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https://www.readbyqxmd.com/read/28088536/targeting-sonic-hedgehog-signaling-in-neurological-disorders
#1
REVIEW
Sita Sharan Patel, Sunil Tomar, Diksha Sharma, Neeraj Mahindroo, Malairaman Udayabanu
Sonic hedgehog (Shh) signaling influences neurogenesis and neural patterning during the development of central nervous system. Dysregulation of Shh signaling in brain leads to neurological disorders like autism spectrum disorder, depression, dementia, stroke, Parkinson's diseases, Huntington's disease, locomotor deficit, epilepsy, demyelinating disease, neuropathies as well as brain tumors. The synthesis, processing and transport of Shh ligand as well as the localization of its receptors and signal transduction in the central nervous system has been carefully reviewed...
January 11, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#2
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28074354/parent-reported-developmental-regression-in-autism-epilepsy-iq-schizophrenia-spectrum-symptoms-and-special-education
#3
Kenneth D Gadow, Greg Perlman, Rebecca J Weber
Examined the psychiatric and clinical correlates of loss of previously acquired skills (regression) as reported by parents of youth with autism spectrum disorder (ASD). Study sample comprised 6- to 18-year old (N = 213) children and adolescents with ASD. Parents reported regression in 77 (36%) youth. A more homogeneous subgroup with regression between 18 and 36 months (n = 48) had higher rates of intellectual disability, epilepsy, and special education, more socially restrictive educational settings, and more severe ASD communication deficits and schizophrenia spectrum symptoms than non-regressed youth (n = 136)...
January 10, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28065824/variable-white-matter-atrophy-and-intellectual-development-in-a-family-with-x-linked-creatine-transporter-deficiency-despite-genotypic-homogeneity
#4
Nicole Heussinger, Marc Saake, Angelika Mennecke, Helmuth-Günther Dörr, Regina Trollmann
BACKGROUND: The X-linked creatine transporter deficiency (CRTD) caused by an SLC6A8 mutation represents the second most common cause of X-linked intellectual disability. The clinical phenotype ranges from mild to severe intellectual disability, epilepsy, short stature, poor language skills, and autism spectrum disorders. The objective of this study was to investigate phenotypic variability in the context of genotype, cerebral creatine concentration, and volumetric analysis in a family with CRTD...
October 17, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28053551/genetics-of-tuberous-sclerosis-complex-implications-for-clinical-practice
#5
REVIEW
Carolina Caban, Nubaira Khan, Daphne M Hasbani, Peter B Crino
Tuberous sclerosis complex (TSC) is a multisystem disorder that results from heterozygous mutations in either TSC1 or TSC2. The primary organ systems that are affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. Neurological features include epilepsy, autism, and intellectual disability. There are more than 1,500 known pathogenic variants for TSC1 and TSC2, including deletion, nonsense, and missense mutations, and all pathogenic mutations are inactivating, leading to loss of function effects on the encoded proteins TSC1 and TSC2...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/28051218/parental-satisfaction-of-an-assessment-unit-for-autistic-spectrum-disorders
#6
Arwa Ben Amor, Soumeyya Halayem, Maissa Touati, Ahlem Belhadj, Riadh Gouider, Ridha Mrad, Asma Bouden
Background - Based on the recognized principles of assessment of autistic disorders, the child and adolescent psychiatry department in Razi Hospital developed an assessment unit with diagnostic as well as therapeutic roles. The aim of this work was to examine its functioning and to analyze the parents' perceptions about the unit services. Methods - We gathered the parental satisfaction about the unit by the means of a hetero-questionnaire. Results - Fifty-two parents of children evaluated within the unit were included...
June 2016: La Tunisie Médicale
https://www.readbyqxmd.com/read/28051072/novel-homozygous-missense-variant-of-grin1-in-two-sibs-with-intellectual-disability-and-autistic-features-without-epilepsy
#7
Massimiliano Rossi, Nicolas Chatron, Audrey Labalme, Dorothée Ville, Maryline Carneiro, Patrick Edery, Vincent des Portes, Johannes R Lemke, Damien Sanlaville, Gaetan Lesca
We report on two consanguineous sibs affected with severe intellectual disability and autistic features due to a homozygous missense variant of GRIN1. Massive parallel sequencing was performed using a gene panel including 450 genes related to intellectual disability and autism spectrum disorders. We found a homozygous missense variation of GRIN1 (c.679G>C; p.(Asp227His)) in the two affected sibs, which was inherited from both unaffected heterozygous parents. Heterozygous variants of GRIN1, encoding the GluN1 subunit of the NMDA receptor, have been reported in patients with neurodevelopmental disorders including epileptic encephalopathy, severe intellectual disability, and movement disorders...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28045139/chrna7-deficient-mice-manifest-no-consistent-neuropsychiatric-and-behavioral-phenotypes
#8
Jiani Yin, Wu Chen, Hongxing Yang, Mingshan Xue, Christian P Schaaf
The alpha7 nicotinic acetylcholine receptor, encoded by the CHRNA7 gene, has been implicated in various psychiatric and behavioral disorders, including schizophrenia, bipolar disorder, epilepsy, autism, Alzheimer's disease, and Parkinson's disease, and is considered a potential target for therapeutic intervention. 15q13.3 microdeletion syndrome is a rare genetic disorder, caused by submicroscopic deletions on chromosome 15q. CHRNA7 is the only gene in this locus that has been deleted entirely in cases involving the smallest microdeletions...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28025777/brain-development-and-akt-signaling-the-crossroads-of-signaling-pathway-and-neurodevelopmental-diseases
#9
REVIEW
Long Wang, Kai Zhou, Zhi Fu, Di Yu, Hesuyuan Huang, Xiaodong Zang, Xuming Mo
Neurodevelopmental biology, coupled with the application of advanced histological, imaging, molecular, cellular, biochemical, and genetic approaches, has provided new insights into these intricate genetic, cellular, and molecular events. During telencephalic development, specific neural progenitor cells (NPCs) proliferate, differentiate into numerous cell types, migrate to their apposite positions, and form an integrated circuitry. Critical disturbance to this dynamic process via genetic and environmental risk can cause neurological disorders and disability...
December 26, 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28025400/author-response-autism-and-epilepsy-a-population-based-nationwide-cohort-study
#10
Heléne E K Sundelin, Jonas F Ludvigsson
No abstract text is available yet for this article.
January 3, 2017: Neurology
https://www.readbyqxmd.com/read/28025399/letter-re-autism-and-epilepsy-a-population-based-nationwide-cohort-study
#11
Nitin K Sethi
No abstract text is available yet for this article.
January 3, 2017: Neurology
https://www.readbyqxmd.com/read/28009282/beyond-epilepsy-and-autism-disruption-of-gabrb3-causes-ocular-hypopigmentation
#12
Ryan J Delahanty, Yanfeng Zhang, Terry Jo Bichell, Wangzhen Shen, Kelienne Verdier, Robert L Macdonald, Lili Xu, Kelli Boyd, Janice Williams, Jing-Qiong Kang
Reduced ocular pigmentation is common in Angelman syndrome (AS) and Prader-Willi syndrome (PWS) and is long thought to be caused by OCA2 deletion. GABRB3 is located in the 15q11-13 region flanked by UBE3A, GABRA5, GABRG3, and OCA2. Mutations in GABRB3 have frequently been associated with epilepsy and autism, consistent with its role in neurodevelopment. We report here a robust phenotype in the mouse in which deletion of Gabrb3 alone causes nearly complete loss of retinal pigmentation due to atrophied melanosomes, as evidenced by electron microscopy...
December 20, 2016: Cell Reports
https://www.readbyqxmd.com/read/28008202/investigation-of-single-nucleotide-variants-in-mbd5-associated-with-autism-spectrum-disorders-and-schizophrenia-phenotypes
#13
Kanako Ishizuka, Hiroki Kimura, Akira Yoshimi, Masahiro Banno, Itaru Kushima, Yota Uno, Takashi Okada, Daisuke Mori, Branko Aleksic, Norio Ozaki
MBD5 (Methyl-CpG-binding domain 5) is a critical gene for normal development. While deletion or duplication of MBD5 may contribute to a genetic predisposition to autism spectrum disorders (ASD), intellectual disability, or epilepsy, the impact of rare MBD5 single nucleotide variants (SNVs) on neurodevelopmental features, particularly features with late onset, has not been fully explored. In this study, we conducted exon-targeted resequencing of MBD5 with next-generation sequencing technology in 562 Japanese patients (192 with idiopathic ASD and 370 with schizophrenia (SCZ)) and detected 16 MBD5 SNVs with allele frequencies of ≤1%...
December 2016: Nagoya Journal of Medical Science
https://www.readbyqxmd.com/read/28004629/manifestations-of-tuberous-sclerosis-complex-the-experience-of-a-provincial-clinic
#14
Colin Wilbur, Chinnuwat Sanguansermsri, Hedi Chable, Mihaela Anghelina, Sharon Peinhof, Kelly Anderson, Paul Steinbok, Ash Singhal, Anita Datta, Mary B Connolly
BACKGROUND: Tuberous sclerosis complex (TSC) is a neurocutaneous disorder with a wide spectrum of manifestations. Recent consensus recommendations stress the importance of multidisciplinary management of children with TSC. The objective of this study was to examine the manifestations of TSC at a large referral centre to determine the care needs of this population. METHODS: A retrospective, systematic chart review was performed of children with TSC managed at British Columbia Children's Hospital...
January 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/27995975/rna-activation-of-haploinsufficient-foxg1-gene-in-murine-neocortex
#15
Cristina Fimiani, Elisa Goina, Qin Su, Guangping Gao, Antonello Mallamaci
More than one hundred distinct gene hemizygosities are specifically linked to epilepsy, mental retardation, autism, schizophrenia and neuro-degeneration. Radical repair of these gene deficits via genome engineering is hardly feasible. The same applies to therapeutic stimulation of the spared allele by artificial transactivators. Small activating RNAs (saRNAs) offer an alternative, appealing approach. As a proof-of-principle, here we tested this approach on the Rett syndrome-linked, haploinsufficient, Foxg1 brain patterning gene...
December 20, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27984183/repeated-prenatal-exposure-to-valproic-acid-results-in-cerebellar-hypoplasia-and-ataxia
#16
Stacey L Main, Randy J Kulesza
Autism spectrum disorder (ASD) is a developmental brain disorder characterized by restricted and repetitive patterns of behavior, social and communication defects, and is commonly associated with difficulties with motor coordination. The etiology of ASD, while mostly idiopathic, has been linked to hereditary factors and teratogens, such as valproic acid (VPA). VPA is used clinically to treat epilepsy, mood disorders, and in the prevention of migraines. The use of VPA during pregnancy significantly increases the risk of ASD in the offspring...
October 27, 2016: Neuroscience
https://www.readbyqxmd.com/read/27983615/peripheral-inflammatory-markers-contributing-to-comorbidities-in-autism
#17
Martha Cecilia Inga Jácome, Lilia Maria Morales Chacòn, Hector Vera Cuesta, Carlos Maragoto Rizo, Mabel Whilby Santiesteban, Lesyanis Ramos Hernandez, Elena Noris García, Maria Elena González Fraguela, Caridad Ivette Fernandez Verdecia, Yamilé Vegas Hurtado, Dario Siniscalco, Carlos Alberto Gonçalves, Maria de Los Angeles Robinson-Agramonte
This study evaluates the contribution of peripheral biomarkers to comorbidities and clinical findings in autism. Seventeen autistic children and age-matched typically developing (AMTD), between three to nine years old were evaluated. The diagnostic followed the Diagnostic and Statistical Manual of Mental Disorders 4th Edition (DMS-IV) and the Childhood Autism Rating Scale (CARS) was applied to classify the severity. Cytokine profile was evaluated in plasma using a sandwich type ELISA. Paraclinical events included electroencephalography (EEG) record...
December 14, 2016: Behavioral Sciences
https://www.readbyqxmd.com/read/27932026/gene-environment-interactions-in-cortical-interneuron-development-and-dysfunction-a-review-of-preclinical-studies
#18
REVIEW
Lydia J Ansen-Wilson, Robert J Lipinski
Cortical interneurons (cINs) are a diverse group of locally projecting neurons essential to the organization and regulation of neural networks. Though they comprise only ∼20% of neurons in the neocortex, their dynamic modulation of cortical activity is requisite for normal cognition and underlies multiple aspects of learning and memory. While displaying significant morphological, molecular, and electrophysiological variability, cINs collectively function to maintain the excitatory-inhibitory balance in the cortex by dampening hyperexcitability and synchronizing activity of projection neurons, primarily through use of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA)...
December 5, 2016: Neurotoxicology
https://www.readbyqxmd.com/read/27917314/pentylenetetrazole-induced-seizures-in-developing-rats-prenatally-exposed-to-valproic-acid
#19
Angel A Puig-Lagunes, Jorge Manzo, Luis Beltrán-Parrazal, Consuelo Morgado-Valle, Rebeca Toledo-Cárdenas, Maria-Leonor López-Meraz
BACKGROUND: Epidemiological evidence indicates epilepsy is more common in patients with autism spectrum disorders (ASD) (20-25%) than in the general population. The aim of this project was to analyze seizure susceptibility in developing rats prenatally exposed to valproic acid (VPA) as autism model. METHODS: Pregnant females were injected with VPA during the twelfth embryonic day. Seizures were induced in fourteen-days-old rat pups using two models of convulsions: pentylenetetrazole (PTZ) and lithium-pilocarpine (Li-Pilo)...
2016: PeerJ
https://www.readbyqxmd.com/read/27889489/the-drug-candidate-adx71441-is-a-novel-potent-and-selective-positive-allosteric-modulator-of-the-gabab-receptor-with-a-potential-for-treatment-of-anxiety-pain-and-spasticity
#20
Mikhail Kalinichev, Françoise Girard, Hasnaà Haddouk, Mélanie Rouillier, Eric Riguet, Isabelle Royer-Urios, Vincent Mutel, Robert Lütjens, Sonia Poli
Positive allosteric modulation of the GABAB receptor is a promising alternative to direct activation of the receptor as a therapeutic approach for treatment of addiction, chronic pain, anxiety, epilepsy, autism, Fragile X syndrome, and psychosis. Here we describe in vitro and in vivo characterization of a novel, potent and selective GABAB positive allosteric modulator (PAM) N-(5-(4-(4-chloro-3-fluorobenzyl)-6-methoxy-3,5-dioxo-4,5-dihydro-1,2,4-triazin-2(3H)-yl)-2-fluorophenyl)acetamide (ADX71441). In vitro, Schild plot and reversibility tests at the target confirmed PAM properties of the compound...
March 1, 2017: Neuropharmacology
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