Relevant bibliographies by topics / Neurogenetic syndrome

Academic literature on the topic 'Neurogenetic syndrome'

Author: Grafiati
Published: 10 December 2022
Last updated: 28 January 2023

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Contents

Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'Neurogenetic syndrome.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Journal articles on the topic "Neurogenetic syndrome"

1

Harrop, Clare, Aaron R. Dallman, Luc Lecavalier, James W. Bodfish, and Brian A. Boyd. "Behavioral Inflexibility Across Two Neurogenetic Conditions: Down Syndrome and Fragile X Syndrome." American Journal on Intellectual and Developmental Disabilities 126, no. 5 (August 24, 2021): 409–20. http://dx.doi.org/10.1352/1944-7558-126.5.409.

Full text
Abstract:
Abstract Behavioral inflexibility (BI) has been highlighted to occur across genetic and neurodevelopmental disorders. This study characterized BI in two common neurogenetic conditions: Fragile X syndrome (FXS) and Down syndrome (DS). Caregivers of children with FXS (N = 56; with ASD = 28; FXS only = 28) and DS (N = 146) completed the Behavioral Inflexibility Scale (BIS) via an online survey. Total BIS scores were higher in FXS+ASD than both FXS only and DS (p <.001). Most endorsed items were similar across the three groups, but scores were higher in the FXS+ASD group. In all groups, BI associated with other clinical variables (receptive behaviors, anxiety, social communication). The current data suggest that BI is variable across neurogenetic conditions and higher in individuals with comorbid ASD.
APA, Harvard, Vancouver, ISO, and other styles
2

Duis, Jessica. "The Road to Personalized Therapies: Lessons Learned From Angelman Syndrome." American Journal on Intellectual and Developmental Disabilities 127, no. 2 (February 18, 2022): 95–98. http://dx.doi.org/10.1352/1944-7558-127.2.95.

Full text
Abstract:
Abstract Angelman syndrome (AS) is a neurogenetic disorder characterized by delays including a severe expressive language delay, motor concerns, ataxia, epilepsy, sleep disturbances, gastrointestinal problems, and characteristic behaviors, including a happy demeanor, hyperactivity, and excitability. The syndrome is one of the first neurodevelopmental disorders with a clear trajectory towards meaningful treatment with approximately 20 companies actively developing targeted therapeutics for AS. Herein, we highlight the historical context of the road to therapeutics and some of the challenges in the field with the potential to impact the success of clinical trials for Angelman syndrome and also have relevance of other neurogenetic developmental disabilities.
APA, Harvard, Vancouver, ISO, and other styles
3

Coppus, Antonia M. W. "Neurogenetic Syndrome: Behavioral Issues and Their Treatment." Journal of Policy and Practice in Intellectual Disabilities 8, no. 2 (June 2011): 139–40. http://dx.doi.org/10.1111/j.1741-1130.2011.00299.x.

Full text
APA, Harvard, Vancouver, ISO, and other styles
4

Buiting, Karin, Charles Williams, and Bernhard Horsthemke. "Angelman syndrome — insights into a rare neurogenetic disorder." Nature Reviews Neurology 12, no. 10 (September 12, 2016): 584–93. http://dx.doi.org/10.1038/nrneurol.2016.133.

Full text
APA, Harvard, Vancouver, ISO, and other styles
5

Walter, E., P. K. Mazaika, and A. L. Reiss. "Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome." Neuroscience 164, no. 1 (November 2009): 257–71. http://dx.doi.org/10.1016/j.neuroscience.2009.04.033.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

Fussiger, Helena, José Luiz Pedroso, and Jonas Alex Morales Saute. "Diagnostic reasoning in neurogenetics: a general approach." Arquivos de Neuro-Psiquiatria 80, no. 09 (September 2022): 944–52. http://dx.doi.org/10.1055/s-0042-1755275.

Full text
Abstract:
AbstractEstablishing the definitive diagnosis of a neurogenetic disease is usually a complex task. However, like any type of clinical diagnostic reasoning, an organized process of development and consideration of diagnostic hypotheses may guide neurologists and medical geneticists to solve this difficult task. The aim of the present review is to propose a general method for diagnostic reasoning in neurogenetics, with the definition of the main neurological syndrome and its associated topographical diagnosis, followed by the identification of major and secondary neurological syndromes, extraneurological findings, and inheritance pattern. We also discuss general rules and knowledge requirements of the ordering physician to request genetic testing and information on how to interpret genetic variants in a genetic report. By guiding the requests for genetic testing according to an organized model of diagnostic reasoning and with the availability of specific treatments, clinicians may find greater resoluteness and efficacy in the diagnostic investigation, shortening the struggle of patients for a definitive diagnosis.
APA, Harvard, Vancouver, ISO, and other styles
7

Andelman‐Gur, Michal M., Richard J. Leventer, Mohammad Hujirat, Christos Ganos, Keren Yosovich, Nirit Carmi, Dorit Lev, et al. "Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?" American Journal of Medical Genetics Part A 182, no. 10 (August 17, 2020): 2207–13. http://dx.doi.org/10.1002/ajmg.a.61795.

Full text
APA, Harvard, Vancouver, ISO, and other styles
8

Gorchkhanova, Z. K., E. A. Nikolaeva, A. M. Pivovarova, S. V. Bochenkov, and E. D. Belousova. "Difficulties in the differential diagnosis of Angelman’s syndrome." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 67, no. 6 (January 8, 2023): 113–22. http://dx.doi.org/10.21508/1027-4065-2022-67-6-113-122.

Full text
Abstract:
Angelman syndrome is a rare neurogenetic disease caused by the loss of the function of the maternal allele of the UBE3A gene on chromosome 15 (site 15q11.2–q13) and is characterized by severe mental retardation, lack of speech, epilepsy, microcephaly and a characteristic facial phenotype with a unique behavior in the form of frequent laughter. The combination of microcephaly, epilepsy, speechlessness and mental retardation poses a problem for differential diagnosis with many genetic diseases presenting with similar symptoms. Epileptic encephalopathy due to CDKL5 gene mutation and Rett syndrome have the greatest similarity. The hallmark of Angelman syndrome are laughter attacks and specific EEG changes. The authors have presented a table of the differential diagnosis of Angelman syndrome with some phenotypically similar genetic syndromes, indicating the most significant distinguishing features, which should facilitate for the pediatrician and neurologist the diagnostic path of establishing the correct diagnosis.
APA, Harvard, Vancouver, ISO, and other styles
9

Komissarova, O. A., O. A. Milovanova, G. G. Avakyan, and S. V. Bugriy. "Childhood autism associated with neurological manifestations and corpus callosum hypoplasia: literature review and clinical cases." Epilepsy and paroxysmal conditions 12, no. 1 (April 16, 2020): 51–58. http://dx.doi.org/10.17749/2077-8333.2020.12.1.51-58.

Full text
Abstract:
Aim. To consolidate literature data and to demonstrate rare hereditary neurogenetic syndromes with various neuropsychiatric manifestations and a corpus callosum (CC) structurally reduced in size.Material and methods. Full text data from scholarly journals were used for the review. Mental and neurological disorders were studied in two examined patients with neurogenetic syndromes. A brain MRI showed that it was accompanied with CC hypoplasia. We conducted comprehensive analysis of anamnestic data as well as medical genetic, neurological, psychopathological, pathopsychological, laboratory, and instrumental examinations.Results. The presented observations testified to a burdened obstetric history, dysfunctional ante-, intra-, and postnatal periods. The first patient with the Wolf-Hirschhorn syndrome was diagnosed with atypical autism associated with severe mental retardation, lack of verbal means of communication, motor stereotypes, structural focal epilepsy, cerebral palsy (CP), severe systemic speech underdevelopment; the second patient with the Prader-Willi syndrome was diagnosed with organic autism associated with mild mental retardation, impaired social adaptation in combination with stereotyped actions, impaired visual-spatial coordination, and cerebral palsy. In the first case, MRI showed posterior CC hypoplasia; in the second case, MRI showed hypoplasia of the CC isthmus.Conclusion. The level of cognitive deficit was to some extent a value associated with the thickness of the posterior CC. Apparently, a higher degree of myelination of nerve fibers contributes to a higher rate of transmission of nerve impulses along nerve fibers stimulating neurons. The results can be considered preliminary; a larger study is needed.
APA, Harvard, Vancouver, ISO, and other styles
10

Gipson, Tanjala T., and Michael V. Johnston. "Plasticity and mTOR: Towards Restoration of Impaired Synaptic Plasticity in mTOR-Related Neurogenetic Disorders." Neural Plasticity 2012 (2012): 1–10. http://dx.doi.org/10.1155/2012/486402.

Full text
Abstract:
Objective. To review the recent literature on the clinical features, genetic mutations, neurobiology associated with dysregulation of mTOR (mammalian target of rapamycin), and clinical trials for tuberous sclerosis complex (TSC), neurofibromatosis-1 (NF1) and fragile X syndrome (FXS), and phosphatase and tensin homolog hamartoma syndromes (PTHS), which are neurogenetic disorders associated with abnormalities in synaptic plasticity and mTOR signaling.Methods. Pubmed and Clinicaltrials.gov were searched using specific search strategies.Results/Conclusions. Although traditionally thought of as irreversible disorders, significant scientific progress has been made in both humans and preclinical models to understand how pathologic features of these neurogenetic disorders can be reduced or reversed. This paper revealed significant similarities among the conditions. Not only do they share features of impaired synaptic plasticity and dysregulation of mTOR, but they also share clinical features—autism, intellectual disability, cutaneous lesions, and tumors. Although scientific advances towards discovery of effective treatment in some disorders have outpaced others, progress in understanding the signaling pathways that connect the entire group indicates that the lesser known disorders will become treatable as well.
APA, Harvard, Vancouver, ISO, and other styles
More sources

Dissertations / Theses on the topic "Neurogenetic syndrome"

1

Pierre, Constance. "Conséquences fonctionnelles, comportementales et adaptatives d'une mutation de la MAO (MonoAmine Oxydase) chez le poisson cavernicole aveugle Astyanax mexicanus. A Mutation in Monoamine Oxidase (MAO) Affects the Evolution of Stress Behavior in the Blind Cavefish Astyanax Mexicanus." Thesis, université Paris-Saclay, 2020. http://www.theses.fr/2020UPASS084.

Full text
Abstract:
Le neurotransmetteur sérotonine contrôle une grande variété de mécanismes physiologiques et comportementaux. Chez les humains, les mutations qui affectent la monoamine oxydase (MAO), l’enzyme qui dégrade la sérotonine, sont hautement délétères. Pourtant, le morphotype cavernicole aveugle de l’espèce Astyanax mexicanus (téléostéens) porte une mutation (P106L) induisant une perte de fonction partielle de cette enzyme, et semble prospérer dans son habitat souterrain naturel. Cette thèse décrit les effets de cette mutation, depuis l’échelle moléculaire à l’échelle des populations, afin de mieux cerner sa contribution à l’évolution des traits neuro-comportementaux du poisson cavernicole lors de son adaptation au milieu souterrain.Dans une première publication, nous avons établi 4 lignées de poissons, correspondant aux deux morphotypes de l’espèce Astyanax mexicanus (poisson cavernicole et poisson vivant en surface), chacun porteur ou non de la mutation P106L. La mutation P106L affecte le stress en augmentant l’amplitude de la réponse aigue au stress, tout en diminuant l’anxiété. Nous avons aussi étudié la distribution des allèles mutés dans les populations naturelles au Mexique et trouvé que l’allèle mutant est présent dans plusieurs grottes. L’évolution de l’allèle muté sous sélection ou dérive génétique est discutée.Dans une seconde publication, nous avons étudié les conséquences structurelles et biochimiques de la mutation P106L. La réduction de l’activité enzymatique de la MAO mutée est probablement due à une réduction de la flexibilité de l’une des boucles formant l’entrée au site actif, limitant l’accès des substrats. Des mesures d’HPLC ont montré des perturbations majeures de taux de sérotonine, dopamine et noradrénaline (et métabolites) dans le cerveau des poissons mutants. La mutation P106L mao est donc entièrement responsable du déséquilibre monoaminergique observé dans le cerveau des poissons cavernicoles. Enfin, l’effet de la mutation est partiellement compensé par une réduction de l’activité de synthèse de la sérotonine par la TPH. Nos résultats en révèlent plus sur les spécificités des systèmes monoaminergiques des poissons.Enfin, pour aggraver l’inhibition de la MAO, nous avons généré le premier poisson mutant knockout pour la MAO. Les mutants KO homozygotes sont chétifs et meurent durant les premières semaines de développement. Contrairement au système dopaminergique, le système sérotoninergique des poissons KO homozygotes est très fortement altéré : aucun neurone positif à la sérotonine n’est détecté dans l’hypothalamus
The neurotransmitter serotonin controls a great variety of physiological and behavioral processes. In humans, mutations affecting the monoamine oxidase or MAO, the serotonin-degrading enzyme, are highly deleterious. Yet, blind cavefish of the species A. mexicanus carry a partial loss-of-function mutation in MAO (P106L) and seem to thrive in their subterranean environ-ment. This thesis describes the effects of this mutation, from the molecular level to the population level, in order to decipher the exact contribution of mao P106L in the evolution of cavefish neuro-behavioral traits, during their adaptation to the cave environment.In a first paper, we established 4 fish lines, corresponding to the blind cave-dwelling and the sighted river-dwelling morphs of this species, with or without the mutation. We found that mao P106L strongly affected anxiety-like behaviors. Cortisol measurements showed lower basal levels and an increased amplitude of stress response after a change of environment in fish carrying the mutation. Finally, we studied the distribution of the P106L mao allele in wild populations of cave and river A. mexicanus, and discovered that the mutant allele was present – and sometimes fixed - in all populations inhabiting caves of the Sierra de El Abra. The possibility that this partial loss-of-function mao allele evolves under a selective or a genetic drift regime in the particular cave environment is discussed.In a second paper, we assessed the structural and biochemical consequences of the mutation. We found that the reduction of enzymatic activity of mutant MAO is probably caused by a decrease of flexibility in one of the three loops forming the entrance of the active site, thus reducing the access of substrates. HPLC measurements in brains of mutant and non-mutant larvae and adult fish showed major disturbances in serotonin, dopamine and noradrenalin (and metabolites) contents, demonstrating that the P106L mao mutation is fully responsible for monoaminergic disequilibrium in the cavefish brain. We also discovered that the effects of the mutation were partially compensated by a decrease in activity of the TPH, the serotonin biosynthesis rate-limiting enzyme. Our results shade light on the specificities of fish monoaminergic systems.Finally in order to aggravate the MAO inhibition, we generated the first fish knockout MAO mutant. The KO homozygous mutants were stunted and died during the first weeks of development. Contrary to the dopaminergic system which seemed normal in the KO homozygous mutants, the serotonergic system was strongly impaired; no serotonin positive neuron was detected in the hypothalamus
APA, Harvard, Vancouver, ISO, and other styles
2

Fila, Tatiana <1978&gt. "Neurogenesis impairment and cell cycle alterations in Down Syndrome." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2008. http://amsdottorato.unibo.it/990/.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

Pons, Espinal Meritxell 1986. "Role of DYRK1A in hippocampal neuroplasticity : implications for Down syndrome." Doctoral thesis, Universitat Pompeu Fabra, 2013. http://hdl.handle.net/10803/124485.

Full text
Abstract:
Synaptic connections in the brain respond throughout their lives to the activity of incoming neurons, adjusting their biological properties to increment activity-dependent changes. Hippocampal neuronal plasticity disruptions have been suggested as mechanisms underlying cognitive impairments in Down syndrome (DS). However, it remains unknown whether specific candidate genes are implicated in these phenotypes in the multifactorial context of trisomy 21. DYRK1A is a serine/threonine kinase, which overexpression is sufficient to recapitulate hippocampal learning and memory deficits characteristic of DS individuals and trisomic mouse models. In this Thesis we have studied the effects of DYRK1A overexpression on activity-dependent plasticity in the hippocampus. We found that transgenic mice overexpressing Dyrk1A (TgDyrk1A) present hippocampal morphological alterations in CA1 and CA3 that may constrain network connectivity, and therefore are relevant to the structure-function relationship. We also found reduced LTP that may derive from the changes in connectivity and in dendritic occupancy. Dendritic excitability and neuronal morphology are determinants of synaptic efficacy and thus may contribute to the hippocampal learning and memory deficits detected. In addition, we demonstrated important defects in adult neurogenesis in the dentate gyrus including reduced cell proliferation rate, altered cell cycle progression and reduced cell cycle exit leading to premature migration, altered differentiation and reduced survival of newly born cells. Moreover, less proportion of newborn hippocampal TgDyrk1A neurons are activated upon learning, suggesting reduced integration in learning circuits. Some of these alterations were rescued by normalizing DYRK1A kinase using a DYRK1A inhibitor, epigallocatechin-3-gallate. Interestingly, environmental stimulation also normalized DYRK1A kinase overdosage in the hippocampus, and rescued hippocampal morphology, synaptic plasticity and adult neurogenesis alterations in TgDyrk1A mice. We conclude that Dyrk1A is a good candidate gene to explain neuronal plasticity deficits in DS and that targeting DYRK1A kinase activity excess either pharmacologically or using environmental stimulation in the adult could correct these defects in DS.
Les connexions sinàptiques tenen la capacitat de respondre a l’activitat de neurones ajustant les seves propietats biològiques per incrementar els canvis activitat-depenents. Alteracions en la plasticitat neuronal de l’hipocamp s'han suggerit com a mecanismes subjacents als deterioraments cognitius característics en la síndrome de Down (SD). No obstant, es desconeix quins gens específics estan implicats en aquests fenotips en el context de la trisomia del cromosoma 21. DYRK1A és una serina / treonina quinasa, que quan es troba sobreexpressada recapitula el dèficit d'aprenentatge i de memòria depenent de l'hipocamp característic de la SD. En aquesta tesi, s’han estudiat els efectes de la sobreexpressió de DYRK1A en la plasticitat activitat-dependent de l’hipocamp. Hem descobert que ratolins transgènics amb sobreexpressió de Dyrk1A (TgDyrk1A) presenten alteracions morfològiques en les regions CA1 i CA3 de l'hipocamp, una limitació estructural en les connexions neuronals que és rellevant per entendre la relació entre estructura i funció. A més, hem trobat una reducció en la LTP possiblement deguda als canvis en la connectivitat i ocupació dendrítica. L’excitabilitat de les dendrites i la morfologia neuronal són factors determinants de l'eficàcia sinàptica i per tant poden contribuir als dèficits d'aprenentatge i la memòria de l'hipocamp detectats. Hem demostrat defectes importants en la neurogènesi adulta en el gir dentat incloent una reduïda taxa de proliferació cel·lular, alteracions en el cicle cel·lular i reducció de cèl·lules que surten del cicle cel·lular que condueix a una migració precoç de les noves cèl·lules generades i una reducció de la supervivència. D'altra banda, en ratolins TgDyrk1A hi ha menys proporció de neurones generades de novo que s'activen amb l'aprenentatge, indicant una menor integració d’aquestes en els circuits implicats en l'aprenentatge. Algunes d'aquestes alteracions han estat rescatades per la normalització de DYRK1A quinasa utilitzant un inhibidor de DYRK1A, epigallocatechin-3-gallate. L'estimulació del medi ambient també normalitza la sobreexpressió de DYRK1A quinasa en l'hipocamp, i rescata la morfologia, la plasticitat sinàptica i les alteracions en la neurogènesi adulta en ratolins TgDyrk1A. Arribem a la conclusió que Dyrk1A és un bon gen candidat per explicar els dèficits de plasticitat neuronal en la SD i que tractant l’excés d'activitat de la quinasa DYRK1A farmacològicament o mitjançant l'estimulació ambiental en l'adult podria corregir aquests defectes en la SD.
APA, Harvard, Vancouver, ISO, and other styles
4

Bianchi, Patrizia <1979&gt. "Defective neurogenesis in the Ts65Dn mouse, a model for Down syndrome, can be restored by pharmacological treatments." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2010. http://amsdottorato.unibo.it/3139/.

Full text
APA, Harvard, Vancouver, ISO, and other styles
5

Modyanova, Nadezhda N. "Semantic and pragmatic language development in typical acquisition, autism spectrum disorders, and Williams syndrome with reference to developmental neurogenetics of the latter." Thesis, Massachusetts Institute of Technology, 2009. http://hdl.handle.net/1721.1/57547.

Full text
Abstract:
Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Brain and Cognitive Sciences, 2009.
This electronic version was submitted by the student author. The certified thesis is available in the Institute Archives and Special Collections.
Cataloged from student submitted PDF version of thesis.
Includes bibliographical references.
The elucidation of the biological bases of a complex trait like human language proceeds from identification of precise behavioral phenotypes to investigation of the underlying genes. The human behavioral parts of this dissertation focus on understanding the reasons for children's overuse of definite article 'the', to refer to one of several objects in a context set, as opposed to the unique established referent. Competing theories argue the deficit is either in children's semantic computational knowledge (of uniqueness/maximality), or in their pragmatic/social awareness/theory-of-mind development. Experiments in this dissertation focused on children's comprehension and interpretation of the indefinite and definite determiners, as well as 'that', anaphors 'another' and 'same', and free relative clauses. The results in this thesis suggest that in typically developing (TD) children the late acquisition of determiner 'the' is due to the late maturation of the semantic principle of maximality. Children with autism spectrum disorders (ASD) and with Williams syndrome (WS) either manifested an adult-like competence, an absence of manifestation of knowledge, or a pattern found in TD younger children (where 'that' is understood better than 'the' as referring to the salient unique referent) -- indicating delay of development of the language faculty, but no deviance. This suggests that the observed deficits in ASD and WS pattern with those in TD, and hence are also semantic in nature. The mouse neurogenetic part of this dissertation investigates whether the GTF2I family of genes, causal to WS behavioral phenotype, also contributes to WS cortical development.
(cont.) By overexpression of Gtf2i and Gtf2ird1 in the mouse neocortex via in utero electroporation, their effects on laminar patterning and cell morphogenesis during brain development are characterized. The present results suggest that these genes can synergistically contribute to the abnormal neocortical development in WS, and thereby could contribute to language deficits in WS. Beyond posing an explanatory challenge to linguistic theories, the research comparing typical and atypical development sheds light on the mechanisms of language development and impairment, and provides endophenotypic descriptions of ASD and WS, which are crucial for elucidating not only genetics of neurodevelopmental disorders, but also the genetic basis of the human language faculty.
by Nadezhda N. Modyanova.
Ph.D.
APA, Harvard, Vancouver, ISO, and other styles
6

Vithayathil, Joseph. "Developmental and Post-natal Roles for ERK1/2 Signaling in the Hippocampus." Case Western Reserve University School of Graduate Studies / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=case1435760090.

Full text
APA, Harvard, Vancouver, ISO, and other styles
7

Lunion, Steeve. "Enrichissement environnemental, performances cognitives et neurogenèse hippocampique adulte chez un modèle murin du syndrome de Coffin-Lowry." Thesis, Paris 11, 2014. http://www.theses.fr/2014PA11T034/document.

Full text
Abstract:
Le syndrome de Coffin Lowry est une forme syndromique rare de déficience intellectuelle liée au chromosome X. Ce syndrome est dû à des mutations du gène Rsk2 codant la protéine kinase RSK2 dans la voie de signalisation des MAPK/ERK. La caractérisation phénotypique du modèle murin Rsk2-KO a principalement mis en évidence un retard d’acquisition ainsi qu’un déficit de mémoire spatiale à long terme, suggérant une altération des fonctions hippocampiques. Nous avons montré que les souris Rsk2-KO présentent également des déficits dans une forme d’apprentissage et de mémoire mettant en jeu la fonction de séparation de patterns dépendante du gyrus denté. Plusieurs études montrent que la genèse de nouveaux neurones dans le gyrus denté chez l’adulte constitue une forme de plasticité jouant un rôle important dans l’apprentissage et la mémoire dépendante de l’hippocampe, en particulier dans les tâches spatiales et de séparation de patterns. En raison des déficits observés chez les souris Rsk2-KO, nous nous sommes intéressés à la neurogenèse adulte chez ce modèle murin. Aucune différence de prolifération, de survie ou de maturation n’a été observée dans le gyrus denté des souris Rsk2-KO à l’état basal, ni après une tâche de séparation de patterns. Cependant, nous avons observé un déficit de survie des nouvelles cellules chez les souris Rsk2-KO après apprentissage dans la piscine de Morris. La littérature montre que l’enrichissement environnemental a des effets bénéfiques sur les performances cognitives des rongeurs et est notamment capable d’augmenter la neurogenèse adulte hippocampique. Nous avons donc analysé les effets de l’enrichissement sur les performances comportementales et la neurogenèse adulte des souris Rsk2-KO. Nos résultats montrent qu’un protocole d’enrichissement environnemental de 3 heures par jours durant 24 jours est capable de compenser ou d’améliorer les performances des souris Rsk2-KO dans les tâches de mémoire spatiale et de séparation de patterns et aussi d’augmenter la neurogenèse hippocampique adulte
The Coffin-Lowry Syndrome is a rare syndromic form of X-linked intellectual disability. This syndrome is caused by mutations of the Rsk2 gene that encodes a protein kinase, RSK2, in the MAPK/ERK signaling pathway. Characterization of the behavioural phenotype of Rsk2-KO mice mainly showed that they display delayed acquisition and long-term deficits in a spatial reference memory task, suggesting an alteration in hippocampal function. Here, we show that Rsk2-KO mice are also deficient in a learning and memory task that involves dentate gyrus-dependent pattern separation function. Several studies showed the formation of new neurons in the adult dentate gyrus by neurogenesis is a form of plasticity that plays a significant role in hippocampal-dependent learning and memory, in particular for spatial learning and memory and pattern separation. As these functions are altered in Rsk2-KO mice, we studied hippocampal adult neurogenesis in these mice. No difference in proliferation, survival and maturation of newborn neurons was found in the dentate gyrus of the mutant mice in basal conditions, nor after a pattern separation task. However, we found a deficit in the survival of newborn cells in Rsk2-KO mice submitted to spatial learning and memory in the Morris water maze task. According to several studies, environmental enrichment in rodents has beneficial effects on cognitive performance and is associated with an enhancement of adult hippocampal neurogenesis. Thus, we assessed the potential effect of environmental enrichment on spatial learning and memory performance and adult hippocampal neurogenesis in Rsk2-KO mice. Our results show that an environmental enrichment protocol of 3h per day during 24 days can rescue or ameliorate spatial learning and memory performance and pattern separation function in Rsk2-KO mice and increase adult hippocampal neurogenesis
APA, Harvard, Vancouver, ISO, and other styles
8

Najas, Sales Sònia 1985. "Role of DYRK1A in the development of the cerebral cortex : Implication in Down Syndrome." Doctoral thesis, Universitat Pompeu Fabra, 2014. http://hdl.handle.net/10803/380895.

Full text
Abstract:
In this work we have assessed the possible contribution of the human chromosome-21 gene DYRK1A in the developmental cortical alterations associated with Down Syndrome using the mBACTgDyrk1a mouse, which carries 3 copies of Dyrk1a, and a trisomic model of the syndrome, the Ts65Dn mouse. We show that trisomy of Dyrk1a changes the cell cycle parameters of dorsal telencephalic radial glial (RG) progenitors and the division mode of these progenitors leading to a deficit in glutamatergic neurons that persist until the adulthood. We demonstrate that Dyrk1a is the triplicated gene that causes the deficit in early-born cortical glutamatergic neurons in Ts65Dn mice. Moreover, we provide evidences indicating that DYRK1A-mediated degradation of Cyclin D1 is the underlying mechanism of the cell cycle defects in both, mBACTgDyrk1a and Ts65Dn dorsal RG progenitors. Finally, we show that early neurogenesis is enhanced in the medial ganglionic eminence of mBACTgDyrk1a embryos resulting in an altered proportion of particular cortical GABAergic neuron types. These results indicate that the overexpression of DYRK1A contributes significantly to the formation of the cortical circuitry in Down syndrome.
En aquest treball s'ha avaluat la possible contribució del gen DYRK1A, localitzat en el cromosoma humà 21, en les alteracions del desenvolupament de l’escorça cerebral associades a la Síndrome de down (SD) mitjançant l’estudi de dos models murins: el ratolí mBACTgDyrk1a, el qual conté 3 còpies de Dyrk1a, i el ratolí Ts65Dn, un dels models trisòmics de la SD més ben caracteritzats. Els nostres resultats mostren que la trisomia de Dyrk1A altera alguns paràmetres del cicle cel•lular i el tipus de divisió dels progenitors neurals del telencèfal dorsal, donant lloc a un dèficit de neurones glutamatèrgiques que persisteix fins l’edat adulta. Hem demostrat que Dyrk1a és el gen triplicat responsable del dèficit inicial en la generació de neurones glutamatèrgiques corticals observat en el ratolí Ts65Dn. A més a més, hem proporcionat evidències de que la degradació de Ciclina D1 induïda per DYRK1A és el mecanisme molecular subjacent a les alteracions de cicle cel•lular observades en els progenitors neuronals dels embrions mBACTgDyrk1a i Ts65Dn. Per altra banda, hem demostrat que la neurogènesis inicial està incrementada en l’eminència ganglionar medial dels embrions mBACTgDyrk1a, fet que altera la proporció de subtipus específics d’interneurones GABAèrgiques en l’escorça cerebral adulta. En conclusió, els nostres resultats indiquen que la sobreexpressió de DYRK1A contribueix significativament a la formació dels circuits cortical en la SD.
APA, Harvard, Vancouver, ISO, and other styles
9

Bernardet, Maude. "Etude des traits autistiques chez un modèle souris du X Fragile." Thesis, Bordeaux 1, 2008. http://www.theses.fr/2008BOR13749/document.

Full text
Abstract:
L’autisme est un trouble envahissant du développement défini uniquement sur des critères comportementaux et l’âge d’apparition. Le X fragile est une pathologie d’origine monogénique dont 15-25% des patients présente le diagnostique complet de l’autisme et dont de nombreux symptômes chevauchent avec l’autisme. Une souris Fmr1 KO a été créée et validée comme modèle pour le X fragile. A l’instar de la variabilité des phénotypes du X fragile chez l’humain, les données préliminaires montrent que la mutation nulle Fmr1 chez la souris interagit avec l'arrière fond génétique. Les travaux présentés visaient à déterminer les caractéristiques autistiques exprimées par les souris Fmr1 KO, ainsi que l’interaction de la mutation nulle avec le fond génétique (souches C57BL/6J, FVB.129P2tm1Cgr /J et leurs hybrides). Les résultats de ces travaux montrent notamment que les souris Fmr1 KO présentent un évitement initial d’approche sociale, des altérations principalement qualitatives des vocalisations, de l’hyperactivité et une augmentation de l’activité diurne. La mutation interagit avec le fond génétique et les résultats actuels indiquent que les KO de fond FVB.129P2tm1Cgr /J ont le phénotype le plus marqué
Autism is a pervasive developmental disorder defined by behavioural criteria and age of onset. Fragile X is a disorder due to the silencing of the Fmr1 gene. About 15-25% of Fragile X patients are diagnosed as autistic and many symptoms overlap between the two disorders. A mouse Fmr1 KO was created and validated as a model for Fragile X Syndrome. Preliminary data also show that the null mutation interacts with the genetic background. The work presented in this thesis aimed to determine the autistic features expressed in Fmr1 KO mice, as well as the influence of the genetic background (C57BL/6J and FVB.129P2tm1Cgr/J strains, and their reciprocal hybrids) on the expression of the Fmr1 mutation. Our results show an initial inhibition of social approach in Fmr1 KO mice and a qualitative alteration of ultrasonic vocalizations in isolated pups, as well as an increase in activity, especially during the diurnal period. The Fmr1 mutation interacts with the genetic background and the results indicate that KO on the FVB.129P2tm1Cgr/J background show the most marked phenotype
APA, Harvard, Vancouver, ISO, and other styles
10

Cavallin, Mara. "Physiopathologie moléculaire et cellulaire des anomalies du développement du cortex cérébral : le syndrome d'Aicardi WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly Mutations in TBR1 gene leads to cortical malformations and intellectual disability Aicardi syndrome: Exome, genome and RNA-sequencing of a large cohort of 19 patients failed to detect the genetic cause Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction Recurrent KIF2A mutations are responsible for classic lissencephaly Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly Rare ACTG1 variants in fetal microlissencephaly De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy A novel recurrent LIS1 splice site mutation in classic lissencephaly Further refinement of COL4A1 and COL4A2 related cortical malformations Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused By EGP5 mutation Delineating FOXG1 syndrome from congenital microcephaly to hyperkinetic encephalopathy Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy." Thesis, Sorbonne Paris Cité, 2019. https://wo.app.u-paris.fr/cgi-bin/WebObjects/TheseWeb.woa/wa/show?t=2213&f=18201.

Full text
Abstract:
Les malformations du cortex cérébral (MDC) représentent une cause importante de handicap et d'épilepsie pharmaco-résistante. Le séquençage à haut débit a permis une amélioration considérable de l'identification des bases moléculaires des MDC non syndromiques. Toutefois, certaines formes, notamment les MDC complexes, demeurent inexpliquées. Mon projet de thèse a pour objectif de progresser dans la compréhension des MDC complexes en utilisant deux modèles : les microlissencéphalies (MLIS) et le syndrome d'Aicardi (AIC), une forme syndromique particulière associant des malformations de l'oeil et du cerveau uniquement rapporté chez les filles. L'étude par séquençage d'exome en trios de 16 familles MLIS m'a permis d'identifier et de caractériser un nouveau gène, WDR81, impliqué dans le cycle cellulaire. Par la même stratégie, j'ai pu identifier un variant homozygote pathogène dans TLE1, un partenaire majeur de FOXG1 dans la balance prolifération/différenciation de progéniteurs neuronaux, dans une famille consanguine de microcéphalie postnatale dont le phénotype est proche du syndrome FOXG1. En parallèle, mes travaux ont permis de préciser les spectres phénotypiques associés à RTTN, EPG5, COL4A1, COL4A2, TBR1, KIF5C, KIF2A et FOXG1. La deuxième partie de mon projet avait pour objet l'identification des bases moléculaires du syndrome d'Aicardi à partir d'une cohorte internationale de 19 patientes. Après avoir exclu un biais d'inactivation du chromosome X et la présence de microremaniements chromosomiques, j'ai réalisé un séquençage d'exome en trio. Aucun variant récurrent n'a été retrouvé dans les séquences codantes. Dans un second temps, j'ai testé une approche combinant les données du séquençage de génome et l'analyse du transcriptome (RNA-Seq) sur fibroblastes, me permettant d'identifier des transcrits dérégulés qui étaient impliqués dans le développement du cerveau et de l'oeil. J'ai comparé les résultats de cette analyse avec ceux de l'analyse du génome dans le but d'identifier des variants dans ces gènes candidats. En conclusion, mon travail de thèse a permis d'améliorer la connaissance des bases moléculaires des MDC complexes et d'ouvrir des perspectives de nouveaux mécanismes tels que ceux engageant les gènes WDR81 et EPG5, et le rôle des endosomes et de l'autophagie dans les MDC, et aussi TLE1 comme nouvelle cause de microcéphalies postnatales. Mes travaux ont également permis de générer une collection de données de séquençage haut débit (WES, WGS et RNA-Seq) qui seront mises en commun dans le cadre d'un consortium international afin de développer des nouvelles stratégies d'analyse en particulier pour les séquences non codantes. Cette approche permettra également d'ouvrir la voie vers la compréhension des mécanismes cellulaires impliqués dans la formation du cerveau et de l' œil
Malformations of cortical development (MCD) are a major cause of intellectual disability and drug-resistant epilepsy. Next Generation Sequencing (NGS) has considerably improved the identification of the molecular basis of non-syndromic MCD. However, certain forms, including complex MCD, remain unexplained. My PhD project aimed to improve the understanding of complex MCD using two disorders: Microlissencephaly (MLIS) and Aicardi Syndrome (AIC), the latter associating brain and eye malformations and only reported in girls. Trio Whole Exome Sequencing (WES) performed in 16 MLIS families allowed me to identify and functionally characterize a new MLIS gene, WDR81, in which mutations lead to cell cycle alteration. Moreover, using the same strategy, I was able to identify a pathogenic homozygous variant in TLE1 in a patient from consanguineous family with a postnatal microcephaly, suggestive of a FOXG1-like presentation. Interestingly, TLE1 is a major partner of FOXG1, a gene involved in maintaining the balance between progenitor proliferation and differentiation. In parallel, my work allowed me to redefine the phenotypic spectrum associated with RTTN, EPG5, COL4A1 and COL4A2, TBR1, KIF5C, KIF2A and FOXG1. The second part of my PhD program was aimed at identifying the genetic basis of AIC in an international cohort of 19 patients. After excluding a skewed X chromosome inactivation and the presence of chromosomal rearrangements, I performed WES in trios. The analysis of the data from WES did not allow me to identify any recurrent variants. I therefore tested a new approach combining Whole Genome Sequencing (WGS) and RNA-Sequencing (RNA-Seq) on fibroblast cells. I identified a number of deregulated transcripts implicated in brain and eye development. I compared the results of this analysis with the WGS analysis in order to find variants in these candidate genes. In conclusion, these studies have improved the knowledge of the molecular basis of complex MCD, such as TLE1 in postnatal microcephaly, and revealed the pathogenic mechanisms such as WDR81 in cell cycle progression and EPG5 in endosomes and autophagy. My work has also generated a collection of NGS data (WES, WGS and RNA-Seq) that will be shared in an international consortium to develop new analytical strategies, in particular for the non-coding DNA regions. This novel strategy provides opportunities to improve understanding of the cellular mechanisms involved in brain and eye development
APA, Harvard, Vancouver, ISO, and other styles
More sources

Books on the topic "Neurogenetic syndrome"

1

Shapiro, Bruce K. Neurogenetic syndromes: Behavioral issues and their treatment. Baltimore: Paul H. Brookes Pub. Co., 2010.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
2

A, Rondal J., and Perera Juan, eds. Down syndrome: Neurobehavioral specificity. Chichester, England: Wiley, 2006.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
3

Takao, Kumazawa, Kruger Lawrence, and Mizumura Kazue, eds. The polymodal receptor: A gateway to pathological pain. Amsterdam: Elsevier, 1996.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
4

COURTNEY, Albert T. Cbd and Neurogenetic Syndrome: The Absolute Guide on How CBD Works for Neurogenetic Syndrome. Independently Published, 2019.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
5

Graves, Tracey. Neurogenetic disease. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0223.

Full text
Abstract:
There are many genetic diseases which affect the nervous system. Although some of these are extremely rare, several are quite common and, as a group, they comprise a significant proportion of neurological disease. Almost all clinical neurological syndromes can have a genetic cause. Not all of these have been genetically elucidated, but some have been extensively characterized in terms of clinical phenotype, molecular genetics, and cellular pathophysiology. Given the improvement in laboratory techniques and subsequent reduction in the cost of direct DNA sequencing, there is likely to be a rapid expansion over the next decade in the identification of causative genes and hence the availability of genetic tests. Thus, all clinicians should have a basic understanding about genetic disease; inheritance patterns; availability of genetic tests; genetic counselling; and ethics. Particular subspeciality areas where neurogenetic disease is common include neuromuscular disease and movement disorders.
APA, Harvard, Vancouver, ISO, and other styles
6

Neurogenetic syndromes: Behavioral issues and their treatment. Baltimore, Md: Paul H. Brookes Pub. Co., 2010.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
7

K, Shapiro Bruce, and Accardo Pasquale J, eds. Neurogenetic syndromes: Behavioral issues and their treatment. Baltimore, Md: Paul H. Brookes Pub. Co., 2010.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
8

K, Shapiro Bruce, and Accardo Pasquale J, eds. Neurogenetic syndromes: Behavioral issues and their treatment. Baltimore: Paul H. Brookes Pub. Co., 2010.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
9

K, Shapiro Bruce, and Accardo Pasquale J, eds. Neurogenetic syndromes: Behavioral issues and their treatment. Baltimore: Paul H. Brookes Pub. Co., 2010.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
10

Perera, Juan, and Jean-Adolphe Rondal. Down Syndrome. Wiley & Sons, Incorporated, John, 2006.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
More sources

Book chapters on the topic "Neurogenetic syndrome"

1

Cole, David E. C., and Miles D. Thompson. "Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome." In Subcellular Biochemistry, 343–61. Dordrecht: Springer Netherlands, 2015. http://dx.doi.org/10.1007/978-94-017-7197-9_16.

Full text
APA, Harvard, Vancouver, ISO, and other styles
2

Schöls, L. "Myasthene Syndrome." In Neurogenetik, 370–74. Berlin, Heidelberg: Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-72074-1_28.

Full text
APA, Harvard, Vancouver, ISO, and other styles
3

Rieß, O., L. Schöls, H. Przuntek, and B. Leube. "Extrapyramidal-motorische Syndrome." In Neurogenetik, 223–48. Berlin, Heidelberg: Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-72074-1_18.

Full text
APA, Harvard, Vancouver, ISO, and other styles
4

Schöls, L. "Gilles-de-la-Tourette-Syndrom." In Neurogenetik, 222–23. Berlin, Heidelberg: Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-72074-1_17.

Full text
APA, Harvard, Vancouver, ISO, and other styles
5

Bergner, Amanda. "Overview of Neurocutaneous Syndromes." In Genetic Counseling for Adult Neurogenetic Disease, 273–78. Boston, MA: Springer US, 2014. http://dx.doi.org/10.1007/978-1-4899-7482-2_22.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

Maier, Alice, Nicholas P. Ryan, Anita Chisholm, and Jonathan M. Payne. "Social cognition in autism spectrum disorder and neurogenetic syndromes." In Clinical Disorders of Social Cognition, 108–44. London: Routledge, 2021. http://dx.doi.org/10.4324/9781003027034-4.

Full text
APA, Harvard, Vancouver, ISO, and other styles
7

Blum, Kenneth, David Han, John Giordano, Raquel Lohmann, Eric R. Braverman, Margaret A. Madigan, Debmalya Barh, et al. "Neurogenetics and Nutrigenomics of Reward Deficiency Syndrome (RDS): Stratification of Addiction Risk and Mesolimbic Nutrigenomic Manipulation of Hypodopaminergic Function." In Omics for Personalized Medicine, 365–98. New Delhi: Springer India, 2013. http://dx.doi.org/10.1007/978-81-322-1184-6_18.

Full text
APA, Harvard, Vancouver, ISO, and other styles
8

"Klinefelter Syndrome." In Neurogenetic Developmental Disorders. The MIT Press, 2007. http://dx.doi.org/10.7551/mitpress/4946.003.0006.

Full text
APA, Harvard, Vancouver, ISO, and other styles
9

"Williams Syndrome." In Neurogenetic Developmental Disorders. The MIT Press, 2007. http://dx.doi.org/10.7551/mitpress/4946.003.0011.

Full text
APA, Harvard, Vancouver, ISO, and other styles
10

"Fragile X Syndrome." In Neurogenetic Developmental Disorders. The MIT Press, 2007. http://dx.doi.org/10.7551/mitpress/4946.003.0007.

Full text
APA, Harvard, Vancouver, ISO, and other styles

Conference papers on the topic "Neurogenetic syndrome"

1

Yildirim, Murat, Danielle Feldman, Tianyu Wang, Dimitre G. Ouzounov, Stephanie Chou, Justin Swaney, Kwanghun Chung, Chris Xu, Peter T. C. So, and Mriganka Sur. "Third harmonic generation imaging of intact human cerebral organoids to assess key components of early neurogenesis in Rett Syndrome (Conference Presentation)." In Multiphoton Microscopy in the Biomedical Sciences XVII, edited by Ammasi Periasamy, Peter T. So, Xiaoliang S. Xie, and Karsten König. SPIE, 2017. http://dx.doi.org/10.1117/12.2256182.

Full text
APA, Harvard, Vancouver, ISO, and other styles
You might also be interested in the extended bibliographies on the topic 'Neurogenetic syndrome' for particular source types:
Journal articles Dissertations / Theses Books
We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!

To the bibliography