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Cerebellar hypoplasia

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https://www.readbyqxmd.com/read/29290337/kiaa1109-variants-are-associated-with-a-severe-disorder-of-brain-development-and-arthrogryposis
#1
Lucie Gueneau, Richard J Fish, Hanan E Shamseldin, Norine Voisin, Frédéric Tran Mau-Them, Egle Preiksaitiene, Glen R Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim J Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M van Hasselt, Michaël Wiederkehr, Caroline F Wright, Ioannis Xenarios, Gijs van Haaften, Charles Shaw-Smith, Erica M Schindewolf, Marguerite Neerman-Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S Alkuraya, Alexandre Reymond
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). Shared phenotypic features representing the cardinal characteristics of this syndrome combine brain atrophy with clubfoot and arthrogryposis. Affected individuals present with cerebral parenchymal underdevelopment, ranging from major cerebral parenchymal thinning with lissencephalic aspect to moderate parenchymal rarefaction, severe to mild ventriculomegaly, cerebellar hypoplasia with brainstem dysgenesis, and cardiac and ophthalmologic anomalies, such as microphthalmia and cataract...
December 27, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29258560/a-clinical-series-using-intensive-neurorehabilitation-to-promote-functional-motor-and-cognitive-skills-in-three-girls-with-cask-mutation
#2
Stephanie C DeLuca, Dory A Wallace, Mary Rebekah Trucks, Konark Mukherjee
OBJECTIVES: Children with microcephaly face lifelong psychomotor, cognitive, and communications skills disabilities. Etiology of microcephaly is heterogeneous but presentation often includes seizures, hypotonia, ataxia, stereotypic movements, attention deficits, excitability, cognitive delays, and poor communication skills. Molecular diagnostics have outpaced available interventions and most children receive generic physical, speech, and occupational therapies with little attention to the efficacy of such treatments...
December 19, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29209547/an-acquired-form-of-dandy-walker-malformation-with-enveloping-hemosiderin-deposits
#3
Tadashi Shiohama, Ryo Ando, Katsunori Fujii, Hiroki Mukai, Yuki Naruke, Katsuo Sugita, Eiji Kato, Naoki Shimojo
Dandy-Walker malformation (DWM) is a posterior fossa anomaly characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. The cyst of DWM rarely extends posteriorly to almost completely fill the entire posterior fossa, which mimics primary cerebellar agenesis, a cerebellar porencephalic cyst, and an arachnoid cyst due to the lack of clarity of the thin cystic wall. A 10-month-old female born at 23 weeks' gestation with cerebellar hemorrhage in the neonatal period was admitted to our hospital with dysphagia and side-to-side head bobbing...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29184713/posterior-atlantoaxial-fusion-using-a-c2-transverse-foramen-penetrating-screw-a-technical-note
#4
Yasuhiro Takeshima, Hideki Shigematsu, Kengo Konishi, Ichiro Nakagawa, Yasushi Motoyama, Hiroyuki Nakase
Background: Although recent development of screw instrumentation techniques for rigid fixation of the atlantoaxial joint has increased surgical options, patients in whom screws of any type cannot be safely placed are sometimes encountered. We present a unique surgical technique for C1-2 transarticular screw placement utilizing a novel trajectory. Methods: A 35-year-old male with a history of Down's syndrome and cognitive dysfunction with hyperkinesis spontaneously developed rapid onset of tetraparesis and gait disturbance...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/29171184/structural-malformations-of-the-brain-eye-and-pituitary-gland-in-phace-syndrome
#5
Jack E Steiner, Garrett N McCoy, Christopher P Hess, William B Dobyns, Denise W Metry, Beth A Drolet, Mohit Maheshwari, Dawn H Siegel
PHACE syndrome is the association of segmental facial hemangiomas with congenital arterial, brain, cardiac, and ocular anomalies. Structural brain malformations affect 41-52% of PHACE patients and can be associated with focal neurologic deficits, developmental delays, and/or intellectual disability. To better characterize the spectrum of structural brain and other intracranial anomalies in PHACE syndrome, MRI scans of the head/neck were retrospectively reviewed in 55 patients from the PHACE Syndrome International Clinical Registry and Genetic Repository...
January 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29171036/prenatal-diagnosis-of-posterior-fossa-anomalies-additional-value-of-chromosomal-microarray-analysis-in-fetuses-with-cerebellar-hypoplasia
#6
Zhiyong Zou, Linhuan Huang, Shaobin Lin, Zhiming He, Hui Zhu, Yi Zhang, Qun Fang, Yanmin Luo
OBJECTIVE: To elucidate the relationship between copy number variations (CNVs) detected by high-resolution chromosomal microarray analysis (CMA) and the type of prenatal posterior fossa anomalies (PFAs), especially cerebellar hypoplasia (CH). METHODS: This study involved 77 pregnancies with PFAs who underwent CMA. RESULTS: Chromosomal aberrations including pathogenic CNVs and variants of unknown significance (VOUS) were detected in 31.2% (24/77) of all cases by CMA and in 18...
November 23, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29168327/distinct-cerebellar-foliation-anomalies-in-a-chd7-haploinsufficient-mouse-model-of-charge-syndrome
#7
Danielle E Whittaker, Sahrunizam Kasah, Alex P A Donovan, Jacob Ellegood, Kimberley L H Riegman, Holger A Volk, Imelda McGonnell, Jason P Lerch, M Albert Basson
Mutations in the gene encoding the ATP dependent chromatin-remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital-urinary anomalies, and Ear defects) syndrome. Neurodevelopmental defects and a range of neurological signs have been identified in individuals with CHARGE syndrome, including developmental delay, lack of coordination, intellectual disability, and autistic traits. We previously identified cerebellar vermis hypoplasia and abnormal cerebellar foliation in individuals with CHARGE syndrome...
November 23, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29167994/congenital-zika-virus-infection-a-neuropathological-review
#8
L Chimelli, E Avvad-Portari
BACKGROUND: A relationship between Zika virus (ZikV) infection in pregnancy and the occurrence of microcephaly was established during the Zika outbreak in Brazil (2015-2016). Neuropathological findings in congenital Zika syndrome helped to understand its pathogenetic mechanisms. RESULTS: The most relevant postmortem findings in the central nervous system (CNS) of fetuses and neonates infected with ZikV early in gestation are microcephaly with ex-vacuo ventriculomegaly and large head circumference associated with obstructive hydrocephalus due to severe midbrain and aqueduct distortion...
November 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29162129/integrating-molecular-and-structural-findings-wnt-as-a-possible-actor-in-shaping-cognitive-impairment-in-cornelia-de-lange-syndrome
#9
REVIEW
Laura Avagliano, Paolo Grazioli, Milena Mariani, Gaetano P Bulfamante, Angelo Selicorni, Valentina Massa
Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities including brain alterations. Wnt pathway is known to play a fundamental role in central nervous system development and it has been shown that Wnt pathway is disrupted in CdLS animal models and patients cells. In this review we investigate the possible link between Wnt pathway disruption and brain abnormalities in Cornelia de Lange Syndrome as such molecular impairment could lead to an abnormal embryonic development resulting in brain abnormalities (i...
November 21, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29157191/neuronal-vacuolization-in-feline-panleukopenia-virus-infection
#10
Vanessa M Pfankuche, Wendy K Jo, Erhard van der Vries, Nicole Jungwirth, Stephan Lorenzen, Albert D M E Osterhaus, Wolfgang Baumgärtner, Christina Puff
Feline panleukopenia virus (FPV) infections are typically associated with anorexia, vomiting, diarrhea, neutropenia, and lymphopenia. In cases of late prenatal or early neonatal infections, cerebellar hypoplasia is reported in kittens. In addition, single cases of encephalitis are described. FPV replication was recently identified in neurons, although it is mainly found in cells with high mitotic activity. A female cat, 2 months old, was submitted to necropsy after it died with neurologic deficits. Besides typical FPV intestinal tract changes, multifocal, randomly distributed intracytoplasmic vacuoles within neurons of the thoracic spinal cord were found histologically...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/29134361/sonic-hedgehog-agonist-protects-against-complex-neonatal-cerebellar-injury
#11
Vien Nguyen, Khalida Sabeur, Emin Maltepe, Kurosh Ameri, Omer Bayraktar, David H Rowitch
The cerebellum undergoes rapid growth during the third trimester and is vulnerable to injury and deficient growth in infants born prematurely. Factors associated with preterm cerebellar hypoplasia include chronic lung disease and postnatal glucocorticoid administration. We modeled chronic hypoxemia and glucocorticoid administration in neonatal mice to study whole cerebellar and cell type-specific effects of dual exposure. Chronic neonatal hypoxia resulted in permanent cerebellar hypoplasia. This was compounded by administration of prednisolone as shown by greater volume loss and Purkinje cell death...
November 13, 2017: Cerebellum
https://www.readbyqxmd.com/read/29106825/recurrent-de-novo-mutations-disturbing-the-gtp-gdp-binding-pocket-of-rab11b-cause-intellectual-disability-and-a-distinctive-brain-phenotype
#12
Ideke J C Lamers, Margot R F Reijnders, Hanka Venselaar, Alison Kraus, Sandra Jansen, Bert B A de Vries, Gunnar Houge, Gyri Aasland Gradek, Jieun Seo, Murim Choi, Jong-Hee Chae, Ineke van der Burgt, Rolph Pfundt, Stef J F Letteboer, Sylvia E C van Beersum, Simone Dusseljee, Han G Brunner, Dan Doherty, Tjitske Kleefstra, Ronald Roepman
The Rab GTPase family comprises ∼70 GTP-binding proteins, functioning in vesicle formation, transport and fusion. They are activated by a conformational change induced by GTP-binding, allowing interactions with downstream effectors. Here, we report five individuals with two recurrent de novo missense mutations in RAB11B; c.64G>A; p.Val22Met in three individuals and c.202G>A; p.Ala68Thr in two individuals. An overlapping neurodevelopmental phenotype, including severe intellectual disability with absent speech, epilepsy, and hypotonia was observed in all affected individuals...
October 23, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29096665/genotype-phenotype-correlations-and-expansion-of-the-molecular-spectrum-of-ap4m1-related-hereditary-spastic-paraplegia
#13
Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B Singleton, Georgia Xiromerisiou
BACKGROUND: Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients. METHODS: We investigated a Greek HSP family using whole exome sequencing (WES). RESULTS: A novel AP4M1A frameshift insertion, and a very rare missense variant were identified in all three affected siblings in the compound heterozygous state (p.V174fs and p.C319R); the unaffected parents were carriers of only one variant...
November 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29081935/clinical-heterogeneity-in-a-family-with-dkc1-mutation-dyskeratosis-congenita-and-hoyeraal-hreidarsson-syndrome-in-first-cousins
#14
Cristina Olivieri, Anna Mondino, Matteo Chinello, Alessandra Risso, Enrico Finale, Marina Lanciotti, Andrea Guala
Dyskeratosis congenita (DC) is an inherited bone marrow failure disorder characterized by mucocutaneous features (skin pigmentation, nail dystrophy and oral leukoplakia), pulmonary fibrosis, hematologic and solid malignancies. Its severe form, recognized as Hoyeraal-Hreidarsson syndrome (HHS), also includes cerebellar hypoplasia, microcephaly, developmental delay and prenatal growth retardation. In literature phenotypic variability among DC patients sharing the same mutation is wellknown. To our knowledge this report describes for the first time a family of DC patients, characterized by a member with features of classic DC and another one with some features of HHS, both with the same mutation in DKC1...
October 6, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29046629/cerebellar-vermis-and-midbrain-hypoplasia-upon-conditional-deletion-of-chd7-from-the-embryonic-mid-hindbrain-region
#15
Alex P A Donovan, Tian Yu, Jacob Ellegood, Kimberley L H Riegman, Christa de Geus, Conny van Ravenswaaij-Arts, Cathy Fernandes, Jason P Lerch, M Albert Basson
Reduced fibroblast growth factor (FGF) signaling from the mid-hindbrain or isthmus organizer (IsO) during early embryonic development results in hypoplasia of the midbrain and cerebellar vermis. We previously reported evidence for reduced Fgf8 expression and FGF signaling in the mid-hindbrain region of embryos heterozygous for Chd7, the gene mutated in CHARGE (Coloboma, Heart defects, choanal Atresia, Retarded growth and development, Genitourinary anomalies and Ear defects) syndrome. However, Chd7(+/-) animals only exhibit mild cerebellar vermis anomalies...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/29039169/-prenatal-diagnosis-of-joubert-syndrome-one-case-report-and-literature-review
#16
Hong Wen, Lu Chen, Kai Yan, Jing He
A 25-year-old nulliparity underwent prenatal ultrasonography, and the fetal cerebellar abnormality was suspected. The fetal MRI showed 'molar tooth sign' in midbrain and cerebellar vermis hypoplasia. The fetal cerebellar vermis hypoplasia was confirmed by MRI imaging and autopsy after induced abortion. The next-generation sequencing showed that the fetus had a heterozygous mutation of CC2D2A gene (c.2728C > T and c.4598T > C), which might be the cause of the disease.
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29037562/dandy-walker-syndrome-with-duplex-kidney-abnormalities-in-trisomy-18-a-rare-case-report
#17
Tun-Jun Wang, Yi-Ying Li, Wan-Ju Wu, Chi-Kang Lin, Chun-Kai Wang, Chen-Yu Wang, Kwei-Shuai Hwang, Her-Young Su
OBJECTIVE: Trisomy 18 is one of the major numerical chromosomal disorders. The incidence of trisomy 18 is approximately one in 6000 live births. Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, with an incidence of about one in 5000 live births. The incidence of trisomy 18 associated with DWM is rare and long-term survival rate is very low. CASE REPORT: A case involving a 39-year-old pregnant female with a case of trisomy 18 associated with DWM...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29033643/dandy-walker-malformation-presenting-with-affective-symptoms
#18
Mert Batmaz, Zeynep Ezgi Balçik, Ürün Özer, Burcu Hamurişçi Yalçin, Şakir Özen
Dandy-Walker malformation is defined by enlarged posterior fossa, cystic dilatation of the fourth ventricle, and cerebellar hypoplasia. Although developmental delay and mental retardation are common in Dandy-Walker malformation cases, other comorbid psychiatric conditions have been rarely reported. There are limited numbers of case reports about comorbidity of bipolar disorder with Dandy-Walker malformation in the literature. Herein, a Dandy-Walker malformation case presenting affective symptoms is reported, and psychiatric symptoms which might be seen in this rare malformation are discussed along with diagnosis, treatment, and follow-up processes...
September 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28969387/wdr81-mutations-cause-extreme-microcephaly-and-impair-mitotic-progression-in-human-fibroblasts-and-drosophila-neural-stem-cells
#19
Mara Cavallin, Maria A Rujano, Nathalie Bednarek, Daniel Medina-Cano, Antoinette Bernabe Gelot, Severine Drunat, Camille Maillard, Meriem Garfa-Traore, Christine Bole, Patrick Nitschké, Claire Beneteau, Thomas Besnard, Benjamin Cogné, Marion Eveillard, Alice Kuster, Karine Poirier, Alain Verloes, Jelena Martinovic, Laurent Bidat, Marlene Rio, Stanislas Lyonnet, M Louise Reilly, Nathalie Boddaert, Melanie Jenneson-Liver, Jacques Motte, Martine Doco-Fenzy, Jamel Chelly, Tania Attie-Bitach, Matias Simons, Vincent Cantagrel, Sandrine Passemard, Alexandre Baffet, Sophie Thomas, Nadia Bahi-Buisson
Microlissencephaly is a rare brain malformation characterized by congenital microcephaly and lissencephaly. Microlissencephaly is suspected to result from abnormalities in the proliferation or survival of neural progenitors. Despite the recent identification of six genes involved in microlissencephaly, the pathophysiological basis of this condition remains poorly understood. We performed trio-based whole exome sequencing in seven subjects from five non-consanguineous families who presented with either microcephaly or microlissencephaly...
October 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28965847/hypomorphic-recessive-variants-in-sufu-impair-the-sonic-hedgehog-pathway-and-cause-joubert-syndrome-with-cranio-facial-and-skeletal-defects
#20
Roberta De Mori, Marta Romani, Stefano D'Arrigo, Maha S Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joel Fluss, Alessia Micalizzi, Sara Nuovo, Barbara Illi, Luisa Chiapparini, Lucia Di Marcotullio, Mahmoud Y Issa, Danila Anello, Antonella Casella, Monia Ginevrino, Autumn Sa'na Leggins, Susanne Roosing, Romina Alfonsi, Jessica Rosati, Rachel Schot, Grazia Maria Simonetta Mancini, Enrico Bertini, William B Dobyns, Tommaso Mazza, Joseph G Gleeson, Enza Maria Valente
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause a spectrum of developmental disorders. SUFU is the main negative regulator of the SHH pathway and is essential during development. Indeed, Sufu knock-out is lethal in mice, and recessive pathogenic variants of this gene have never been reported in humans...
October 5, 2017: American Journal of Human Genetics
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