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https://www.readbyqxmd.com/read/28526295/large-scale-exploratory-genetic-analysis-of-cognitive-impairment-in-parkinson-s-disease
#1
Ignacio F Mata, Catherine O Johnson, James B Leverenz, Daniel Weintraub, John Q Trojanowski, Vivianna M Van Deerlin, Beate Ritz, Rebecca Rausch, Stewart A Factor, Cathy Wood-Siverio, Joseph F Quinn, Kathryn A Chung, Amie L Peterson-Hiller, Alberto J Espay, Fredy J Revilla, Johnna Devoto, Dora Yearout, Shu-Ching Hu, Brenna A Cholerton, Thomas J Montine, Karen L Edwards, Cyrus P Zabetian
Cognitive impairment is a common and disabling problem in Parkinson's disease (PD). Identification of genetic variants that influence the presence or severity of cognitive deficits in PD might provide a clearer understanding of the pathophysiology underlying this important nonmotor feature. We genotyped 1105 PD patients from the PD Cognitive Genetics Consortium for 249,336 variants using the NeuroX array. Participants underwent assessments of learning and memory (Hopkins Verbal Learning Test-Revised [HVLT-R]), working memory/executive function (Letter-Number Sequencing and Trail Making Test [TMT] A and B), language processing (semantic and phonemic verbal fluency), visuospatial abilities (Benton Judgment of Line Orientation [JoLO]), and global cognitive function (Montreal Cognitive Assessment)...
April 20, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28500650/aberrant-cognitive-phenotypes-and-altered-hippocampal-bdnf-expression-related-to-epigenetic-modifications-in-mice-lacking-the-post-synaptic-scaffolding-protein-shank1-implications-for-autism-spectrum-disorder
#2
A Özge Sungur, Magdalena C E Jochner, Hani Harb, Ayşe Kılıç, Holger Garn, Rainer K W Schwarting, Markus Wöhr
Autism spectrum disorder (ASD) is a class of neurodevelopmental disorders characterized by persistent deficits in social communication/interaction, together with restricted/repetitive patterns of behavior. ASD is among the most heritable neuropsychiatric conditions, and while available evidence points to a complex set of genetic factors, the SHANK gene family has emerged as one of the most promising candidates. Here, we assessed ASD-related phenotypes with particular emphasis on social behavior and cognition in Shank1 mouse mutants in comparison to heterozygous and wildtype littermate controls across development in both sexes...
May 12, 2017: Hippocampus
https://www.readbyqxmd.com/read/28467426/pkb%C3%AE-akt3-loss-of-function-causes-learning-and-memory-deficits-and-deregulation-of-akt-mtorc2-signaling-relevance-for-schizophrenia
#3
Kristy R Howell, Kirsten Floyd, Amanda J Law
Psychiatric genetic studies have identified genome-wide significant loci for schizophrenia. The AKT3/1q44 locus is a principal risk region and gene-network analyses identify AKT3 polymorphisms as a constituent of several neurobiological pathways relevant to psychiatric risk; the neurobiological mechanisms remain unknown. AKT3 shows prenatal enrichment during human neocortical development and recurrent copy number variations involving the 1q43-44 locus are associated with cortical malformations and intellectual disability, implicating an essential role in early brain development...
2017: PloS One
https://www.readbyqxmd.com/read/28463240/incorrect-dosage-of-iqsec2-a-known-intellectual-disability-and-epilepsy-gene-disrupts-dendritic-spine-morphogenesis
#4
S J Hinze, M R Jackson, S Lie, L Jolly, M Field, S C Barry, R J Harvey, C Shoubridge
There is considerable genetic and phenotypic heterogeneity associated with intellectual disability (ID), specific learning disabilities, attention-deficit hyperactivity disorder, autism and epilepsy. The intelligence quotient (IQ) motif and SEC7 domain containing protein 2 gene (IQSEC2) is located on the X-chromosome and harbors mutations that contribute to non-syndromic ID with and without early-onset seizure phenotypes in both sexes. Although IQ and Sec7 domain mutations lead to partial loss of IQSEC2 enzymatic activity, the in vivo pathogenesis resulting from these mutations is not known...
May 2, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28448720/mosaic-neurofibromatosis-type-1-in-children-a-single-institution-experience
#5
Irene Lara-Corrales, Mitra Moazzami, Maria Teresa García-Romero, Elena Pope, Patricia Parkin, Andrea Shugar, Peter Kannu
BACKGROUND: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings. OBJECTIVES: Our study's objectives were to describe the clinical characteristics of children with MNF. METHODS: We conducted a cross-sectional study of children diagnosed with MNF at the Hospital for Sick Children in Toronto, Canada, from January 1992 to September 2012...
April 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28436202/a-common-genetic-variant-in-foxp2-is-associated-with-language-based-learning-dis-abilities-evidence-from-two-italian-independent-samples
#6
Alessandra Mozzi, Valentina Riva, Diego Forni, Manuela Sironi, Cecilia Marino, Massimo Molteni, Stefania Riva, Franca R Guerini, Mario Clerici, Rachele Cagliani, Sara Mascheretti
Language-based Learning Disabilities (LLDs) encompass a group of complex, comorbid, and developmentally associated deficits in communication. Language impairment and developmental dyslexia (DD) represent the most recognized forms of LLDs. Substantial genetic correlations exist between language and reading (dis)abilities. Common variants in the FOXP2 gene were consistently associated with language- and reading-related neuropsychological and neuroanatomical phenotypes. We tested the effect of a FOXP2 common variant, that is, rs6980093 (A/G), on quantitative measures of language and reading in two independent Italian samples: a population-based cohort of 699 subjects (3-11 years old) and a sample of 572 children with DD (6-18 years old)...
April 24, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28407523/glut1-deficiency-syndrome-report-of-a-four-generation-norwegian-family-with-a-mild-phenotype
#7
Anette Ramm-Pettersen, Karl O Nakken, Kathrine C Haavardsholm, Kaja Kristine Selmer
INTRODUCTION: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare metabolic encephalopathy with a wide variation of clinical phenotypes. Familial variants are often milder than de novo cases, and may therefore remain undiagnosed. The aim of this study was to characterize the clinical course of GLUT1-DS in a four-generation Norwegian family where the oldest generations had never received any treatment. METHOD: Through interviews and clinical investigations, we characterized a family of 26 members, where 11 members had symptoms strongly suggesting GLUT1-DS...
May 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28407409/clinical-and-molecular-characterization-of-a-second-family-with-the-12q14-microdeletion-syndrome-and-review-of-the-literature
#8
Rita Fischetto, Orazio Palumbo, Federica Ortolani, Pietro Palumbo, Maria Pia Leone, Francesco Andrea Causio, Sabino Pesce, Maria Christina Digilio, Massimo Carella, Francesco Papadia
The 12q14 microdeletion syndrome is a rare condition characterized by low birth weight, failure to thrive, short stature, learning disabilities, and osteopoikilosis. To date, 20 cases of 12q14 deletion have been reported in the literature, displaying both phenotypic than genetic variability. We report on three familial cases, a mother and two brothers, with severe short stature. The mother and elder brother presented with osteopoikilosis while the younger brother had severe short stature and developmental delay...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28400977/fragile-x-syndrome-lessons-learned-from-the-most-translated-neurodevelopmental-disorder-in-clinical-trials
#9
Phan Q Duy, Dejan B Budimirovic
Fragile X syndrome (FXS) is the leading genetic cause of autism spectrum disorder (ASD) and inherited intellectual disability (ID) worldwide. Preclinical successes in understanding the biology of FXS have led to numerous translational attempts in human clinical trials of therapeutics that target the excitatory/inhibitory neural signaling imbalances thought to underlie FXS. Despite the preclinical success story, the negative results of the human clinical trials have been deemed to be at least in part disappointing by the field...
January 2017: Translational Neuroscience
https://www.readbyqxmd.com/read/28331219/intragenic-multi-exon-deletion-in-the-fbn1-gene-in-a-child-with-mildly-dilated-aortic-sinus-a-retrotransposal-event
#10
Maggie Brett, George Korovesis, Angeline H M Lai, Eileen C P Lim, Ene-Choo Tan
Marfan syndrome is an autosomal dominant disorder affecting mainly the skeletal, ocular and cardiovascular systems. Most cases are caused by mutations in the fibrillin-1 gene (FBN1), although there are some reports on deletions involving FBN1 and other additional genes. We report a male patient who was first evaluated at 4 years of age. Echocardiogram showed a mildly dilated aortic sinus. He also had a history of muscular ventral septal defect which was closed spontaneously and trivial mitral regurgitation...
March 23, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28327575/analysis-of-exome-data-for-4293-trios-suggests-gpi-anchor-biogenesis-defects-are-a-rare-cause-of-developmental-disorders
#11
Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C Taylor, Usha Kini
Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293 parent-child trios recruited to the Deciphering Developmental Disorders (DDD) study. All probands recruited had a neurodevelopmental disorder...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28306397/public-views-on-genetics-and-genetic-testing-a-survey-of-the-general-public-in-belgium
#12
Davit Chokoshvili, Carmen Belmans, Roxanne Poncelet, Sofie Sanders, Deborah Vaes, Danya Vears, Sandra Janssens, Isabelle Huys, Pascal Borry
AIMS: To explore the views of the Belgian public on various topics surrounding genetics and genetic testing (GT). MATERIALS AND METHODS: A written questionnaire was administered to visitors of the annual cartoon festival in Knokke-Heist, Belgium, during the summer of 2014. The main theme of the festival was challenges and progress in human genetics and it was attended by more than 100,000 visitors. RESULTS: The survey was completed by 1182 respondents, resulting in a demographically diverse sample with a mean age of 48...
March 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28291539/the-role-of-brain-derived-neurotrophic-factor-and-its-single-nucleotide-polymorphisms-in-stroke-patients
#13
REVIEW
Dariusz Kotlęga, Barbara Peda, Agnieszka Zembroń-Łacny, Monika Gołąb-Janowska, Przemysław Nowacki
Stroke is the main cause of motoric and neuropsychological disability in adults. Recent advances in research into the role of the brain-derived neurotrophic factor in neuroplasticity, neuroprotection and neurogenesis might provide important information for the development of new poststroke-rehabilitation strategies. It plays a role as a mediator in motor learning and rehabilitation after stroke. Concentrations of BDNF are lower in acute ischemic-stroke patients compared to controls. Lower levels of BDNF are correlated with an increased risk of stroke, worse functional outcomes and higher mortality...
March 6, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28256686/-neuroplasticity-synaptogenesis-during-normal-development-and-its-implication-in-intellectual-disability
#14
M Martinez-Morga, S Martinez
Neuroplasticity is the biological capacity of the nervous system to modify its structure and functioning to adapt to both physiological and pathological variations in the environment. Its main physiological consequences are learning and memory, and its pathological outcome is neurological rehabilitation. The continuous change and initial fragility of the developing brain make the embryonic and foetal periods especially plastic (what is known as developmental neuroplasticity). The progressive reduction in plasticity, however, is never complete and the capacity to modify the brain circuits in response to new learning (adaptive neuroplasticity) or brain injuries (reactive neuroplasticity) remains throughout the individual's entire lifespan...
February 24, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28256045/two-cases-of-legg-perthes-and-intellectual-disability-in-tricho-rhino-phalangeal-syndrome-type-1-associated-with-novel-trps1-mutations
#15
Jordana L Gilman, Heather A Newman, Rebecca Freeman, Kathryn E Singh, Rebecca L Puckett, David K Morohashi, Constance Stein, Kathryn Palomino, Robert Roger Lebel, Virginia E Kimonis
Tricho-Rhino-Phalangeal syndrome is a rare autosomal dominant genetic disorder caused by mutations in the TRPS1 gene. This malformation syndrome is characterized by distinctive craniofacial features including sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. In this report, we describe two patients with the physical manifestations and genotype of TRPS type I but with learning/intellectual disability not typically described as part of the syndrome...
March 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28229379/a-novel-frameshift-mutation-in-the-sterol-27-hydroxylase-gene-in-an-egyptian-family-with-cerebrotendinous-xanthomatosis-without-cataract
#16
Mohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, Maha S Zaki
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Parents were first cousins with family history of two deceased sibs with mild impaired cognitive functions and epilepsy without appearance of tendon xanthomas...
April 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28176280/stepwise-casr-ap2s1-and-gna11-sequencing-in-patients-with-suspected-familial-hypocalciuric-hypercalcemia
#17
Auryan Szalat, Shoshana Shpitzen, Anat Tsur, Ilana Zalmon Koren, Shmuel Shilo, Liana Tripto-Shkolnik, Ronen Durst, Eran Leitersdorf, Vardiella Meiner
PURPOSE: Patients with familial hyperparathyroidism and low urinary calcium excretion may have familial hypocalciuric hypercalcemia (FHH) with mutations in one of three genes: the calcium-sensing receptor (CaSR) defining FHH-type 1, the adaptor-related protein complex 2 (AP2S1) related to FHH-type 3 or the G-protein subunit alpha11 (GNA11) associated with FHH-type 2. We aimed to evaluate the presence of mutations in these genes and to identify phenotypic specificities and differences in these patients...
February 7, 2017: Endocrine
https://www.readbyqxmd.com/read/28161297/signaling-of-noncomprehension-in-communication-breakdowns-in-fragile-x-syndrome-down-syndrome-and-autism-spectrum-disorder
#18
Gary E Martin, Jamie Barstein, Jane Hornickel, Sara Matherly, Genna Durante, Molly Losh
The ability to indicate a failure to understand a message is a critical pragmatic (social) language skill for managing communication breakdowns and supporting successful communicative exchanges. The current study examined the ability to signal noncomprehension across different types of confusing message conditions in children and adolescents with fragile X syndrome (FXS), Down syndrome (DS), autism spectrum disorder (ASD), and typical development (TD). Controlling for nonverbal mental age and receptive vocabulary skills, youth with comorbid FXS and ASD and those with DS were less likely than TD controls to signal noncomprehension of confusing messages...
January 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28145167/-our-nurse-has-been-an-amazing-advocate-for-our-non-verbal-child
#19
(no author information available yet)
My son Conor is an 11-year-old boy with a rare genetic condition called Cornelia de Lange Syndrome and complex needs. We have encountered many medical and nursing staff on our journey, but learning disability community nurse Lisa Harris, who works for the Western Health and Social Care Trust in Derry, Northern Ireland, stands out.
February 1, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28143899/a-missense-mutation-in-the-crbn-gene-that-segregates-with-intellectual-disability-and-self-mutilating-behaviour-in-a-consanguineous-saudi-family
#20
Atia Sheereen, Manal Alaamery, Shahad Bawazeer, Yusra Al Yafee, Salam Massadeh, Wafaa Eyaid
BACKGROUND: Autosomal-recessive non-syndromic intellectual disability (ARNS-ID) is an aetiologically heterogeneous disorder. Although little is known about the function of human cereblon (CRBN), its relationship to mild cognitive deficits suggests that it is involved in the basic processes of human memory and learning. OBJECTIVES: We aim to identify the genetic cause of intellectual disability and self-mutilation in a consanguineous Saudi family with five affected members...
January 31, 2017: Journal of Medical Genetics
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