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polymicrogyria

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https://www.readbyqxmd.com/read/28444780/fetal-brain-injury-in-complicated-monochorionic-pregnancies-diagnostic-yield-of-prenatal-mri-following-surveillance-ultrasound-and-influence-on-prognostic-counselling
#1
Alice Robinson, Mark Teoh, Andrew Edwards, Michael Fahey, Stacy Goergen
OBJECTIVE: To determine the additional diagnostic information provided by prenatal (fetal) magnetic resonance imaging (pMRI) following tertiary ultrasound (US) for fetal cranial abnormalities in complicated monochorionic gestations (cMCGs) METHODS: Women with cMCGs complicated by twin - twin transfusion syndrome (TTTS), co-twin demise (CD), selective intrauterine growth restriction (sIUGR), and / or twin anemia - polycythemia sequence (TAPS) who were referred for pMRI after tertiary US were included...
April 26, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28424266/disease-associated-extracellular-loop-mutations-in-the-adhesion-g-protein-coupled-receptor-g1-adgrg1-gpr56-differentially-regulate-downstream-signaling
#2
Ayush Kishore, Randy A Hall
Mutations to the adhesion G protein-coupled receptor ADGRG1 (G1; also known as GPR56) underlie the neurological disorder bilateral frontoparietal polymicrogyria (BFPP). Disease-associated mutations in G1 studied to date are believed to induce complete loss of receptor function, either through disruption of 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 BFPP-inducing extracellular loop mutations (R565W and L640R) in the context of both full-length and N-terminally truncated (deltaNT) G1...
April 19, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28395088/neuropathological-hallmarks-of-brain-malformations-in-extreme-phenotypes-related-to-dync1h1-mutations
#3
Annie Laquerriere, Camille Maillard, Mara Cavallin, Françoise Chapon, Florent Marguet, Arnaud Molin, Sabine Sigaudy, Marie Blouet, Guillaume Benoist, Carla Fernandez, Karine Poirier, Jamel Chelly, Sophie Thomas, Nadia Bahi-Buisson
Dyneins play a critical role in a wide variety of cellular functions such as the movement of organelles and numerous aspects of mitosis, making it central player in neocortical neurogenesis and migration. Recently, cytoplasmic dynein-1, heavy chain-1 (DYNC1H1) mutations have been found to cause a wide spectrum of brain cortical malformations. We report on the detailed neuropathological features of brain lesions from 2 fetuses aged 36 and 22 weeks of gestation (WG), respectively, carrying de novo DYNC1H1 mutations, p...
March 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28388629/a-tubulin-alpha-8-mouse-knockout-model-indicates-a-likely-role-in-spermatogenesis-but-not-in-brain-development
#4
Christine P Diggle, Isabel Martinez-Garay, Zoltan Molnar, Martin H Brinkworth, Ed White, Ewan Fowler, Ruth Hughes, Bruce E Hayward, Ian M Carr, Christopher M Watson, Laura Crinnion, Aruna Asipu, Ben Woodman, P Louise Coletta, Alexander F Markham, T Neil Dear, David T Bonthron, Michelle Peckham, Ewan E Morrison, Eamonn Sheridan
Tubulin alpha 8 (Tuba8) is the most divergent member of the highly conserved alpha tubulin family, and uniquely lacks two key post-translational modification sites. It is abundantly expressed in testis and muscle, with lower levels in the brain. We previously identified homozygous hypomorphic TUBA8 mutations in human subjects with a polymicrogyria (PMG) syndrome, suggesting its involvement in development of the cerebral cortex. We have now generated and characterized a Tuba8 knockout mouse model. Homozygous mice were confirmed to lack Tuba8 protein in the testis, but did not display PMG and appeared to be neurologically normal...
2017: PloS One
https://www.readbyqxmd.com/read/28386946/comprehensive-molecular-screening-strategy-of-ocln-in-band-like-calcification-with-simplified-gyration-and-polymicrogyria
#5
Emma M Jenkinson, John H Livingston, Mary C O'Driscoll, Isabelle Desguerre, Rima Nabbout, Nathalie Boddaert, Gabriela Soares, Miguel Gonçalves da Rocha, Stefano D'Arrigo, Gillian I Rice, Yanick J Crow
Occludin (OCLN) is an important component of the tight junction complex, providing apical intercellular connections between adjacent cells in endothelial and epithelial tissue. In 2010 O'Driscoll and colleagues reported mutations in OCLN to cause band-like calcification with simplified gyration and polymicrogyria (BLC-PMG). BLC-PMG is a rare autosomal recessive syndrome, characterised by early onset seizures, progressive microcephaly, severe developmental delay and deep cortical gray matter and basal ganglia calcification with symmetrical, predominantly fronto-parietal, polymicrogyria...
April 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28377535/grin2b-encephalopathy-novel-findings-on-phenotype-variant-clustering-functional-consequences-and-treatment-aspects
#6
Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike O Heyne, Katherine L Helbig, Sha Tang, Marcia C Willing, Brad T Tinkle, Darius J Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M Strom, Heather C Mefford, Candace T Myers, Alison M Muir, Amy LaCroix, Lynette Sadleir, Ingrid E Scheffer, Eva Brilstra, Mieke M van Haelst, Jasper J van der Smagt, Levinus A Bok, Rikke S Møller, Uffe B Jensen, John J Millichap, Anne T Berg, Ethan M Goldberg, Isabelle De Bie, Stephanie Fox, Philippe Major, Julie R Jones, Elaine H Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J Leventer, John A Lawson, Tony Roscioli, Floor E Jansen, Emmanuelle Ranza, Christian M Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Douglas R Smith, Christine Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen-Hann Tan, Mark A Tarnopolsky, Lauren I Brady, Markus Wolff, Lutz Dondit, Helio F Pedro, Sarah E Parisotto, Kelly L Jones, Anup D Patel, David N Franz, Rena Vanzo, Elysa Marco, Judith D Ranells, Nataliya Di Donato, William B Dobyns, Bodo Laube, Stephen F Traynelis, Johannes R Lemke
BACKGROUND: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. METHODS: Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care...
April 4, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28364011/spectrum-of-spinal-cord-spinal-root-and-brain-mri-abnormalities-in-congenital-zika-syndrome-with-and-without-arthrogryposis
#7
M F V V Aragao, A M Brainer-Lima, A C Holanda, V van der Linden, L Vasco Aragão, M L M Silva, C Sarteschi, N C L Petribu, M M Valença
BACKGROUND AND PURPOSE: Arthrogryposis is among the malformations of congenital Zika syndrome. Similar to the brain, there might exist a spectrum of spinal cord abnormalities. The purpose of this study was to explore and describe in detail the MR imaging features found in the spinal cords, nerve roots, and brains of children with congenital Zika syndrome with and without arthrogryposis. MATERIALS AND METHODS: Twelve infants with congenital Zika syndrome (4 with arthrogryposis and 8 without) who had undergone brain and spinal cord MR imaging were retrospectively selected...
March 31, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28334078/relationships-between-morphologic-and-functional-patterns-in-the-polymicrogyric-cortex
#8
Matteo Lenge, Carmen Barba, Domenico Montanaro, Gayane Aghakhanyan, Francesca Frijia, Renzo Guerrini
Polymicrogyria is a malformation of cortical folding and layering underlying different cognitive and neurological manifestations. The polymicrogyric cortex has heterogeneous morphofunctional patterns, qualitatively described at magnetic resonance imaging (MRI) by variable severity gradients and functional activations. We investigated the link between abnormal cortical folding and cortical function in order to improve surgical planning for patients with polymicrogyria and intractable epilepsy. We performed structural and functional MRI on 14 patients with perisylvian polymicrogyria and adopted surface-based methods to detect alterations of cortical thickness (CT) and local gyrification index (LGI) compared with normal cortex (30 age-matched subjects)...
February 18, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28300030/hemispheric-polymicrogyria-and-neonatal-seizures-a-potentially-life-threatening-combination
#9
Paula M Brna, A Simon Harvey, Richard J Leventer
Polymicrogyria (PMG) is a heterogeneous malformation of cortical development characterized by excessive gyration and abnormal cortical lamination. Typically, bilateral forms have more severe developmental delay and early-onset epilepsy, but the full spectrum of severity remains ill-defined. We report two cases of right hemispheric PMG and neonatal-onset, drug-resistant seizures culminating in early death. Case 1 began having seizures on Day 1 of life that intensified in severity and proved resistant to numerous antiepileptic drugs...
March 14, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28286253/chiari-i-malformation-in-a-child-with-pten-hamartoma-tumor-syndrome-association-or-coincidence
#10
Veronica Saletti, Silvia Esposito, Angelo Maccaro, Sabrina Giglio, Laura Grazia Valentini, Luisa Chiapparini
PTEN hamartoma tumor syndrome (PHTS) refers to a group of clinical conditions caused by germline mutations in the PTEN tumor suppressor gene. Increasing evidence has documented that PHTS may be associated with a broader spectrum of structural brain abnormalities, including dysplastic gangliocytoma of the cerebellum, brain tumors, vascular malformations, white matter abnormalities, dilated perivascular spaces and cortical dysplasia. We report a PTEN-mutated child showing macrocephaly, mild intellectual disability and epilepsy symptomatic of right occipital polymicrogyria, who also developed Chiari I Malformation (CIM) that repeatedly required surgical correction...
March 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28220750/clinical-neuropathology-teaching-case-2-2017-polymicrogyria-in-an-adult-with-right-sided-spastic-hemiparesis
#11
Ellen Gelpi, Romana Höftberger, Arno Beer, Johannes A Hainfellner
No abstract text is available yet for this article.
March 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28202825/-ictal-speech-manifesting-as-sleep-talking-a-case-report
#12
Takehiro Suzuki, Yosuke Kakisaka, Yu Kitazawa, Kazutaka Jin, Shiho Sato, Masaki Iwasaki, Mayu Fujikawa, Yoshiyuki Nishio, Akitake Kanno, Nobukazu Nakasato
We present a 28-year-old female patient whose epilepsy started at the age of 19. MRI showed right perisylvian polymicrogyria. She exhibited various seizure symptoms, such as somatosensory aura involving the left leg, dyscognitive seizures, and amnesic seizures. Her mother indicated that the patient sometimes had "sleep talking", which was associated with presence of epileptic seizures of the next day. Long-term video electroencephalography (EEG) revealed that her episodes of "sleep talking" were epileptic events, specifically ictal speech, originating in the right hemisphere...
February 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28179633/band-like-calcification-with-simplified-gyration-and-polymicrogyria-report-of-10-new-families-and-identification-of-five-novel-ocln-mutations
#13
Mohamed S Abdel-Hamid, Ghada M H Abdel-Salam, Mahmoud Y Issa, Bayoumi A Emam, Maha S Zaki
Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is an extremely rare autosomal recessive disorder with distinctive clinical and neuroimaging findings. To date, only 17 patients from 9 unrelated families with BLC-PMG have been reported worldwide. Herein, we describe a series of 13 new patients derived from 10 unrelated Egyptian families. Patients presented at early life with the classic phenotype including severe microcephaly, failure to acquire developmental skills, growth failure and the distinguished calcification patterns involving the cortex, thalami, basal ganglia and pons...
April 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28168853/prenatal-and-postnatal-presentations-of-corpus-callosum-agenesis-with-polymicrogyria-caused-by-egp5-mutation
#14
Camille Maillard, Mara Cavallin, Kevin Piquand, Marion Philbert, Jean Philippe Bault, Anne Elodie Millischer, Despina Moshous, Marlène Rio, Cyril Gitiaux, Nathalie Boddaert, Cecile Masson, Sophie Thomas, Nadia Bahi-Buisson
EPG5-related Vici syndrome is a rare multisystem autosomal recessive disorder characterized by corpus callosum agenesis (ACC), hypopigmentation, cataracts, acquired microcephaly, failure to thrive, cardiomyopathy and profound developmental delay, and immunodeficiency. We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed the identification of a compound heterozygous mutation in the EPG5 gene. Our patient subsequently demonstrated severe developmental delay, hypopigmentation, progressive microcephaly, and failure to thrive which led to suspicion of the diagnosis...
February 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28130172/brain-specific-knockin-of-the-pathogenic-tubb5-e401k-allele-causes-defects-in-motor-coordination-and-prepulse-inhibition
#15
Martin W Breuss, Andi H Hansen, Lukas Landler, David A Keays
The generation, migration, and differentiation of neurons requires the functional integrity of the microtubule cytoskeleton. Mutations in the tubulin gene family are known to cause various neurological diseases including lissencephaly, ocular motor disorders, polymicrogyria and amyotrophic lateral sclerosis. We have previously reported that mutations in TUBB5 cause microcephaly that is accompanied by severe intellectual impairment and motor delay. Here we present the characterization of a Tubb5 mouse model that allows for the conditional expression of the pathogenic E401K mutation...
April 14, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28114705/recurrence-of-epileptic-spasms-as-reflex-seizures-induced-by-eating-a-case-report-and-literature-review
#16
REVIEW
Yoshiyuki Kobayashi, Nobutsune Ishikawa, Hiroo Tani, Yuji Fujii, Masao Kobayashi
Background Eating epilepsy (EE) is a rare form of reflex epilepsy in which seizures are induced by eating. It is known that most patients with eating seizures, in fact, suffer from symptomatic temporal lobe epilepsy (TLE), whereas only a few patients with epileptic spasms induced by eating (E-ES) have been reported. Patient Description The patient was an 8-year-old girl whose magnetic resonance imaging (MRI) of the head detected dysgenesis of the corpus callosum, cerebellar hypogenesis, marked cerebral asymmetry, broad polymicrogyria, periventricular heterotopia, and closed lip-type schizencephaly...
April 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28074379/neuroimaging-findings-of-congenital-zika-virus-infection-a-pictorial-essay
#17
Mohammad Zare Mehrjardi, Andrea Poretti, Thierry A G M Huisman, Heron Werner, Elham Keshavarz, Edward Araujo Júnior
Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses...
March 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/28059706/the-prevalence-of-malformations-of-cortical-development-in-a-pediatric-hereditary-hemorrhagic-telangiectasia-population
#18
G J Palagallo, S R McWilliams, L A Sekarski, A Sharma, M S Goyal, A J White
BACKGROUND AND PURPOSE: Brain AVM, cerebral abscess, and ischemic stroke are among the well known neurologic manifestations of hereditary hemorrhagic telangiectasia. However, recently reported data suggest an additional association with malformations of cortical development. The purpose of this study was to determine the prevalence of malformations of cortical development in a population of pediatric patients with hereditary hemorrhagic telangiectasia. MATERIALS AND METHODS: A retrospective review of brain MRIs from 116 pediatric patients was performed...
November 10, 2016: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28018470/megalencephaly-capillary-malformation-polymicrogyria-syndrome-the-first-case-report-in-korea
#19
Yeon-Chul Choi, Mi-Sun Yum, Min-Jee Kim, Yun-Jung Lee, Tae-Sung Ko
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27992967/role-of-fetal-mri-in-the-evaluation-of-isolated-and-non-isolated-corpus-callosum-dysgenesis-results-of-a-cross-sectional-study
#20
Lucia Manganaro, Silvia Bernardo, Corrado De Vito, Amanda Antonelli, Enrica Marchionni, Valeria Vinci, Matteo Saldari, Letizia Di Meglio, Antonella Giancotti, Evelina Silvestri, Carlo Catalano, Antonio Pizzuti
PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies. METHODS: We retrospectively analyzed 104 fetuses with CCD undergoing MRI between 2006 and 2016. Corpus callosum, cavum septi pellucidi, biometry, presence of ventriculomegaly, gyration anomalies, cranio-encephalic abnormalities and body malformations were evaluated...
December 19, 2016: Prenatal Diagnosis
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