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Total 442 results found since Jan 2013.

The spectrum of structural and functional network alterations in malformations of cortical development
AbstractNeuroimaging studies of malformations of cortical development have mainly focused on the characterization of the primary lesional substrate, while whole-brain investigations remain scarce. Our purpose was to assess large-scale brain organization in prevalent cortical malformations. Based on experimental evidence suggesting that distributed effects of focal insults are modulated by stages of brain development, we postulated differential patterns of network anomalies across subtypes of malformations. We studied a cohort of patients with focal cortical dysplasia type II (n =63), subcortical nodular heterotopia (n =44)...
Source: Brain - June 30, 2017 Category: Neurology Source Type: research

A Practical Approach to Supratentorial Brain Malformations: What Radiologists Should Know.
Abstract For general radiologists, congenital brain malformations pose substantial challenges in terms of recognition, description, and classification. This review describes a practical approach to imaging and classifying the most common supratentorial brain malformations. It begins with a discussion of embryology and optimal imaging technique and then summarizes distinguishing imaging features for several major categories of cerebral malformation, including holoprosencephaly, gray matter heterotopia, lissencephaly/pachygyria, focal cortical dysplasia, polymicrogyria, and cobblestone malformation. The importance o...
Source: Radiologic Clinics of North America - June 13, 2017 Category: Radiology Authors: Yang E, Chu WCW, Lee EY Tags: Radiol Clin North Am Source Type: research

Disease-associated extracellular loop mutations in the adhesion G protein-coupled receptor G1 (ADGRG1; GPR56) differentially regulate downstream signaling Molecular Bases of Disease
Mutations to the adhesion G protein-coupled receptor ADGRG1 (G1; also known as GPR56) underlie the neurological disorder bilateral frontoparietal polymicrogyria. Disease-associated mutations in G1 studied to date are believed to induce complete loss of receptor function through disruption of either receptor trafficking or signaling activity. Given that N-terminal truncation of G1 and other adhesion G protein-coupled receptors has been shown to significantly increase the receptors' constitutive signaling, we examined two different bilateral frontoparietal polymicrogyria-inducing extracellular loop mutations (R565W and L640R...
Source: Journal of Biological Chemistry - June 9, 2017 Category: Chemistry Authors: Ayush Kishore, Randy A. Hall Tags: Signal Transduction Source Type: research

A Practical Approach to Supratentorial Brain Malformations
For general radiologists, congenital brain malformations pose substantial challenges in terms of recognition, description, and classification. This review describes a practical approach to imaging and classifying the most common supratentorial brain malformations. It begins with a discussion of embryology and optimal imaging technique and then summarizes distinguishing imaging features for several major categories of cerebral malformation, including holoprosencephaly, gray matter heterotopia, lissencephaly/pachygyria, focal cortical dysplasia, polymicrogyria, and cobblestone malformation. The importance of identifying abno...
Source: Radiologic Clinics of North America - June 8, 2017 Category: Radiology Authors: Edward Yang, Winnie C.W. Chu, Edward Y. Lee Source Type: research

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.
This report describes a family of four affected sisters with polymicrogyria, refractory seizures, and intellectual impairment of varying severity with a Lennox-Gastaut phenotype, and complex eye abnormalities where a syndromic diagnosis was not initially made. Whole exome sequencing of two affected sisters followed by filtering for rare and potentially disease causing variants in all genes identified compound heterozygous variants in NM_030582.3 (COL18A1): c.3690G > A: p.(Trp1230*) and NM_030582.3 (COL18A1): c.4063_4064delCT: p.(Leu1355Valfs*72). The two variants co-segregated with the affected individuals in the fami...
Source: European Journal of Medical Genetics - June 8, 2017 Category: Genetics & Stem Cells Authors: Corbett MA, Turner SJ, Gardner A, Silver J, Stankovich J, Leventer RJ, Derry CP, Carroll R, Ha T, Scheffer IE, Bahlo M, Jackson GD, Mackey DA, Berkovic SF, Gecz J Tags: Eur J Med Genet Source Type: research

Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene
No abstract available
Source: Clinical Dysmorphology - June 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Serial Head and Brain Imaging of 17 Fetuses With Confirmed Zika Virus Infection in Colombia, South America.
CONCLUSION: Our analysis suggests a period of at least 15 weeks between maternal Zika virus infection in pregnancy and development of microcephaly and highlights the importance of serial and detailed neuroimaging. PMID: 28594771 [PubMed - as supplied by publisher]
Source: Obstetrics and Gynecology - June 6, 2017 Category: OBGYN Authors: Parra-Saavedra M, Reefhuis J, Piraquive JP, Gilboa SM, Badell ML, Moore CA, Mercado M, Valencia D, Jamieson DJ, Beltran M, Sanz-Cortes M, Rivera-Casas AM, Yepez M, Parra G, Ospina Martinez M, Honein MA Tags: Obstet Gynecol Source Type: research

Neuroradiographic findings in 22q11.2 deletion syndrome
22q11.2 deletion syndrome (22q11.2DS) is a common genetic disorder with enormous phenotypic heterogeneity. Despite the established prevalence of developmental and neuropsychiatric issues in this syndrome, its neuroanatomical correlates are not as well understood. A retrospective chart review was performed on 111 patients diagnosed with 22q11.2DS. Of the 111 patients, 24 with genetically confirmed 22q11.2 deletion and brain MRI or MRA were included in this study. The most common indications for imaging were unexplained developmental delay (6/24), seizures of unknown etiology (5/24), and unilateral weakness (3/24). More than...
Source: American Journal of Medical Genetics Part A - June 3, 2017 Category: Genetics & Stem Cells Authors: Lauren A. Bohm, Tom C. Zhou, Tyler J. Mingo, Sarah L. Dugan, Richard J. Patterson, James D. Sidman, Brianne B. Roby Tags: ORIGINAL ARTICLE Source Type: research

Spectrum of Spinal Cord, Spinal Root, and Brain MRI Abnormalities in Congenital Zika Syndrome with and without Arthrogryposis PEDIATRICS
CONCLUSIONS: Most infants had some degree of spinal cord thickness reduction, predominant in the thoracic segment (without arthrogryposis) or in the entire spinal cord (with arthrogryposis). The conus medullaris anterior roots were reduced in both groups (thinner in arthrogryposis). A prominent anterior median fissure of the spinal cord was absent in infants without arthrogryposis. Brain stem hypoplasia was present in all infants with arthrogryposis, periventricular calcifications, in the majority, and polymicrogyria was absent.
Source: American Journal of Neuroradiology - May 15, 2017 Category: Radiology Authors: Aragao, M. F. V. V., Brainer-Lima, A. M., Holanda, A. C., van der Linden, V., Vasco Aragao, L., Silva Junior, M. L. M., Sarteschi, C., Petribu, N. C. L., Valenca, M. M. Tags: PEDIATRICS Source Type: research

Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel
Publication date: Available online 11 May 2017 Source:The Journal of Molecular Diagnostics Author(s): Fengqi Chang, Liu Liu, Erica Fang, Guangcheng Zhang, Tiansheng Chen, Kajia Cao, Yanchun Li, Marilyn M. Li Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in the genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway. Because of...
Source: The Journal of Molecular Diagnostics - May 11, 2017 Category: Pathology Source Type: research

Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway
Publication date: Available online 11 May 2017 Source:The Journal of Molecular Diagnostics Author(s): Gozde Akgumus, Fengqi Chang, Marilyn M. Li Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/sk...
Source: The Journal of Molecular Diagnostics - May 11, 2017 Category: Pathology Source Type: research

Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel
Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in the genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway. Because of the low-abundance nature of these pathogenic variants, Sanger sequencing often yields negative results.
Source: Journal of Molecular Diagnostics - May 11, 2017 Category: Pathology Authors: Fengqi Chang, Liu Liu, Erica Fang, Guangcheng Zhang, Tiansheng Chen, Kajia Cao, Yanchun Li, Marilyn M. Li Tags: Regular Article Source Type: research

Partial encephalocraniocutaneous lipomatosis syndrome
S Velusamy, S Sindhu Bharathi, B KrishnakumarJournal of Pediatric Neurosciences 2017 12(1):102-104 Encephalocranial lipomatosis is a rare disorder that characteristically involves ectomesodermal tissues such as skin, eye, and the central nervous system. Here, we report a 3-year-old girl presented with developmental delay, seizures, limbal dermoid, and weakness of right lower limb. Imaging revealed hemiatrophy, arachnoid cyst, and polymicrogyria. The constellation of clinical finding and imaging leads to the diagnosis.
Source: Journal of Pediatric Neurosciences - May 4, 2017 Category: Neuroscience Authors: S Velusamy S Sindhu Bharathi B Krishnakumar Source Type: research

Malformations of cortical development: a case series of prenatal neurologic consultations and outcomes (P4.162)
Conclusions:The clinical presentation of these infants is on a spectrum of neurological issues, mostly in the severe category. Prenatal counseling includes cautious consideration of parental expectations, available long-term data on neurodevelopment and functional outcomes, limitations of neuroimaging and genetic testing, and critical decision making from both clinicians and families. Prenatal counselling needs to be individualized, based on associated anomalies and testing, for management during the perinatal period. Also it is extremely important to consider and discuss appropriate resuscitation measures and palliative c...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Keller, J., Emrick, L., Clark, G., Agarwal, S. Tags: Child Neurology II Source Type: research