain development and challenges like establishing the genetic culprit in somatic mosaicism. This review aims to integrate embryology, genetics, and neuroimaging to provide a practical radiogenomic framework for congenital brain malformations.
Methods: A narrative review of the literature was performed focusing on fundamental embryologic processes of CNS development, genetic concepts relevant to malformations, and key molecular pathways and protein structures implicated in neurodevelopment. Representative malformations of cortical development, midline anomalies, and hindbrain malformations are discussed with emphasis on radiologic-genetic correlations.
Results: Critical developmental pathways and proteins-including mTOR and Ras/MAPK signaling cascades and the tubulin cytoskeleton-are central to the pathogenesis of congenital brain malformations. Genetic principles, such as types of genetic alterations (e.g. somatic vs germline), mosaicism, penetrance, and expressivity explain the imaging and clinical phenotype variability and the diagnostic challenges encountered. Distinct radiogenomic patterns are identified across malformations of cortical development, corpus callosum anomalies, holoprosencephaly and posterior fossa malformations highlighting the diagnostic value of integrating neuroimaging with embryologic and molecular insights.
Conclusion: Radiogenomic correlation of congenital brain malformations is increasingly important in the era of precision medicine. By correlating neuroimaging phenotypes with the relevant embryologic and molecular mechanism, neuroradiologists can improve diagnostic accuracy, guide genetic testing strategies, and contribute to multidisciplinary care and counseling.
{"title":"Radiogenomics of congenital brain malformations: Linking embryology, genetics, and imaging.","authors":"Jehan AlRayahi, Khalid AlDasuqi, Marwa AlSubhi, Walid Mubarak, Osamah Al Walid","doi":"10.1007/s00234-026-03916-x","DOIUrl":"https://doi.org/10.1007/s00234-026-03916-x","url":null,"abstract":"<p><strong>Purpose: </strong>Congenital brain malformations are structural anomalies present at birth stemming from underlying genetic mutations or prenatal disruptions. The increased use of advanced genomic sequencing has led to major breakthroughs in pediatric neurogenetics; however, progress in unraveling the genetic basis of many central nervous system (CNS) malformations has lagged. This gap is partly due to the complexity of brain development and challenges like establishing the genetic culprit in somatic mosaicism. This review aims to integrate embryology, genetics, and neuroimaging to provide a practical radiogenomic framework for congenital brain malformations.</p><p><strong>Methods: </strong>A narrative review of the literature was performed focusing on fundamental embryologic processes of CNS development, genetic concepts relevant to malformations, and key molecular pathways and protein structures implicated in neurodevelopment. Representative malformations of cortical development, midline anomalies, and hindbrain malformations are discussed with emphasis on radiologic-genetic correlations.</p><p><strong>Results: </strong>Critical developmental pathways and proteins-including mTOR and Ras/MAPK signaling cascades and the tubulin cytoskeleton-are central to the pathogenesis of congenital brain malformations. Genetic principles, such as types of genetic alterations (e.g. somatic vs germline), mosaicism, penetrance, and expressivity explain the imaging and clinical phenotype variability and the diagnostic challenges encountered. Distinct radiogenomic patterns are identified across malformations of cortical development, corpus callosum anomalies, holoprosencephaly and posterior fossa malformations highlighting the diagnostic value of integrating neuroimaging with embryologic and molecular insights.</p><p><strong>Conclusion: </strong>Radiogenomic correlation of congenital brain malformations is increasingly important in the era of precision medicine. By correlating neuroimaging phenotypes with the relevant embryologic and molecular mechanism, neuroradiologists can improve diagnostic accuracy, guide genetic testing strategies, and contribute to multidisciplinary care and counseling.</p>","PeriodicalId":19422,"journal":{"name":"Neuroradiology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146157848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-10DOI: 10.1007/s00234-026-03926-9
Ruize Zhu, Zhenyu Li, Zujun Hou, Tong-San Koh, Xiuqi Guan, Yan Ren, Zhifeng Shi, Zhiyong Qin, Zhen Fan
{"title":"The diagnostic and prognosis value of dynamic contrast-enhanced MRI distributed parameter model and <sup>18</sup>F- fluoroethyltyrosine PET on differentiating recurrent glioma from treatment-induced change.","authors":"Ruize Zhu, Zhenyu Li, Zujun Hou, Tong-San Koh, Xiuqi Guan, Yan Ren, Zhifeng Shi, Zhiyong Qin, Zhen Fan","doi":"10.1007/s00234-026-03926-9","DOIUrl":"https://doi.org/10.1007/s00234-026-03926-9","url":null,"abstract":"","PeriodicalId":19422,"journal":{"name":"Neuroradiology","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146150305","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}