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Purpose Previous studies have shown that arterial spin-labeling (ASL) has high sensitivity and specificity for detecting dural arteriovenous fistulas (DAVFs). However, in case of jugular venous reflux (JVR), the labeled protons in the jugular vein may lead to a venous hypersignal in the jugular vein, sigmoid, and transverse sinus on ASL images and mimic DAVF. Methods To ascertain this hypothesis, two blinded senior neuroradiologists independently and retrospectively reviewed randomized ASL images and graded the likelihood of DAVF on a 5-point Likert scale in 2 groups of patients: (i) 13 patients with angiographically proven type I DAVF; and (ii) 11 patients with typical JVR diagnosed on the basis of clinical and MR imaging data, first using ASL alone, and second using ASL together with all of the sequences including 4D CE MRA. Result A dural venous ASL signal was seen in 11 patients with type I DAVF and in all the 11 patients with JVR, with no distinctive pattern between the two. The mean Likert score was “very likely” in DAVF and JVR patients when using ASL alone ( k  = 0.71), and “very unlikely” for JVR versus “very likely” for DAVF when using all the sequences available ( k  = 0.92). Conclusion Our study shows that JVR can mimic DAVF on ASL images with potential implications for patient care. The detection of DAVFs should be based on additional MR sequences such as TOF-MRA and 4D CE MRA to exclude JVR and to avoid unnecessary DSAs.

Congenital Zika virus infection has stimulated great international concern. A prospective case series of 87 infants with laboratory-confirmed congenital Zika syndrome (CZS) at the epicenter of the Brazilian Zika epidemic in Pernambuco state is presented. Mothers were interviewed for symptoms of possible Zika virus (ZIKV) infection during pregnancy, and fetal ultrasounds were obtained. Infant cerebrospinal fluid (CSF) samples were tested for ZIKV-specific antibodies, and sera were screened for other congenital infections. Neuroimaging and ophthalmologic evaluations were also performed. Sixty-six mothers (76%) reported symptoms of ZIKV infection during gestation. Fetal ultrasounds were available from 90% of the mothers, and all demonstrated brain structural abnormalities. All of the CSF samples tested positive for ZIKV immunoglobulin M. The majority of infants (89%) were term; the mean birth weight was 2577 ± 260 g, and the mean head circumference was 28.1 ± 1.8 cm. Severe microcephaly, defined as head circumference 3 SD below the mean for sex and gestational age, was found in 72 (82%) infants. All infants had an abnormal neurological exam, and 18 (20.7%) had arthrogryposis. The main abnormalities detected in computed tomography scans were calcifications (99%), followed by ventricular enlargement (94%), cortical hypogyration (81%), and less commonly, cerebellar hypoplasia (52%). Unilateral diaphragm paralysis was identified in 3 infants. Maternal young age, term infant, small for gestational age, and the presence of ophthalmologic abnormalities were significantly associated with a smaller head circumference Z score. Our findings, based on laboratory-confirmed ZIKV infection, add valuable evidence for the understanding of CZS.

BackgroundVariants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in TUBB2A have been reported in 10 patients with a broad spectrum of brain imaging features, ranging from a normal cortex to polymicrogyria, while one patient has been reported with progressive atrophy of the cerebellar vermis.MethodsIn order to further refine the phenotypical spectrum associated with TUBB2A, clinical and imaging features of 12 patients with pathogenic TUBB2A variants, recruited via the international network of the authors, were reviewed.ResultsWe report 12 patients with eight novel and one recurrent variants spread throughout the TUBB2A gene but encoding for amino acids clustering at the protein surface. Eleven patients (91.7%) developed seizures in early life. All patients suffered from intellectual disability, and 11 patients had severe motor developmental delay, with 4 patients (36.4 %) being non-ambulatory. The cerebral cortex was normal in five individuals and showed dysgyria of variable severity in seven patients. Associated brain malformations were less frequent in TUBB2A patients compared with other tubulinopathies. None of the patients had progressive cerebellar atrophy.ConclusionThe imaging phenotype associated with pathogenic variants in TUBB2A is highly variable, ranging from a normal cortex to extensive dysgyria with associated brain malformations. For recurrent variants, no clear genotype–phenotype correlations could be established, suggesting the role of additional modifiers.

Neurovascular dysfunction, including blood–brain barrier (BBB) breakdown and cerebral blood flow (CBF) dysregulation and reduction, are increasingly recognized to contribute to Alzheimer’s disease (AD). The spatial and temporal relationships between different pathophysiological events during preclinical stages of AD, including cerebrovascular dysfunction and pathology, amyloid and tau pathology, and brain structural and functional changes remain, however, still unclear. Recent advances in neuroimaging techniques, i.e., magnetic resonance imaging (MRI) and positron emission tomography (PET), offer new possibilities to understand how the human brain works in health and disease. This includes methods to detect subtle regional changes in the cerebrovascular system integrity. Here, we focus on the neurovascular imaging techniques to evaluate regional BBB permeability (dynamic contrast-enhanced MRI), regional CBF changes (arterial spin labeling- and functional-MRI), vascular pathology (structural MRI), and cerebral metabolism (PET) in the living human brain, and examine how they can inform about neurovascular dysfunction and vascular pathophysiology in dementia and AD. Altogether, these neuroimaging approaches will continue to elucidate the spatio-temporal progression of vascular and neurodegenerative processes in dementia and AD and how they relate to each other.

Objective To determine the neuroimaging pattern of cerebellar dysplasia (CD) and other posterior fossa morphological anomalies associated with mutations in tubulin genes and to perform clinical and genetic correlations. Methods Twenty-eight patients harbouring 23 heterozygous pathogenic variants (ten novel) in tubulin genes TUBA1A (n = 10), TUBB2B (n = 8) or TUBB3 (n = 5) were studied by a brain MRI scan performed either on a 1.5 T (n = 10) or 3 T (n = 18) MR scanner with focus on the posterior fossa. Results Cerebellar anomalies were detected in 24/28 patients (86%). CD was recognised in 19/28 (68%) including cortical cerebellar dysplasia (CCD) in 18/28, either involving only the cerebellar hemispheres (12/28) or associated with vermis dysplasia (6/28). CCD was located only in the right hemisphere in 13/18 (72%), including four TUBB2B- , four TUBB3- and five TUBA1A -mutated patients, while in the other five TUBA1A cases it was located only in the left hemisphere or in both hemispheres. The postero-superior region of the cerebellar hemispheres was most frequently affected. Conclusions The cerebellar involvement in tubulinopathies shows specific features that may be labelled as ‘tubulin-related CD’. This pattern is unique and differs from other genetic causes of cerebellar dysplasia. Key Points • Cortical cerebellar dysplasia without cysts is suggestive of tubulin-related disorder. • Cerebellar dysplasia in tubulinopathies shows specific features labelled as ‘tubulin-related CD’. • Focal and unilateral involvement of cerebellar hemispheres has important implications for counselling.

Background Endovascular embolization is an effective treatment option for cerebral arteriovenous malformations (AVMs) and dural arteriovenous fistulas (DAVFs). A variety of liquid embolic agents have been and are currently used for embolization of AVMs and DAVFs. Knowledge of the special properties of the agent which is used is crucial for an effective and safe embolization procedure. Material and Methods This article describes the properties and indications of the liquid embolic agents which are currently available: cyanoacrylates (also called glues), and the copolymers Onyx, Squid and PHIL, as well as their respective subtypes. Results Cyanoacrylates were the predominantly used agents in the 1980s and 1990s. They are currently still used in specific situations, for example for the occlusion of macro-shunts, for the pressure cooker technique or in cases in which microcatheters are used that are not compatible with dimethyl-sulfoxide. The first broadly used copolymer-based embolic agent Onyx benefits from a large amount of available experience and data, which demonstrated its safety and efficacy in the treatment of cerebral vascular malformations, while its drawbacks include temporary loss of visibility during longer injections and artifacts in cross-sectional imaging. The more recently introduced agents Squid and PHIL aim to overcome these shortcomings and to improve the success rate of endovascular embolization. Novelties of these newer agents with potential advantages include extra-low viscosity versions, more stable visibility, and a lower degree of imaging artifacts. Conclusion All the available liquid embolic agents feature specific potential advantages and disadvantages over each other. The choice of the most appropriate embolic agent must be made based on the specific material characteristics of the agent, related to the specific anatomical characteristics of the target pathology.

Background Prenatal diagnosis of fetal central nervous system (CNS) anomalies remains challenging and is influenced by various factors, including imaging equipment quality, and access to advanced modalities such as fetal magnetic resonance imaging (MRI). In resource-limited settings, these constraints highlight the need for practical and accessible screening methods. This study aims to evaluate the predictive value of the fetal corpus callosum length-to-head circumference (CCL/HC) and corpus callosum length-to-occipitofrontal (CCL/OFD) diameter ratios in the detection of fetal central CNS abnormalities. Materials and methods This prospective cohort study included 243 singleton pregnancies undergoing routine mid-trimester ultrasound between November 2024 and May 2025. 15 fetuses with CNS anomalies confirmed by fetal MRI constituted the patient group. Diagnosed anomalies included schizencephaly, lissencephaly, vermian agenesis, cerebellar hypoplasia, hydrocephalus, pachygyria, septo-optic dysplasia, and corpus callosum (CC) malformations, particularly hypoplasia. After excluding 22 cases with non-CNS anomalies, maternal diseases, or intrauterine growth restriction, 206 fetuses comprised the control group. The CCL/HC and CCL/OFD ratios were then calculated for analysis and compared between groups. Results A total of 221 fetuses were analyzed; CNS anomalies were confirmed in 15 of them, while 206 served as the control group. In the anomaly group, the mean corpus callosum length (CCL) was significantly shorter compared to healthy fetuses (19.27 ± 3.03 mm vs. 23.33 ± 3.50 mm; p  < 0.001). Both the CCL/HC and CCL/OFD ratios were significantly lower in fetuses with CNS anomalies ( p  < 0.001 for both). ROC analysis showed AUC values of 0.833 for CCL/HC and 0.935 for CCL/OFD; the cutoff values were 0.0953 and 0.2658, respectively, with both ratios demonstrating high specificity (99.5%) for anomaly detection. Additionally, both ratios exhibited a moderate positive correlation with gestational age in the control group and remained within the ± 2 standard deviation limits in 97% (CCL/HC) and 95.7% (CCL/OFD) of healthy fetuses. Conclusion Fetal CCL/OFD and CCL/HC ratios may offer a practical method for both assessing normal CC development and identifying potential CNS anomalies.

Background Single nucleotide polymorphism array (SNP-array) has been introduced for prenatal diagnosis. This study aims to evaluate the clinical utility of SNP-array in the prenatal central nervous system (CNS) malformations. Methods A retrospective study was conducted on 437 prenatal cases involving CNS malformations and other structural abnormalities detected by ultrasound. Samples were categorized into three groups: Single CNS malformation, Multiple CNS malformations, and CNS malformations with multiple system malformations. SNP-array and karyotype analysis were simultaneously performed on the Fetal samples. Comparative analysis of data was conducted using SPSS ( χ2 ). Results SNP-array analysis of 437 samples revealed an overall abnormality detection rate of 19.0%, which was significantly higher than the 11.7% positive rate detected by karyotype analysis in 427 samples (χ2 = 8.797, P  = 0.003). The positivity rates detected by SNP-array were 11.4%, 43.3%, and 63.0% in the above three groups, respectively, and these differences were statistically significant (χ2 = 83.247, P  = 8.379×10 − 19 ). The detection rate of clinically significant copy number variants (CNVs) (pathogenic/likely pathogenic, P/LP) was also statistically significant among the three groups (χ2 = 42.000, P  = 9.127×10 − 11 ). In pathogenic CNVs, dose-sensitive regions or genes that occur more frequently include the 4p16.3 terminal region, the 17p13.3 region, the 22q11.2 recurrent region, and DLL1, TGIF1, EBF3. We also did an analysis for pregnancy data of advanced maternal age (AMA) and found that the ratio of chromosomal abnormalities in samples was 18.8% tested by SNP-array. The postnatal follow-up data were analyzed. Compared to the group with normal chromosomal microarray analysis (CMA) result and isolated CNS malformation, the proportions of termination of pregnancy (TOP)/perinatal mortality/spontaneous abortion (27.2% vs. 69.6%, P  < 0.0001), liveborn infants requiring medical attention (6.3% vs. 21.7%, P  < 0.01), infants being alive and well at birth (66.5% vs. 8.7%, P  < 0.0001) were all statistically significant in the group with normal CMA result and non-isolated CNS malformation. The proportions of TOP/perinatal mortality/spontaneous abortion (27.2% vs. 76.7%, P  < 0.0001), infants being alive and well at birth (66.5% vs. 23.3%, P  < 0.0001) were also statistically significant in the group with abnormal CMA result and isolated CNS malformation compared to the same group mentioned above. Conclusions This study evaluated the application of SNP-array in the prenatal CNS malformations in terms of detection of positive rates, advantages in prenatal diagnosis, AMA, genotype-phenotype correlations, pregnancy outcomes and follow-up data, which could assist in the clinical diagnosis and assessment of fetal CNS malformations.

Purpose To investigate genetic etiology and pregnancy outcomes of fetal central nervous system (CNS) anomalies. Methods 217 fetuses with CNS anomalies were included in our cohort from January 2016 to December 2022. 124 cases received karyotyping and 73 cases simultaneously underwent copy number variant sequencing (CNV-seq). Dynamic ultrasound screening and pregnancy outcomes were followed up, including neonates’ neurodevelopmental outcomes. Results (1) 20 types of CNS anomalies were revealed by ultrasound and the most common was ventriculomegaly. (2) 14 (11.3%) of 124 cases were found chromosomal abnormalities by karyotyping, and copy number variations (CNVs) were revealed in 13 (17.8%) of 73 cases by CNV-seq. Fetuses with non-isolated CNS anomalies had a higher detection rate (DR) of abnormal karyotypes and CNVs than those with isolated CNS anomalies (25.0% vs. 4.8%; 35.0% vs. 11.3%) ( P  < 0.05). And the DR of abnormal karyotypes was significantly higher in multiple CNS anomalies than in single CNS anomaly (16.7% vs. 2.8%, P  < 0.05), while there were no significant differences in the DR of CNVs. (3) Through dynamic ultrasound, 12 cases were further found progression or additional malformations. (4) Pregnancy outcomes of 209 cases were obtained, including 136 (65.1%) live births, 3 (1.4%) intrauterine fetal deaths, and 70 (33.5%) terminated. Two neonatal deaths at 6 months and one infant with motor and intellectual disabilities were finally found after long-term follow-up. Conclusion Genetic analysis combined with dynamic ultrasound screening and multidisciplinary consultation plays an important role in evaluating the prognosis of fetal CNS anomalies, especially for those with multiple CNS or extracranial abnormalities.

Aicardi-Goutières Syndrome (AGS) is a monogenic leukodystrophy with pediatric onset, clinically characterized by a variable degree of neurologic impairment. It belongs to a group of condition called type I interferonopathies that are characterized by abnormal overproduction of interferon alpha, an inflammatory cytokine which action is mediated by the activation of two of the four human Janus Kinases. Thanks to an ever-increasing knowledge of the molecular basis and pathogenetic mechanisms of the disease, Janus Kinase inhibitors (JAKIs) have been proposed as a treatment option for selected interferonopathies. Here we reported the 24 months follow-up of the fifth AGS patient treated with ruxolitinib described so far in literature. The treatment was globally well tolerated; clinical examinations and radiological images demonstrated a progressively improving course. It is however to note that patients presenting with mild and spontaneously improving course have been reported. Large natural history studies on AGS spectrum are strongly required in order to get a better understanding of the results emerging from ongoing therapeutic trials on such rare disease.