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Exhaustive Analysis of BH4 and Dopamine Biosynthesis Genes in Patients with Dopa-Responsive Dystonia
Peer reviewed
Direct linkClot, Fabienne; Grabli, David; Cazeneuve, Cecile; Roze, Emmanuel; Castelnau, Pierre; Chabrol, Brigitte; Landrieu, Pierre; Nguyen, Karine; Ponsot, Gerard; Abada, Myriem; Doummar, Diane; Damier, Philippe; Gil, Roger; Thobois, Stephane; Ward, Alana J.; Hutchinson, Michael; Toutain, Annick; Picard, Fabienne; Camuzat, Agnes; Fedirko, Estelle; San, Chankannira; Bouteiller, Delphine; LeGuern, Eric; Durr, Alexandra; Vidailhet, Marie; Brice, Alexis – Brain, 2009
Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of L-Dopa. Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the "GCH1" gene (GTP cyclohydrolase1) and more rarely by autosomal recessive mutations in the "TH" (tyrosine hydroxylase) or "SPR" (sepiapterin…
Descriptors: Patients, Drug Therapy, Genetic Disorders, Neurological Impairments
Lindahl, Mats Gunnar – Science & Education, 2009
To make meaning of scientific knowledge in such a way that concepts and values of the life-world are not threatened is difficult for students and laymen. Ethics and morals pertaining to the use of genetic tests for hereditary diseases have been investigated and discussed by educators, anthropologists, medical doctors and philosophers giving, at…
Descriptors: Ethics, Moral Values, Genetics, Testing
Thomas, Jacob – ProQuest LLC, 2009
Acyl carrier protein (ACP) is a small essential protein that functions as a carrier of the acyl intermediates of fatty acid synthesis. ACP requires the posttranslational attachment of a 4'phosphopantetheine functional group, derived from CoA, in order to perform its metabolic function. A Mn[superscript 2+] dependent enzymatic activity that removes…
Descriptors: Microbiology, Biochemistry, Genetics
Vaccarino, Flora M.; Grigorenko, Elena L.; Smith, Karen Muller; Stevens, Hanna E. – Journal of Autism and Developmental Disorders, 2009
Increased brain size is common in children with autism spectrum disorders. Here we propose that an increased number of cortical excitatory neurons may underlie the increased brain volume, minicolumn pathology and excessive network excitability, leading to sensory hyper-reactivity and seizures, which are often found in autism. We suggest that…
Descriptors: Autism, Brain, Genetics
Leggett, Victoria; Jacobs, Patricia; Nation, Kate; Scerif, Gaia; Bishop, Dorothy V. M. – Developmental Medicine & Child Neurology, 2010
Aim: To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs). Method: A bibliographic search identified English-language articles on SCTs. The focus was on studies unbiased by clinical referral, with power of at least 0.69 to detect an effect size of 1.0. Results: We identified 35…
Descriptors: Intelligence Quotient, Genetics, Referral, Neonates
Download full textVerkade, Heather; Lim, Saw Hoon – Journal of the Scholarship of Teaching and Learning, 2015
Optional (non-assessed) learning activities are a learning tool that may help students achieve their desired grade, or help students with lower levels of previous experience in the topic. This study examines the implementation of, and outcomes from, two optional activities, one online and one paper-based. The activities complemented the lectures…
Descriptors: Science Instruction, Teaching Methods, Biomedicine, Learning Activities
Oerlemans, Anoek M.; Hartman, Catharina A.; Bruijn, Yvette G. E.; Franke, Barbara; Buitelaar, Jan K.; Rommelse, Nanda N. J. – Journal of Child Psychology and Psychiatry, 2015
Background: We may improve our understanding of the role of common versus unique risk factors in attention-deficit/hyperactivity disorder (ADHD) by examining ADHD-related cognitive deficits in single- (SPX), and multi-incidence (MPX) families. Given that individuals from multiplex (MPX) families are likely to share genetic vulnerability for the…
Descriptors: Incidence, Attention Deficit Hyperactivity Disorder, Role, Neurological Impairments
Frolli, A.; Piscopo, S.; Conson, M. – Journal of Intellectual Disability Research, 2015
Background: Individuals with fragile-X syndrome exhibit developmental delay, hyperexcitation and social anxiety; they also show lack of attention and hyperactivity. Few studies have investigated whether levels of functioning change with increasing age. Here, we explored developmental changes across adolescence in the cognitive and behavioural…
Descriptors: Adolescents, Genetic Disorders, Developmental Delays, Anxiety
Mthethwa-Kunene, Eunice; Onwu, Gilbert Oke; de Villiers, Rian – International Journal of Science Education, 2015
This study explored the pedagogical content knowledge (PCK) and its development of four experienced biology teachers in the context of teaching school genetics. PCK was defined in terms of teacher content knowledge, pedagogical knowledge and knowledge of students' preconceptions and learning difficulties. Data sources of teacher knowledge base…
Descriptors: Science Teachers, Biology, Pedagogical Content Knowledge, Genetics
Al Darwish, Salwa – International Education Studies, 2016
The purpose of this research study is to determine the level of influence of parental education, social and financial status on their senior college students by encouraging them to pursue higher degrees. The sample of the study was 313 senior college students randomly selected from private and public universities in Kuwait to answer the…
Descriptors: Higher Education, Universities, Foreign Countries, Socioeconomic Influences
Bruce, Susan M.; Zatta, Mary C.; Gavin, Mary; Stelzer, Sharon – Journal of Visual Impairment & Blindness, 2016
Introduction: Deafblindness limits access to social cues and social feedback, thus restricting the development of social skills. Many children with CHARGE syndrome, a leading cause of deafblindness, experience challenges with emotional self-regulation and anxiety that may interfere with socialization. Learning about self-determination skills such…
Descriptors: Socialization, Self Determination, Deaf Blind, Interpersonal Competence
Levitan, David; Saada-Madar, Ravit; Teplinsky, Anastasiya; Susswein, Abraham J. – Learning & Memory, 2012
Training paradigms affecting "Aplysia" withdrawal reflexes cause changes in gene expression leading to long-term memory formation in primary mechanoafferents that initiate withdrawal. Similar mechanoafferents are also found in the buccal ganglia that control feeding behavior, raising the possibility that these mechanoafferents are a locus of…
Descriptors: Genetics, Long Term Memory, Brain Hemisphere Functions, Molecular Structure
Morsink, M. C.; Dekter, H. E.; Dirks-Mulder, A.; van Leeuwen, W. B. – Biochemistry and Molecular Biology Education, 2012
In the current laboratory assignment, technical aspects of the polymerase chain reaction (PCR) are integrated in the context of six different bacterial outbreak scenarios. The "Enterobacterial Repetitive Intergenic Consensus Sequence" (ERIC) PCR was used to analyze different outbreak scenarios. First, groups of 2-4 students determined optimal…
Descriptors: Risk, Genetics, Curriculum Development, Communicable Diseases
Valls, Cristina; Rojas, Cristina; Pujadas, Gerard; Garcia-Vallve, Santi; Mulero, Miquel – Biochemistry and Molecular Biology Education, 2012
This article presents two integrated laboratory exercises intended to show students the role of [alpha]-amylases (AAMYs) in saliva and detergents. These laboratory practicals are based on the determination of the enzymatic activity of amylase from saliva and different detergents using the Phadebas test (quantitative) and the Lugol test…
Descriptors: Advanced Students, Undergraduate Study, Genetics, Biochemistry
Smith, Leann E.; Seltzer, Marsha Mailick; Greenberg, Jan S. – Journal of Autism and Developmental Disorders, 2012
Health symptoms of mothers of adolescents and adults with fragile X syndrome (FXS; n = 112) were compared to a nationally-representative sample of mothers of similarly-aged children without disabilities (n = 230) as well as to a sample of mothers of adolescents and adults with autism spectrum disorders (ASD; n = 96). Health symptoms experienced in…
Descriptors: Symptoms (Individual Disorders), Comparative Analysis, Children, Diaries
