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Total 442 results found since Jan 2013.

GSE146595 Altered regional progenitor dynamics in the neocortex  of a BBSOA disease mouse model
In this study, we report six novel cases of patients affected by BBSOAS (Boonstra-Bosch-Schaff Optic Atrophy  Syndrome), a newly emerging rare neurodevelopmental disorder, caused by loss-of-function mutations of the transcriptional regulator NR2F1. Young patients with NR2F1 haploinsufficiency display mild to moderate intellectual disability and show reproducible polymicrogyria-like brain malformations in the parietal and occipital cortex. Using a recently established BBSOA mouse model, we found that Nr2f1 regionally controls long-term self-renewal of neural progenitor cells via modulation of cell cycle genes and k...
Source: GEO: Gene Expression Omnibus - May 6, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research

Maternal Germline Mosaicism of a de Novo TUBB2B Mutation Leads to Complex Cortical Dysplasia in Two Siblings.
Conclusion: Maternal germline mosaicism was considered because the sequencing result of the father's sperm was normal, two siblings had the same disease, and both patients and mother had the same SNP. PMID: 32281916 [PubMed - as supplied by publisher]
Source: Fetal and Pediatric Pathology - April 15, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction.
Abstract Intrauterine infections with the pathogens, including toxoplasmosis, other (syphilis, varicella, mumps, parvovirus, and HIV), rubella, cytomegalovirus, and herpes simplex (TORCH) in susceptible individuals during pregnancy, result in microcephaly, white matter disease, cerebral atrophy, and calcifications in the fetus. Pseudo-TORCH syndrome is an umbrella term, consisting of several syndromes, resultant from different genetic alterations and pathogenetic mechanisms. Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is one of these conditions, resultant from biallelic mutations ...
Source: European Journal of Medical Genetics - March 29, 2020 Category: Genetics & Stem Cells Authors: Ekinci F, Yildizdas RD, Horoz OO, Herguner O, Bisgin A Tags: Eur J Med Genet Source Type: research

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
CONCLUSIONS: TUBB3 related cortical malformations can be mild, consistent with dysgyria rather than typical pachygyria or polymicrogyria. The autopsy findings in fetal TUBB3 related dysgyria are abnormal orientation of sulci and gyri, but normal neuron morphology and layering. We suggest that TUBB3 - associated brain malformations can be suspected in-utero which in turn can aid in prognostic counselling and interpretation of genetic testing. PMID: 32169460 [PubMed - as supplied by publisher]
Source: European Journal of Paediatric Neurology - March 3, 2020 Category: Neurology Authors: Blumkin L, Leibovitz Z, Krajden-Haratz K, Arad A, Yosovich K, Gindes L, Zerem A, Ben-Sira L, Lev D, Nissenkorn A, Kidron D, Dobyns WB, Malinger G, Bahi-Buisson N, Leventer RJ, Lerman-Sagie T Tags: Eur J Paediatr Neurol Source Type: research

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly
NEDD4L encodes an ubiquitin ligase which is expressed in the cortex and ventricular zone of the fetal brain. Missense variants in NEDD4L have been reported in nine patients with periventricular nodular heterotopia (PNH), polymicrogyria, cleft palate, and syndactyly. All reported variants are located in the HECT domain, causing deregulation of signaling pathways, including the AKT/mTOR pathway. Here we describe a first familial case with four affected members with a high degree of intra-familial phenotypic variability. Phenotypic features in the proband consisted of severe neurodevelopmental delay, refractory seizures, bila...
Source: Frontiers in Genetics - February 4, 2020 Category: Genetics & Stem Cells Source Type: research

Role of prenatal magnetic resonance imaging in fetuses with isolated mild or moderate ventriculomegaly in the era of neurosonography: a multicenter study.
CONCLUSIONS: The rate of associated fetal anomalies missed at US and detected only at fetal MRI in fetuses with isolated mild and moderate VM undergoing neurosonography is lower than that previously reported. The large majority of these anomalies are difficult to detect on ultrasound. The findings from this study support the practice of MRI assessment in every fetus with a prenatal diagnosis of VM, although parents can be reassured of the low risk of associated anomalies, when VM is isolated on US. This article is protected by copyright. All rights reserved. PMID: 31917496 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - January 8, 2020 Category: Radiology Authors: ENSO working group Tags: Ultrasound Obstet Gynecol Source Type: research

GSE133483 TMX2 is a key regulator of cellular redox state and its dysfunction causes severe brain developmental abnormalities
We describe a severe neurological disorder caused by biallelic loss of function variants in the Thioredoxin (TRX)-Related Transmembrane-2 (TMX2) gene, detected by exome sequencing in ten affected individuals from seven unrelated families presenting with congenital microcephaly, cortical polymicrogyria and other migration disorders. TMX2 encodes one of the five TMX proteins of the Protein Disulfide Isomerase family and is the first to be linked to human brain disease. Our mechanistic studies on protein function show that TMX2 localizes to the ER Mitochondria-Associated-Membranes (MAMs), is involved in posttranslational modi...
Source: GEO: Gene Expression Omnibus - December 31, 2019 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research

Radiological Findings on Structural MRI in Fetal Alcohol Spectrum Disorders and Healthy Controls.
CONCLUSIONS: Although advanced quantitative MRI research has uncovered a range of differences in brain structure associated with FASD, this qualitative radiological study suggests that routine clinical MRI does not reveal a consistent pattern of brain abnormalities that can be used diagnostically in this population. PMID: 31840819 [PubMed - as supplied by publisher]
Source: Alcoholism, Clinical and Experimental Research - December 15, 2019 Category: Addiction Authors: Treit S, Jeffery D, Beaulieu C, Emery D Tags: Alcohol Clin Exp Res Source Type: research

De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria.
CONCLUSION: This is the first observation of a heterozygous mutation in the MBD5 gene associated with a neuronal migration disorder. PMID: 31820818 [PubMed - in process]
Source: Revista de Neurologia - December 12, 2019 Category: Neurology Authors: Castro-Gago M, Gómez-Lado C, Barros-Angueira F, Trujillo-Ariza MV, Fuentes-Pita P, López-Vázquez AM, Eirís-Puñal J Tags: Rev Neurol Source Type: research

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities
We describe a severe neurological disorder caused by bi-allelic loss-of-function variants in thioredoxin (TRX)-related transmembrane-2 (TMX2); these variants were detected by exome sequencing in 14 affected individuals from ten unrelated families presenting with congenital microcephaly, cortical polymicrogyria, and other migration disorders.
Source: The American Journal of Human Genetics - November 13, 2019 Category: Genetics & Stem Cells Authors: Laura V. Vandervore, Rachel Schot, Chiara Milanese, Daphne J. Smits, Esmee Kasteleijn, Andrew E. Fry, Daniela T. Pilz, Stefanie Brock, Esra B örklü-Yücel, Marco Post, Nadia Bahi-Buisson, María José Sánchez-Soler, Marjon van Slegtenhorst, Boris Keren Tags: Article Source Type: research

Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature
We present two additional patients with a novel de novo SCN3A pathogenic variant, and a review of all published cases of de novo variants. In one of our patients brain magnetic resonance imaging (MRI) disclosed a severe polymicrogyria and in the other it was normal. The clinical phenotype was characterized by a severe developmental delay and refractory epilepsy in the patient with polymicrogyria and intellectual disability with autistic features and pharmacoresponsive epilepsy in the subject with normal MRI.
Source: Brain and Development - October 30, 2019 Category: Neurology Authors: Luciana Midori Inuzuka, L úcia Inês Macedo-Souza, Bruno Della-Ripa, Katiane S.S. Cabral, Fabiola Monteiro, João Paulo Kitajima, Luis Filipe de Souza Godoy, Daniel de Souza Delgado, Fernando Kok, Eliana Garzon Tags: Case Report Source Type: research

Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion
We report a new patient who presented with dysmorphic features and congenital heart disease. In addition, her brain magnetic resonance imaging revealed leukoencephalopathy, cavum septum pellucidum, perisylvian polymicrogyria, and focal occipital pachygyria. Her regular karyotype showed 46,XX add 6 (p25) due to malsegregation of a maternal balanced translocation 46,XX,t(6;7)(p25;q33) while the array-comparative genomic hybridization identified a 3.307 Mb heterozygous deletion at 6p25.3-p25.2 and 23.95 Mb duplication at 7q33-q36.3. A previous patient with the same developmental brain malformations and leukoencephalopathy wit...
Source: Neuropediatrics - October 20, 2019 Category: Neurology Authors: Eid, Maha Eid, Ola Hegazy, Ibrahim Girgis, Marian Mohamed, Amal Abdel-Salam, Ghada M.H. Tags: Short Communication Source Type: research

Multiple Stereoelectroencephalography-Guided Radiofrequency Thermocoagulations for Polymicrogyria With Startle Seizures: A Case Report
We report a rare case of polymicrogyria (PMG) combined with drug-resistant startle seizures. Presurgical monitoring was performed using SEEG owing to the large lesion and complexity of PMG. According to the intracranial electrode results, the seizure onset was extensive, with the onset starting earlier in the cingulate sulcus and insular pole than in other sites of the other electrodes. Multi-point and multi-step SEEG-guided RF-TC was used for diffuse lesion and functional protection. RF-TC was first applied to the cingulate sulcus and insular pole, and our patient was rendered free from startle seizures after 2 weeks. Two...
Source: Frontiers in Neurology - October 17, 2019 Category: Neurology Source Type: research

Stereo-eeg ictal/interictal patterns and underlying pathologies
Conclusion: The study demonstrates that specific histopathologies correlate with particular neurophysiological patterns, reflecting lesion-specific seizure patterns in focal epilepsies.
Source: Seizure - October 6, 2019 Category: Neurology Source Type: research

Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature.
We present the case of a male infant with bilateral perisylvian polymicrogyria associated with a de novo duplication of chromosome region 17p13.3p13.2. To our knowledge, this is the first report of polymicrogyria associated with the 17p13.3 contiguous gene duplication syndrome. Testing for known monogenic causes of polymicrogyria was negative and there was no clinical evidence of an acquired prenatal cause. Given the critical, dose-sensitive role that the 17p13.3 region plays in brain development we suggest that the chromosome duplication is the most likely explanation for the polymicrogyria. Clinical and functional studie...
Source: European Journal of Medical Genetics - September 30, 2019 Category: Genetics & Stem Cells Authors: Stutterd CA, Francis D, McGillivray G, Lockhart PJ, Leventer RJ Tags: Eur J Med Genet Source Type: research