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Cerebellar hypoplasia

Chen-Jei Hong, Bruce A Hamilton
Zfp423 encodes a 30-zinc finger transcription factor that intersects several canonical signaling pathways. Zfp423 mutations result in ciliopathy-related phenotypes, including agenesis of the cerebellar vermis in mice and Joubert syndrome (JBTS19) and nephronophthisis (NPHP14) in humans. Unlike most ciliopathy genes, Zfp423 encodes a nuclear protein and its developmental expression is complex, leading to alternative proposals for cellular mechanisms. Here we show that Zfp423 is expressed by cerebellar granule cell precursors, that loss of Zfp423 in these precursors leads to cell-intrinsic reduction in proliferation, loss of response to Shh, and primary cilia abnormalities that include diminished frequency of both Smoothened and IFT88 localization...
October 2016: PLoS Genetics
Mohammad Zare Mehrjardi, Elham Keshavarz, Andrea Poretti, Adriano N Hazin
Zika virus (ZIKV) is an arbovirus from the Flaviviridae family. It is usually transmitted by mosquito bite. There have been no reports of severe symptoms caused by ZIKV infection up until the last few years. In October 2013 an outbreak was reported in French Polynesia with severe neurological complications in some affected cases. In November 2015, the Ministry of Health of Brazil attributed the increased number of neonatal microcephaly cases in northeastern Brazil to congenital ZIKV infection. The rapid spread of the virus convinced the World Health Organization to announce ZIKV infection as a "Public Health Emergency of International Concern" in February 2016...
October 6, 2016: Japanese Journal of Radiology
Adriana Suely de Oliveira Melo, Renato Santana Aguiar, Melania Maria Ramos Amorim, Monica B Arruda, Fabiana de Oliveira Melo, Suelem Taís Clementino Ribeiro, Alba Gean Medeiros Batista, Thales Ferreira, Mayra Pereira Dos Santos, Virgínia Vilar Sampaio, Sarah Rogéria Martins Moura, Luciana Portela Rabello, Clarissa Emanuelle Gonzaga, Gustavo Malinger, Renato Ximenes, Patricia Soares de Oliveira-Szejnfeld, Fernanda Tovar-Moll, Leila Chimelli, Paola Paz Silveira, Rodrigo Delvechio, Luiza Higa, Loraine Campanati, Rita M R Nogueira, Ana Maria Bispo Filippis, Jacob Szejnfeld, Carolina Moreira Voloch, Orlando C Ferreira, Rodrigo M Brindeiro, Amilcar Tanuri
Importance: Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during pregnancy. To our knowledge, most reports to date have focused on select aspects of the maternal or fetal infection and fetal effects. Objective: To describe the prenatal evolution and perinatal outcomes of 11 neonates who had developmental abnormalities and neurological damage associated with ZIKV infection in Brazil...
October 3, 2016: JAMA Neurology
Hannah Klein, Glenda K Rabe, Bahri Karacay, Daniel J Bonthius
Lymphocytic choriomeningitis virus (LCMV) infection during pregnancy injures the human fetal brain. Neonatal rats inoculated with LCMV are an excellent model of congenital LCMV infection because they develop cerebellar injuries similar to those in humans. To evaluate the role of T-lymphocytes in LCMV-induced cerebellar pathology, congenitally athymic rats, deficient in T-lymphocytes were compared with euthymic rats. Peak viral titers and cellular targets of infection were similar, but viral clearance from astrocytes was impaired in the athymic rats...
September 25, 2016: Journal of Neuropathology and Experimental Neurology
S Boronat, A Sánchez-Montañez, N Gómez-Barros, C Jacas, L Martínez-Ribot, E Vázquez, M Del Campo
Fetal alcohol spectrum disorders (FASD) include physical and neurodevelopmental abnormalities related to prenatal alcohol exposure. Some neuroimaging findings have been clearly related to FASD, including corpus callosum and cerebellar anomalies. However, detailed studies correlating with specific FASD categories, that is, the fetal alcohol syndrome (FAS), partial FAS (pFAS) and alcohol related neurodevelopmental disorders (ARND), are lacking. We prospectively performed clinical assessment and brain MR imaging to 72 patients with suspected FASD, and diagnosis was confirmed in 62...
September 9, 2016: European Journal of Medical Genetics
M Jaber
SCIENTIFIC BACKGROUND: Autism spectrum disorders (ASD) are neurodevelopmental disorders associated with disturbances in communication, social interactions, cognition and affect. ASD are also accompanied by complex movement disorders, including ataxia. A special focus of recent research in this area is made on the striatum and the cerebellum, two structures known not only to control movement but also to be involved in cognitive functions such as memory and language. Dysfunction within the motor system may be associated with abnormal movements in ASD that are translated into ataxia, abnormal pattern of righting, gait sequencing, development of walking, and hand positioning...
September 8, 2016: L'Encéphale
J S Cohen, S Srivastava, K D Farwell Hagman, D N Shinde, R Huether, D Darcy, R Wallerstein, G Houge, S Berland, K G Monaghan, A Poretti, A L Wilson, W K Chung, A Fatemi
Identification of rare genetic variants in patients with intellectual disability (ID) has been greatly accelerated by advances in next generation sequencing technologies. However, due to small numbers of patients, the complete phenotypic spectrum associated with pathogenic variants in single genes is still emerging. Among these genes is ZBTB18 (ZNF238), which is deleted in patients with 1q43q44 microdeletions who typically present with ID, microcephaly, corpus callosum (CC) abnormalities, and seizures. Here we provide additional evidence for haploinsufficiency or dysfunction of the ZBTB18 gene as the cause of ID in five unrelated patients with variable syndromic features who underwent whole exome sequencing revealing separate de novo pathogenic or likely pathogenic variants in ZBTB18 (two missense alterations and three truncating alterations)...
September 6, 2016: Clinical Genetics
Aytul Corbacioglu Esmer, Tugba Sarac Sivrikoz, Elif Yilmaz Gulec, Salim Sezer, Ibrahim Kalelioglu, Recep Has, Atil Yuksel
Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case...
October 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Osamu Kotani, Tadaki Suzuki, Masaru Yokoyama, Naoko Iwata-Yoshikawa, Noriko Nakajima, Hironori Sato, Hideki Hasegawa, Fumihiro Taguchi, Hiroyuki Shimizu, Noriyo Nagata
: Saffold virus (SAFV), a human cardiovirus, is occasionally detected in infants with neurological disorders, including meningitis and cerebellitis. We recently reported that SAFV type 3 isolates infect cerebellar glial cells, but not large neurons, in mice. However, the impact of this infection remained unclear. Here, we determined the neuropathogenesis of SAFV type 3 in the cerebella of neonatal ddY mice using SAFV passaged in the cerebellum of neonatal BALB/c mice. The virus titer in the cerebellum increased following inoculation of each of five passaged strains...
August 31, 2016: Journal of Virology
Laura Sanapo, Michael Wien, Matthew T Whitehead, Anna Blask, Michael Gallagher, Roberta L DeBiasi, Adre du Plessis
We report a case of fetal cerebellar hemorrhage and hypoplasia, identified by fetal MRI after intrauterine blood transfusion at 21 weeks' gestation for treatment of severe anemia due to congenital Parvovirus infection. Postnatal MRI confirmed atrophy of bilateral cerebellar hemispheres and inferior vermis. Cerebellar capillaries may be extremely susceptible to hemodynamic changes in the setting of intrauterine blood transfusion due to severe anemia. Although the correlation between fetal intracranial anomalies and Parvovirus infection remains unclear, in this population, a detailed evaluation of the brain parenchyma should be considered prior to and after intrauterine blood transfusion...
August 25, 2016: Journal of Maternal-fetal & Neonatal Medicine
Rieko Sato, Jun-Ichi Takanashi, Yu Tsuyusaki, Mitsuhiro Kato, Hirotomo Saitsu, Naomichi Matsumoto, Takao Takahashi
ZNF335 was first reported in 2012 as a causative gene for microcephaly. Because only 1 consanguineous pedigree has ever been reported, the key clinical features associated with ZNF335 mutations remain unknown. In this article, we describe another family harboring ZNF335 mutations. The female proband was the first child of nonconsanguineous Japanese parents. At birth, microcephaly was absent; her head circumference was 32.0 cm (-0.6 SD). At 3 months, microcephaly was noted, (head circumference, 34.0 cm [-4.6 SD])...
September 2016: Pediatrics
Dao Pei Zhang, Qian Kun Ma, Jie Wen Zhang, Shu Ling Zhang, Gui Feng Lu, Suo Yin
Vertebral artery hypoplasia (VAH) has been considered a risk factor of posterior circulation infarction (PCI), especially in the territory of the posterior inferior cerebellar artery (PICA). But whether VAH is an independent risk factor for PCI remains uncertain and how VAH participates in the evolvement of PCI is still not clear either. Therefore, this study aims to examine whether VAH is an independent risk factor for PCI and evaluate the effect of VAH on the cerebral perfusion in the territory of the PICA detected by perfusion magnetic resonance imaging (MRI) semiquantitatively...
September 15, 2016: Journal of the Neurological Sciences
Anders Bergström, Sanne S Kaalund, Kerstin Skovgaard, Anders D Andersen, Bente Pakkenberg, Ann Rosenørn, Ruurd M van Elburg, Thomas Thymann, Gorm O Greisen, Per T Sanglid
Preterm pigs show many signs of immaturity that are characteristic of preterm infants. In preterm infants, the cerebellum grows particularly rapid and hypoplasia and cellular lesions are associated with motor dysfunction and cognitive deficits. We hypothesized that functional brain delays observed in preterm pigs would be paralleled by both structural and molecular differences in the cerebellum relative to term born piglets. Cerebella were collected from term (n = 56) and preterm (90% gestation, n = 112) pigs at 0, 5, and 26 days after birth for stereological volume estimations, large-scale qPCR gene expression analyses (selected neurodevelopmental genes) and western blot protein expression analysis (Sonic Hedgehog pathway)...
July 2016: Physiological Reports
Fabian Baertling, Dirk Klee, Tobias B Haack, Holger Prokisch, Thomas Meitinger, Ertan Mayatepek, Jörg Schaper, Felix Distelmaier
The knowledge about the genetic spectrum underlying paediatric mitochondrial diseases is rapidly growing. As a consequence, the range of neuroimaging findings associated with mitochondrial diseases became extremely broad. This has important implications for radiologists and clinicians involved in the care of these patients. Here, we provide a condensed overview of brain magnetic resonance imaging (MRI) findings in children with genetically confirmed mitochondrial diseases. The neuroimaging spectrum ranges from classical Leigh syndrome with symmetrical lesions in basal ganglia and/or brain stem to structural abnormalities including cerebellar hypoplasia and corpus callosum dysgenesis...
July 23, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Ross Mangum, Elizabeth Varga, Daniel R Boué, David Capper, Martin Benesch, Jeffrey Leonard, Diana S Osorio, Christopher R Pierson, Nicholas Zumberge, Felix Sahm, Daniel Schrimpf, Stefan M Pfister, Jonathan L Finlay
INTRODUCTION: Individuals with Down syndrome (DS) have an increased risk of acute leukemia compared to a markedly decreased incidence of solid tumors. Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case. As demonstrated in a mouse model, DS is associated with cerebellar hypoplasia and a decreased number of cerebellar granule neuron progenitor cells (CGNPs) in the external granule cell layer (EGL)...
July 21, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Toshifumi Suzuki, Noriko Miyake, Yoshinori Tsurusaki, Nobuhiko Okamoto, Adila Alkindy, Aya Inaba, Mai Sato, Shuichi Ito, Kazuhiro Muramatsu, Shigemi Kimura, Daisuke Ieda, Shinji Saitoh, Masato Hiyane, Hiroshi Suzumura, Kazuyori Yagyu, Hideaki Shiraishi, Midori Nakajima, Noboru Fueki, Yumi Habata, Yuki Ueda, Yumiko Komatsu, Kunimasa Yan, Konomi Shimoda, Yoshihiko Shitara, Seiji Mizuno, Kenji Ichinomiya, Kiyoko Sameshima, Yu Tsuyusaki, Kenji Kurosawa, Yasunari Sakai, Kazuhiro Haginoya, Yasuko Kobayashi, Chikage Yoshizawa, Masataka Hisano, Mitsuko Nakashima, Hirotomo Saitsu, Satoru Takeda, Naomichi Matsumoto
Joubert syndrome (JS) is rare recessive disorders characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles, and a deep interpeduncular fossa which is defined by neuroimaging and is termed the "molar tooth sign". JS is genetically highly heterogeneous, with at least 29 disease genes being involved. To further understand the genetic causes of JS, we performed whole exome sequencing in 24 newly recruited JS families. Together with six previously reported families, we identified causative mutations in 25 out of 30 (24 + 6) families (83...
July 19, 2016: Clinical Genetics
Kaspar Ekert, Samuel Groeschel, Iciar Sánchez-Albisua, Saskia Frölich, Andrea Dieckmann, Corinna Engel, Ingeborg Krägeloh-Mann
BACKGROUND: Pontocerebellar hypoplasia type 2 (PCH2) is caused by a defect in the TSEN54-gene and leads to severe and early disruption of brain development, especially of cerebellum and pons. The aim of this work was to quantify the infra- and supratentorial brain growth during postnatal brain development in children with PCH2. METHODS: MRI data of 24 children with PCH2 (age 0.02-17 years., 13 females) were analysed volumetrically and compared to images of 24 typically developing age- and gender-matched children...
2016: Orphanet Journal of Rare Diseases
Andrea Poretti, Eugen Boltshauser, Thierry A G M Huisman
There is increasing evidence that the cerebellum is susceptible to prenatal infections and hemorrhages and that congenital morphologic anomalies of the cerebellum may be caused by disruptive (acquired) causes. Starting from the neuroimaging pattern, this report describes a spectrum of prenatal cerebellar disruptions including cerebellar agenesis, unilateral cerebellar hypoplasia, cerebellar cleft, global cerebellar hypoplasia, and vanishing cerebellum in Chiari type II malformation. The neuroimaging findings, possible causative disruptive events, and clinical features of each disruption are discussed...
August 2016: Neuroimaging Clinics of North America
Jan Fortuniak, Ernest Bobeff, Michał Polguj, Katarzyna Kośla, Ludomir Stefańczyk, Dariusz J Jaskólski
PURPOSE: The aim of this study is to evaluate the incidence of the anatomical anomalies of the V3 segment of the vertebral artery in the Polish population. There is conflicting evidence on the incidence of these anomalies: Asian-based studies show high incidence of 10 %, whereas the North American study identifies these anomalies in less than 1 % of patients. METHODS: 1800 computed tomography angiographies (CTA) obtained at the Barlicki University Hospital in Lodz, Poland, were reviewed retrospectively...
June 23, 2016: European Spine Journal
Shwetha Chiplunkar, Parayil Sankaran Bindu, Madhu Nagappa, Cheminikara Bineesh, Periyasamy Govindaraj, Narayanappa Gayathri, M M Srinivas Bharath, Hanumanthapura R Arvinda, Pavagada S Mathuranath, Sanjib Sinha, Arun B Taly
Huppke -Brendel syndrome is a new addition to the evolving spectrum of copper metabolism defects. It is an autosomal recessive disorder characterized by congenital cataract, impaired hearing, and developmental delay with low copper and ceruloplasmin. It is caused by defects in SLC33A1 that codes for acetyl CoA transporter protein. Reports on variation in this gene causing human disease is extremely scarce and the metabolic link between this gene and copper metabolism is yet to be identified. Here we report a seven months old infant with Huppke-Brendel Syndrome...
October 2016: Metabolic Brain Disease
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