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Cerebellar hypoplasia

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https://www.readbyqxmd.com/read/28717667/haploinsufficiency-of-bcl11a-associated-with-cerebellar-abnormalities-in-2p15p16-1-deletion-syndrome
#1
Hiroko Shimbo, Takayuki Yokoi, Noriko Aida, Seiji Mizuno, Hiroshi Suzumura, Junichi Nagai, Kazumi Ida, Yumi Enomoto, Chihiro Hatano, Kenji Kurosawa
BACKGROUND: Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability (ID), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with 2p15p16.1 microdeletion syndrome have been reported in the literature. METHODS: Molecular analysis was performed using microarray-based comparative genomic hybridization (array CGH)...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28698159/identification-of-novel-and-hotspot-mutations-in-the-channel-domain-of-itpr1-in-two-patients-with-gillespie-syndrome
#2
M L Dentici, S Barresi, M Nardella, E Bellacchio, P Alfieri, A Bruselles, F Pantaleoni, A Danieli, G Iarossi, M Cappa, E Bertini, M Tartaglia, G Zanni
ITPR1 encodes an intracellular receptor for inositol 1,4,5-trisphosphate (InsP3) which is highly expressed in the cerebellum and is involved in the regulation of Ca2+ homeostasis. Missense mutations in the InsP3-binding domain (IRBIT) of ITPR1 are frequently associated with early onset cerebellar atrophy. Gillespie syndrome is characterized by congenital ataxia, mild to moderate intellectual disability and iris hypoplasia. Dominant or recessive ITPR1 mutations have been recently associated with this form of syndromic ataxia...
July 8, 2017: Gene
https://www.readbyqxmd.com/read/28687512/recessive-mutation-in-exosc3-associates-with-mitochondrial-dysfunction-and-pontocerebellar-hypoplasia
#3
Gudrun Schottmann, Sylvie Picker-Minh, Jana Marie Schwarz, Esther Gill, Richard J T Rodenburg, Werner Stenzel, Angela M Kaindl, Markus Schuelke
Recessive mutations in EXOSC3, encoding a subunit of the human RNA exosome complex, cause pontocerebellar hypoplasia type 1b (PCH1B). We report a boy with severe muscular hypotonia, psychomotor retardation, progressive microcephaly, and cerebellar atrophy. Biochemical abnormalities comprised mitochondrial complex I and pyruvate dehydrogenase complex (PDHc) deficiency. Whole exome sequencing uncovered a known EXOSC3 mutation p.(D132A) as the underlying cause. In patient fibroblasts, a large portion of the EXOSC3 protein was trapped in the cytosol...
July 4, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28675887/prenatal-imaging-findings-of-pontine-tegmental-cap-dysplasia-report-of-four-cases
#4
Eléonore Blondiaux, Stéphanie Valence, Stéphanie Friszer, Diana Rodriguez, Lydie Burglen, Hubert Ducou le Pointe, Marie Blouet, Catherine Garel
OBJECTIVES: To describe the prenatal imaging findings in pontine tegmental cap dysplasia (PTCD), a rare congenital malformation of the hindbrain so far reported postnatally only and characterized by a typical appearance of the pons with malformations of the vermis and the cerebellar peduncles. METHODS: This retrospective multicenter study retrieved 4 cases of PTCD over a 10-year period. Prenatal ultrasonography and fetal magnetic resonance imaging (MRI) findings were reviewed and compared to postnatal or postmortem data...
July 5, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28653766/extension-of-the-phenotype-of-biallelic-loss-of-function-mutations-in-slc25a46-to-the-severe-form-of-pontocerebellar-hypoplasia-type-i
#5
M C Braunisch, H Gallwitz, A Abicht, I Diebold, E Holinski-Feder, L Van Maldergem, M Lammens, R Kovács-Nagy, B Alhaddad, T M Strom, T Meitinger, J Senderek, S Rudnik-Schöneborn, T B Haack
Biallelic mutations in SLC25A46, encoding a modified solute transporter involved in mitochondrial dynamics, have been identified in a wide range of conditions such as hereditary motor and sensory neuropathy with optic atrophy type VIB (OMIM: *610826) and congenital lethal pontocerebellar hypoplasia (PCH). To date, 18 patients from 13 families have been reported, presenting with the key clinical features of optic atrophy, peripheral neuropathy, and cerebellar atrophy. The course of the disease was highly variable ranging from severe muscular hypotonia at birth and early death to first manifestations in late childhood and survival into the fifties...
June 27, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28638259/global-alert-zika-virus-an-emerging-arbovirus
#6
REVIEW
Zulal Ozkurt, Esra Cinar Tanriverdi
Zika virus (ZIKV) is an arbovirus of the Flavivirus genus, and it has an envelope and a single RNA molecule. In early 2016, the World Health Organization declared ZIKV infection to be an emerging global health threat. The major transmission route of the virus to humans is Aedes mosquitoes. ZIKV can be transmitted between humans by transplacental, perinatal, and sexual routes and via blood and body fluids. ZIKV infection usually results in a mild and self-limiting disease with low-grade fever, conjunctivitis, and periorbital edema...
June 2017: Eurasian Journal of Medicine
https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#7
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28630251/valnoctamide-inhibits-cytomegalovirus-infection-in-developing-brain-and-attenuates-neurobehavioral-dysfunctions-and-brain-abnormalities
#8
Sara Ornaghi, Lawrence S Hsieh, Angélique Bordey, Patrizia Vergani, Michael J Paidas, Anthony N van den Pol
Cytomegalovirus (CMV) is the most common infectious cause of brain defects and neurological dysfunction in developing human babies. Due to the teratogenicity and toxicity of available CMV antiviral agents, treatment options during early development are markedly limited. Valnoctamide (VCD), a neuroactive mood stabilizer with no known teratogenic activity, was recently demonstrated to have anti-CMV potential. However, it is not known whether this can be translated into an efficacious therapeutic effect to improve CMV-induced adverse neurological outcomes...
July 19, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28626412/congenital-bilateral-c2-transverse-foramina-stenosis-causing-adult-onset-vertebrobasilar-insufficiency-and-posterior-circulation-stroke
#9
Ajeet Gordhan, Catherine Lockhart
Vertebrobasilar insufficiency leading to posterior circulation infarcts caused by congenital hypoplasia of the bilateral transverse foramina at the C2 level, affecting the caliber and flow of the bilateral distal cervical vertebral arteries in an adult, has not been previously reported. A 41-year-old male presented with episodic dizziness for a period of 1 year prior to consultation. Computed tomography angiography of the head and neck demonstrated congenital hypoplasia of the bilateral C2 transverse foramina, with absence of the vertebral arteries in each of the foramina and collateral reconstitution of diminutive intracranial vertebral artery segments...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28612953/eye-movements-sensori-motor-adaptation-and-cerebellar-dependent-learning-in-autism-towards-potential-biomarkers-and-sub-phenotypes
#10
Edward G Freedman, John J Foxe
Because of the wide range of symptoms expressed in individuals with Autism Spectrum Disorder (ASD) and their idiosyncratic severity it is unlikely that a single remedial approach will be universally effective. Resolution of this dilemma requires identifying subgroups within the autism spectrum, based on symptom set and severity, on an underlying neuro-structural difference, and on specific behavioral dysfunction. This will provide critical insight into the disorder and may lead to better diagnoses, and more targeted remediation in these subphenotypes of people with ASD...
June 14, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28589944/cerebellar-hypoplasia-with-endosteal-sclerosis-is-a-polr3-related-disorder
#11
Jamal Ghoumid, Florence Petit, Odile Boute-Benejean, Frédéric Frenois, Maryse Cartigny, Clémence Vanlerberghe, Thomas Smol, Roseline Caumes, Nicolas de Roux, Sylvie Manouvrier-Hanu
CHES (cerebellar hypoplasia with endosteal sclerosis) syndrome (OMIM#213002) associates hypomyelination, cerebellar atrophy, hypogonadism and hypodontia. So far, only five patients have been described. The condition is of neonatal onset. Patients have severe psychomotor delay and moderate to severe intellectual disability. Inheritance is assumed to be autosomal recessive due to recurrence in sibs, consanguinity of parents and absence of vertical transmission. CHES syndrome is reminiscent of 4H-leukodystrophy, a recessive-inherited affection due to variations in genes encoding subunits of the RNA polymerase III (POLR3A-POLR3B-POLR1C)...
August 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28585670/association-of-two-primitive-carotid-basilar-anastomoses-and-cerebrovascular-abnormalities-on-the-brain-base-a-case-report
#12
Milena TRANDAFİLOVİć, Ljiljana VASOVİć, Slobodan VLAJKOVİć, Marija DAKOVİć-BJELAKOVİć
Simultaneous presence of the persistent primitive trigeminal artery and so-called intermediate communicating artery in a 77-years-old cadaver autopsied due to the myocardial infarction was discovered. Many vascular variants and abnormalities such as an aplasia of the right vertebral artery (VA), a presence of two right posterior cerebral arteries (PCAs), partial duplication of the right superior cerebellar artery, hypoplasia of the pre-communicating part (A1) of the right anterior cerebral artery and the right PCA of basilar origin, a special configuration of the anterior communicating artery (ACoA), and a small aneurysm at the right A1-ACoA junction were associated...
April 27, 2017: Turkish Neurosurgery
https://www.readbyqxmd.com/read/28581210/reduced-cell-surface-levels-of-gpi-linked-markers-in-a-new-case-with-pigg-loss-of-function
#13
Jin James Zhao, Jonatan Halvardson, Alexej Knaus, Patrik Georgii-Hemming, Peter Baeck, Peter Krawitz, Ann-Charlotte Thuresson, Lars Feuk
Glycosylphosphatidylinositol (GPI) is a glycolipid that tethers more than 150 different proteins to the cell surface. Aberrations in biosynthesis of GPI anchors cause congenital disorders of glycosylation with clinical features including intellectual disability, seizures and facial dysmorphism. Here we present two siblings with intellectual disability, cerebellar hypoplasia, cerebellar ataxia, early onset seizures and minor facial dysmorphology. Using exome sequencing, we identified a homozygous nonsense variant (NM_001127178...
June 5, 2017: Human Mutation
https://www.readbyqxmd.com/read/28549128/atad3-gene-cluster-deletions-cause-cerebellar-dysfunction-associated-with-altered-mitochondrial-dna-and-cholesterol-metabolism
#14
Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice L R Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne M Turner, P Ian Andrews, Jan Smeitink, Johannes N Spelbrink, Simon J Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian J Holt, David R Thorburn, Antonella Spinazzola
Although mitochondrial disorders are clinically heterogeneous, they frequently involve the central nervous system and are among the most common neurogenetic disorders. Identifying the causal genes has benefited enormously from advances in high-throughput sequencing technologies; however, once the defect is known, researchers face the challenge of deciphering the underlying disease mechanism. Here we characterize large biallelic deletions in the region encoding the ATAD3C, ATAD3B and ATAD3A genes. Although high homology complicates genomic analysis of the ATAD3 defects, they can be identified by targeted analysis of standard single nucleotide polymorphism array and whole exome sequencing data...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28527815/neuroimaging-and-neuropathological-characteristics-of-cerebellar-injury-in-extremely-low-birth-weight-infants
#15
Mayumi Matsufuji, Nozomi Sano, Hisashi Tsuru, Sachio Takashima
OBJECTIVE: To determine the morphological characteristics and pathogenic factors of cerebellar injury in extremely low birth weight infants (ELBWI). SUBJECTS AND METHODS: Neuroimaging examination was performed on 17 eligible surviving ELBWI. Their MR images were assessed and classified its pattern of cerebellar injuries. Brain pathology was examined on 15 patients, who isolated this neuroimaging subjects. The trend of brain pathologies was revealed. RESULTS: Four types of morphological pattern were recognized: (i) the absence of major portions in the cerebellum (6/17 cases); (ii) focal cerebellar tissue loss (2/17); (iii) unilateral cerebellar atrophy/hypoplasia (3/17); (iv) small cerebellum with entrapped fourth ventricle (6/17)...
May 17, 2017: Brain & Development
https://www.readbyqxmd.com/read/28523762/a-retrospective-study-of-cytogenetic-results-from-amniotic-fluid-in-5328-fetuses-with-abnormal-obstetric-sonographic-findings
#16
Shuo Zhang, Caixia Lei, Junping Wu, Haiyan Sun, Yuezhou Yang, Yueping Zhang, Xiaoxi Sun
OBJECTIVES: The purpose of this study was to evaluate the diagnostic utility of karyotype analysis of amniotic fluid for fetuses with abnormal sonographic findings and to determine the detection rates of abnormal karyotypes. METHODS: We conducted a retrospective study of 5328 fetuses with abnormal sonographic findings in the first or second trimester enrolled from October 1998 and September 2015. Cytogenetic results from amniotic fluid were obtained in all of these pregnancies...
May 19, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28507545/clinical-and-molecular-heterogeneity-of-rtel1-deficiency
#17
Carsten Speckmann, Sushree Sangita Sahoo, Marta Rizzi, Shinsuke Hirabayashi, Axel Karow, Nina Kathrin Serwas, Marc Hoemberg, Natalja Damatova, Detlev Schindler, Jean-Baptiste Vannier, Simon J Boulton, Ulrich Pannicke, Gudrun Göhring, Kathrin Thomay, J J Verdu-Amoros, Holger Hauch, Wilhelm Woessmann, Gabriele Escherich, Eckart Laack, Liliana Rindle, Maximilian Seidl, Anne Rensing-Ehl, Ekkehart Lausch, Christine Jandrasits, Brigitte Strahm, Klaus Schwarz, Stephan R Ehl, Charlotte Niemeyer, Kaan Boztug, Marcin W Wlodarski
Typical features of dyskeratosis congenita (DC) resulting from excessive telomere shortening include bone marrow failure (BMF), mucosal fragility, and pulmonary or liver fibrosis. In more severe cases, immune deficiency and recurring infections can add to disease severity. RTEL1 deficiency has recently been described as a major genetic etiology, but the molecular basis and clinical consequences of RTEL1-associated DC are incompletely characterized. We report our observations in a cohort of six patients: five with novel biallelic RTEL1 mutations p...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28488678/a-missense-variant-in-itpr1-provides-evidence-for-autosomal-recessive-sca29-with-asymptomatic-cerebellar-hypoplasia-in-carriers
#18
Joakim Klar, Zafar Ali, Muhammad Farooq, Kamal Khan, Johan Wikström, Maria Iqbal, Shumaila Zulfiqar, Sanam Faryal, Shahid Mahmood Baig, Niklas Dahl
Spinocerebellar ataxias (SCA) comprise a heterogeneous group of inherited neurological disorders characterized by a range of symptoms from both cerebellar and extra cerebellar structures. We investigated the cause of autosomal recessive, congenital SCA in six affected family members from a large consanguineous family. Using whole-exome sequencing, we identified a homozygous ITPR1 missense variant [c.5360T>C; p.(L1787P)] segregating in all affected individuals. Heterozygous carriers were asymptomatic despite cerebellar hypoplasia...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28467418/a-kcnc3-mutation-causes-a-neurodevelopmental-non-progressive-sca13-subtype-associated-with-dominant-negative-effects-and-aberrant-egfr-trafficking
#19
Swati Khare, Jerelyn A Nick, Yalan Zhang, Kira Galeano, Brittany Butler, Habibeh Khoshbouei, Sruti Rayaprolu, Tyisha Hathorn, Laura P W Ranum, Lisa Smithson, Todd E Golde, Martin Paucar, Richard Morse, Michael Raff, Julie Simon, Magnus Nordenskjöld, Karin Wirdefeldt, Diego E Rincon-Limas, Jada Lewis, Leonard K Kaczmarek, Pedro Fernandez-Funez, Harry S Nick, Michael F Waters
The autosomal dominant spinocerebellar ataxias (SCAs) are a diverse group of neurological disorders anchored by the phenotypes of motor incoordination and cerebellar atrophy. Disease heterogeneity is appreciated through varying comorbidities: dysarthria, dysphagia, oculomotor and/or retinal abnormalities, motor neuron pathology, epilepsy, cognitive impairment, autonomic dysfunction, and psychiatric manifestations. Our study focuses on SCA13, which is caused by several allelic variants in the voltage-gated potassium channel KCNC3 (Kv3...
2017: PloS One
https://www.readbyqxmd.com/read/28450263/wls-expression-in-the-rhombic-lip-orchestrates-the-embryonic-development-of-the-mouse-cerebellum
#20
Joanna Yeung, Daniel Goldowitz
Wntless (Wls) is implicated in the Wnt signaling pathway by regulating the secretion of Wnt molecules. During brain development, Wls is expressed in the isthmic organizer (ISO) and rhombic lip (RL). Wls regulates Wnt1 secretion at the ISO which is required to induce midbrain-hindbrain structures. However, Wls function in the RL is not known. Here, we employed Nestin-cre to delete Wls specifically in the RL during mid-gestation. The loss-of-Wls leads to an abnormal RL during development and cerebellar vermis hypoplasia at birth...
April 24, 2017: Neuroscience
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