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Books on the topic 'Mutation cognitive'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

Botoyiyê, Geoffroy A. Dominique. Le passage à l'écriture: Mutation culturelle et devenir des savoirs dans une société de l'oralité. Presses universitaires de Rennes, 2010.

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2

Le Management du troisième millénaire, holistique systémique : Mutation structurelle des systèmes - Métamorphose cognitive des acteurs. Guy Trédaniel éditeur, 1990.

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3

Lemiere, Jurgen. Huntington's Disease: Early Detection & Progression of Cognitive Changes in Patients & Asymptomatic Mutation Carriers (Acta Biomedica Lovaniensia). Leuven Univ Pr, 2004.

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4

Walsh, Richard A. Parkinson’s Disease or Essential Tremor? Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190607555.003.0016.

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Fragile X-associated tremor ataxia syndrome is a heredodegenerative syndrome that presents in older men as a tremor syndrome with less prominent ataxia and cognitive impairment initially. The underlying genetic cause, a premutation in the FMR1 gene, results in a toxic accumulation of mRNA. The full mutation, a triple-repeat expansion of more than 200 CGG repeats, gives rise to a reduction in FMR1 protein expression and fragile X, a neurodevelopmental disorder that may be identified in successive male generations. The prevalence of carrier status is high in the general population, and it is lik

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5

Quain, Angela, and Anne M. Comi. Sturge-Weber Syndrome and Related Cerebrovascular Malformation Syndromes. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0112.

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Sturge-Weber syndrome is a rare disorder presenting with a capillary malformation, better known as a port-wine birthmark, on the upper face, glaucoma, and a leptomeningeal angioma. Most children develop seizures and strokes, with variable degrees of neurodevelopmental impairments including hemiparesis, visual field deficits, cognitive deficits, epilepsy, and migraines. In 2013, a somatic activating mutation in GNAQ was identified in the capillary malformations and leptomeningeal angiomas of Sturge-Weber patients. In the diagnosis of Sturge-Weber syndrome, contrast-enhanced imaging is essential

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6

Vers un capitalisme cognitif: Entre mutations du travail et territoires. L'Harmattan, 2001.

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7

Budimirovic, Dejan B., and Megha Subramanian. Neurobiology of Autism and Intellectual Disability. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0052.

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Fragile X syndrome (FXS) is a neurodevelopmental disorder that manifests with a range of cognitive, behavioral, and social impairments. It is a monogenetic disease caused by silencing of the FMR1 gene, in contrast to autism spectrum disorder (ASD) that is a behaviorally-defined set of complex disorders. Because ASD is a major and growing public health concern, current research is focused on identifying common therapeutic targets among patients with different molecular etiologies. Due to the prevalence of ASD in FXS and its shared neurophysiology with ASD, FXS has been extensively studied as a

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8

Kantor, Martin. Why a Gay Person Can’t Be Made Un-Gay. ABC-CLIO, LLC, 2014. http://dx.doi.org/10.5040/9798216035589.

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Despite an abysmal “success rate,” practitioners still use reparative therapy in an attempt to turn gays and lesbians straight. This text exposes the pitfalls that should be considered before gays embark on this journey that typically leads nowhere. Although homosexuality is becoming less stigmatized in American culture, gays and lesbians still face strong social, familial, financial, or career pressures to “convert” to being heterosexuals. In this groundbreaking book, longtime psychiatrist Martin Kantor, MD—himself homosexual and once immersed in therapy to become “straight”—explains why so-c

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9

Sedel, Frédéric. Krabbe Disease in Adults. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0051.

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Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive lysosomal storage disease caused by mutations in the lysosomal galactocerebrosidase (galactosyl ceramidase) gene. Krabbe disease usually presents as a severe leukodystrophy in early infancy and childhood. In contrast, adult patients usually present with progressive spastic paraparesis. Other signs of the disease include peripheral neuropathy, dysarthria, cerebellar ataxia, pes cavus deep sensory signs, tongue atrophy, optic neuropathy, cognitive decline. Cerebrospinal fluid protein concentration is moderately increased in a

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10

Sedel, Frédéric. Niemann-Pick Disease Type C. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0053.

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Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene. The encoded proteins appear to be involved in lysosomal/late endosomal transport of cholesterol, glycolipids, and other molecules, but their exact function is still unknown. The clinical spectrum of the disease ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease characterized prominently by psychiatric disorders, cerebellar ataxia, cognitive decline, and vertical supran

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11

Williams, Richard O., and Jeffrey Freed. The Spectrum of Twice Exceptional and Autistic Learners and Suggestions for Their Learning Styles. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190645472.003.0014.

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This chapter compares the exceptionalities and learning disabilities found in twice exceptional (2e) learners with those of learners on the autistic spectrum who have identifiable autistic traits but not an autistic spectrum disorder diagnosis. Many autistic learners have similar exceptionalities to 2e learners, and the chapter presents genetic and neuroscience evidence to support the claim. It argues that many of the learning disabilities for each group result from unusual and exceptional sensory processing issues. In many cases hypersensitivity of the senses causes behavioral issues for the

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12

Weiner, Howard, and Peter B. Crino. Familial tumour syndromes: tuberous sclerosis complex. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199651870.003.0017.

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Tuberous sclerosis complex (TSC) is a multisystem, genetic disorder that results from mutations in TSC1 or TSC2 genes. Neurological and neuropsychiatric disabilities include epilepsy, intellectual disability, autism, attention deficit disorder, and generalized anxiety. Cortical dysplasias (also known as tubers) are developmental abnormalities of the cerebral cortex that are believed to be responsible for seizures, cognitive disability, and autism. Subependymal giant cell astrocytomas (SEGAs) are intraventricular tumours that can cause hydrocephalus, increased intracranial pressure, and death.

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13

Krueger, Darcy A., and Jamie Capal. Familial CNS Tumor Syndromes. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0136.

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Tuberous sclerosis complex is an autosomal dominant multi-system disease that involves the skin, brain, heart, lungs, and kidneys and is associated with seizures including infantile spasms, intellectual disability, autism and pulmonary and heart disease. Skin lesions can be particularly disfiguring and infantile spasms can be associated with marked cognitive decline. The outlook for patients has improved markedly with the recognition that TSC is caused by upregulation of the mammalian target of rapamycin (mTOR) enzyme, which connects energy needs and supply with cellular and neuronal growth. m

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14

Holliday, Kate L., Wendy Thomson, and John McBeth. Genetics of chronic musculoskeletal pain. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0045.

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Chronic pain disorders are prevalent and a large burden on health care resources. Around 10% of the general population report chronic widespread pain, which is the defining feature of fibromyalgia. Fibromyalgia is a poorly understood idiopathic disorder which is also characterized by widespread tenderness and commonly occurs with comorbid mood disorders, fatigue, sleep disturbance, and cognitive dysfunction. A role for genetics in chronic pain disorders has been identified by twin studies, with heritability estimates of around 50%. Susceptibility genes for chronic pain are likely to be involve

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15

Holliday, Kate L., Wendy Thomson, John McBeth, and Nisha Nair. Genetics of chronic musculoskeletal pain. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199642489.003.0045_update_001.

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Chronic pain disorders are prevalent and a large burden on health care resources. Around 10% of the general population report chronic widespread pain, which is the defining feature of fibromyalgia. Fibromyalgia is a poorly understood idiopathic disorder which is also characterized by widespread tenderness and commonly occurs with comorbid mood disorders, fatigue, sleep disturbance, and cognitive dysfunction. A role for genetics in chronic pain disorders has been identified by twin studies, with heritability estimates of around 50%. Susceptibility genes for chronic pain are likely to be involve

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16

Foggensteiner, Lukas, and Philip Beales. Bardet–Biedl syndrome and other ciliopathies. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0314.

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Ciliopathies encompass a genotypically complex and phenotypically variable and overlapping series of disorders that makes the general term ‘ciliopathies’ very useful. The genes behind these conditions encode parts of the machinery of the primary cilium. This is also true of the major cystic kidney disorders autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease, but the ‘long tails’ of other ciliopathies are characterized by variable nephropathy (often without cyst formation), retinopathy, and effects on brain and skeletal development. Not all have subst

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