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Handbook of Clinical Neurology

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https://www.readbyqxmd.com/read/29325632/foreword
#1
EDITORIAL
Michael J Aminoff, François Boller, Dick F Swaab
No abstract text is available yet for this article.
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325631/preface
#2
EDITORIAL
Daniel H Geschwind, Henry L Paulson, Christine Klein
No abstract text is available yet for this article.
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325630/towards-precision-medicine
#3
Tanya Bardakjian, Pedro Gonzalez-Alegre
The concept of precision medicine, also referred to as individualized or personalized medicine, has recently gained traction in scientific, medical, and public spheres, and is frequently mentioned as the next model of healthcare delivery. Its goal is to integrate unique information obtained from a given patient to customize the care provided to achieve the best possible outcome. Although precision medicine is not fully implemented yet, its application is slowly infiltrating clinical practice, and the dream of individualizing healthcare to each patient is now closer to being fulfilled...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325629/bioinformatics-and-genomic-databases
#4
Jason Chen, Giovanni Coppola
High-throughput, low-cost sequencing technologies have begun to yield new insights into biology and medicine. New data enable the interrogation of the molecular biology of disease from DNA to RNA to protein, charting the central dogma. This chapter reviews some of the key advances and resources in the application of bioinformatics to understanding, and ultimately diagnosing and treating, diseases of the nervous system. Array genotyping, exome sequencing, and whole-genome sequencing, in both disease and healthy populations, have enabled the interpretation of new genetic data...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325628/pharmacogenetics
#5
Jeffrey R Bishop
Pharmacogenetics is the study of how genetics influences drug treatment outcomes. Much research has been conducted to identify and characterize gene variants that impact the pharmacokinetic and pharmacodynamic aspects of medications used to treat neurologic and psychiatric disorders. This chapter reviews the current state of pharmacogenetic aspects of these treatments. Medications with supporting pharmacogenetic information in product labeling, clinical guidelines, or important mechanistic implications are discussed...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325627/epigenetic-mechanisms-underlying-nervous-system-diseases
#6
Irfan A Qureshi, Mark F Mehler
Epigenetic mechanisms act as control systems for modulating genomic structure and activity in response to evolving profiles of cell-extrinsic, cell-cell, and cell-intrinsic signals. These dynamic processes are responsible for mediating cell- and tissue-specific gene expression and function and gene-gene and gene-environmental interactions. The major epigenetic mechanisms include DNA methylation and hydroxymethylation; histone protein posttranslational modifications, nucleosome remodeling/repositioning, and higher-order chromatin reorganization; noncoding RNA regulation; and RNA editing...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325626/fragile-x-syndrome-and-fragile-x-associated-tremor-ataxia-syndrome
#7
Deborah A Hall, Elizabeth Berry-Kravis
Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1. It is associated with developmental delay, autism spectrum disorder, and seizures. Fragile X-associated tremor/ataxia syndrome is a progressive neurodegenerative disease that occurs in premutation carriers of 55-200 CGG repeats in FMR1 and is characterized by kinetic tremor, gait ataxia, parkinsonism, executive dysfunction, and neuropathy...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325625/evolving-views-of-human-genetic-variation-and-its-relationship-to-neurologic-and-psychiatric-disease
#8
Daniel H Geschwind
Recent advances in exome and genome sequencing in populations are beginning to define the genetic architecture of neurologic and psychiatric disease. At the same time these findings are changing our perspective of genetic variant contributions to disease, implicating both rare and common genetic variation in common diseases. Most of what we know about genetic contributions to disease so far comes from analysis of mutations in protein-coding genes. Since most genetic variation lies in nonprotein-coding regions of the genome whose presumed function is entirely regulatory, understanding gene regulation in a cell type and developmental state-specific manner will be important to connect human genetic variation to disease mechanisms...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325624/sex-chromosome-aneuploidies
#9
David Skuse, Frida Printzlau, Jeanne Wolstencroft
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes. We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, and XXYY. Despite their prevalence in the general population, these disorders are underdiagnosed and the specific genetic mechanisms underlying their phenotypes are poorly understood. Although there is considerable variation between them in terms of associated functional impairment, each disorder has a characteristic physical, cognitive, and neurologic profile...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325623/tourette-disorder-and-other-tic-disorders
#10
Thomas V Fernandez, Matthew W State, Christopher Pittenger
Tourette disorder is a developmental neuropsychiatric condition characterized by vocal and motor tics that can range in severity from mild to disabling. It represents one end of a spectrum of tic disorders and is estimated to affect 0.5-0.7% of the population. Accumulated evidence supports a substantial genetic contribution to disease risk, but the identification of genetic variants that confer risk has been challenging. Positive findings in candidate gene association studies have not replicated, and genomewide association studies have not generated signals of genomewide significance, in large part because of inadequate sample sizes...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325622/the-emerging-genetic-landscape-of-cerebral-palsy
#11
C L van Eyk, M A Corbett, A H Maclennan
Cerebral palsy (CP) is a broad clinical descriptor that encompasses a heterogeneous group of nonprogressive neurodevelopmental disabilities affecting movement and posture. While linked by the presence of damage to the developing brain, the etiology of CP is likely varied and the clinical outcomes are diverse. There is now a large body of evidence supporting a significant role for genetics in causation of CP. An increasing number of studies have identified likely causative genetic variants in families with CP, as well as in individual sporadic cases...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325621/genetics-of-autism-spectrum-disorder
#12
Gokul Ramaswami, Daniel H Geschwind
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by impaired social interaction and stereotyped behaviors. ASD has a strong and complex genetic component, with multiple familial inheritance patterns and an estimate of up to 1000 genes potentially implicated. Over the past decade, genomic technologies have enabled rapid progress in the identification of risk genes for ASD. In this chapter, we review the delineation of ASD disease genes starting from traditional genetic studies such as linkage and association, and then focusing on more recent studies utilizing genomic technologies, such as high-throughput genotyping and exome sequencing...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325620/primary-familial-brain-calcifications
#13
Beatriz Quintáns, Joao Oliveira, María-Jesús Sobrido
Primary familial brain calcification (PFBC) is a neurodegenerative disease with characteristic calcium deposits in the basal ganglia and other brain regions. The disease usually presents as a combination of abnormal movements, cognitive and psychiatric manifestations, clinically indistinguishable from other adult-onset neurodegenerative disorders. The differential diagnosis must be established with genetic and nongenetic disorders that can also lead to calcium deposits in encephalic structures. In the past years PFBC causal mutations have been discovered in genes related to calcium phosphate homeostasis (SLC20A2, XPR1) and in genes involved with endothelial function and integrity (PDGFB, PDGFRB)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325619/clinical-approach-to-the-patient-with-neurogenetic-disease
#14
Thomas D Bird, Corrie O Smith
Neurogenetic diseases are surprisingly common. This chapter reviews a systematic approach to the evaluation of a patient thought to have such a disease. The emphasis is on first recognizing potential clues to the diagnosis contained in the family history and presentation of symptoms. Ataxia, neuropathy, muscle weakness, dementia, epilepsy, and cognitive delay are all "reservoirs" of neurogenetic disease. A high index of suspicion for genetic causes and a thoughtful evaluation of simplex (sporadic) cases is often necessary...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325618/neurodegeneration-with-brain-iron-accumulation
#15
Susan J Hayflick, Manju A Kurian, Penelope Hogarth
Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of disorders affecting children and adults. These rare disorders are often first suspected when increased basal ganglia iron is observed on brain magnetic resonance imaging. For the majority of NBIA disorders the genetic basis has been delineated, and clinical testing is available. The four most common NBIA disorders include pantothenate kinase-associated neurodegeneration (PKAN) due to mutations in PANK2, phospholipase A2-associated neurodegeneration caused by mutation in PLA2G6, mitochondrial membrane protein-associated neurodegeneration from mutations in C19orf12, and beta-propeller protein-associated neurodegeneration due to mutations in WDR45...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325617/wilson-disease-and-related-copper-disorders
#16
Matthew T Lorincz
Copper is a required cofactor for enzymes in critical metabolic pathways. Mutations in copper metabolism genes or abnormalities in copper metabolism result in disease from copper excess or deficiency. Wilson disease (WD) is an autosomal-recessive disease caused by mutations in the ATP7B gene which encodes a copper-transporting ATPase. Over 500 different WD mutations throughout the ATP7B gene have been described, most of which are missense mutations. Mutations in both ATP7B alleles result in abnormal copper metabolism and subsequent toxic accumulation of copper...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325616/huntington-disease
#17
Rhia Ghosh, Sarah J Tabrizi
Huntington disease is a monogenic neurodegenerative disorder that displays an autosomal-dominant pattern of inheritance. It is characterized by motor, psychiatric, and cognitive symptoms that progress over 15-20 years. Since the identification of the causative genetic mutation in 1993 much has been discovered about the underlying pathogenic mechanisms, but as yet there are no disease-modifying therapies available. This chapter reviews the epidemiology, genetic basis, pathogenesis, presentation, and clinical management of Huntington disease...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325615/inherited-dystonias-clinical-features-and-molecular-pathways
#18
Corinne E Weisheit, Samuel S Pappas, William T Dauer
Recent decades have witnessed dramatic increases in understanding of the genetics of dystonia - a movement disorder characterized by involuntary twisting and abnormal posture. Hampered by a lack of overt neuropathology, researchers are investigating isolated monogenic causes to pinpoint common molecular mechanisms in this heterogeneous disease. Evidence from imaging, cellular, and murine work implicates deficiencies in dopamine neurotransmission, transcriptional dysregulation, and selective vulnerability of distinct neuronal populations to disease mutations...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325614/ethical-issues-in-neurogenetics
#19
Wendy R Uhlmann, J Scott Roberts
Many neurogenetic conditions are inherited and therefore diagnosis of a patient will have implications for the patient's relatives and can raise ethical issues. Predictive genetic testing offers asymptomatic relatives the opportunity to determine their risk status for a neurogenetic condition, and professional guidelines emphasize patients' autonomy and informed, voluntary decision making. Beneficence and nonmaleficence both need to be considered when making decisions about disclosure and nondisclosure of genetic information and test results...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325613/essential-tremor
#20
Lorraine N Clark, Elan D Louis
Essential tremor (ET) is one of the most common neurologic disorders, and genetic factors are thought to contribute significantly to disease etiology. There has been a relative lack of progress in understanding the genetic etiology of ET. This could reflect a number of factors, including the presence of substantial phenotypic and genotypic heterogeneity. Thus, a meticulous approach to phenotyping is important for genetic research. A lack of standardized phenotyping across studies and patient centers likely has contributed to the relative lack of success of genomewide association studies in ET...
2018: Handbook of Clinical Neurology
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