Familial Chiari malformation: case series

2011 ◽  
Vol 31 (3) ◽  
pp. E1 ◽  
Author(s):  
Benjamin D. Schanker ◽  
Brian P. Walcott ◽  
Brian V. Nahed ◽  
Kristopher T. Kahle ◽  
Yan Michael Li ◽  
...  
Keyword(s):  
Chiari Malformation ◽  
Familial Aggregation ◽  
Association Studies ◽  
Case Reports ◽  
Case Series ◽  
Twin Studies ◽  
Type I ◽  
Genome Wide Association Studies ◽  
Chiari Malformation Type I ◽  
Genome Wide

Chiari malformations (Types I–IV) are abnormalities of the posterior fossa that affect the cerebellum, brainstem, and the spinal cord with prevalence rates of 0.1%–0.5%. Case reports of familial aggregation of Chiari malformation, twin studies, cosegregation of Chiari malformation with known genetic conditions, and recent gene and genome-wide association studies provide strong evidence of the genetic underpinnings of familial Chiari malformation. The authors report on a series of 3 family pairs with Chiari malformation Type I: 2 mother-daughter pairs and 1 father-daughter pair. The specific genetic causes of familial Chiari malformation have yet to be fully elucidated. The authors review the literature and discuss several candidate genes. Recent advances in the understanding of the genetic influences and pathogenesis of familial Chiari malformation are expected to improve management of affected patients and monitoring of at-risk family members.

Genetic Risk Factors of Depression

Depression ◽  
2019 ◽  
pp. 33-50
Author(s):  
Thorhildur Halldorsdottir ◽  
Hildur Ýr Hilmarsdottir
Keyword(s):  
Genetic Risk ◽  
Familial Aggregation ◽  
Association Studies ◽  
Twin Studies ◽  
Risk Scores ◽  
Environment Interaction ◽  
Genome Wide Association Studies ◽  
Gene By Environment Interaction ◽  
Genome Wide ◽  
Candidate Gene Studies

Research on the genetic underpinnings of depression has rapidly advanced in the past decade. This field of research provides a promising avenue toward improving the diagnosis of, prevention of, and treatment for this devastating disorder. The goal of this chapter is to review the main genetic and gene-by-environment interaction findings on depression. We first describe family and twin studies used to empirically study the familial aggregation of depression. Second, we provide a review of the genome-wide association studies (GWAS) published to date. Building on GWAS findings, we will discuss the use of polygenic risk scores in predicting depression. We also review the most robust candidate gene studies and gene-by-environment interaction studies. Finally, we discuss the clinical implications of the findings and promising strategies for making further progress within this field.

scholarly journals Treatment of Syringomyelia Associated with Chiari malformation (Type I), FMD was effective-2 Case Reports-

2004 ◽  
Vol 53 (1) ◽  
pp. 80-84
Author(s):  
Takashi Inokuchi ◽  
Hironobu Akune ◽  
Toshio Tokuhisa ◽  
Masakazu Kouzuma ◽  
Hideki Ota
Keyword(s):  
Chiari Malformation ◽  
Case Reports ◽  
Type I ◽  
Chiari Malformation Type I

scholarly journals Insights into Dyslexia Genetics Research from the Last Two Decades

2021 ◽  
Vol 12 (1) ◽  
pp. 27
Author(s):  
Florina Erbeli ◽  
Marianne Rice ◽  
Silvia Paracchini
Keyword(s):  
Language Disorder ◽  
Association Studies ◽  
Neurodevelopmental Disorder ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Twin Studies ◽  
Genome Wide Association Studies ◽  
Genetics Research ◽  
Genome Wide ◽  
Genetic Risks

Dyslexia, a specific reading disability, is a common (up to 10% of children) and highly heritable (~70%) neurodevelopmental disorder. Behavioral and molecular genetic approaches are aimed towards dissecting its significant genetic component. In the proposed review, we will summarize advances in twin and molecular genetic research from the past 20 years. First, we will briefly outline the clinical and educational presentation and epidemiology of dyslexia. Next, we will summarize results from twin studies, followed by molecular genetic research (e.g., genome-wide association studies (GWASs)). In particular, we will highlight converging key insights from genetic research. (1) Dyslexia is a highly polygenic neurodevelopmental disorder with a complex genetic architecture. (2) Dyslexia categories share a large proportion of genetics with continuously distributed measures of reading skills, with shared genetic risks also seen across development. (3) Dyslexia genetic risks are shared with those implicated in many other neurodevelopmental disorders (e.g., developmental language disorder and dyscalculia). Finally, we will discuss the implications and future directions. As the diversity of genetic studies continues to increase through international collaborate efforts, we will highlight the challenges in advances of genetics discoveries in this field.

4. What are the contributions of environments and genes to intelligence differences?

2020 ◽  
pp. 50-69
Author(s):  
Ian J. Deary
Keyword(s):  
Association Studies ◽  
Twin Studies ◽  
Identical Twins ◽  
New Method ◽  
Genome Wide Association ◽  
Shared Environment ◽  
Genome Wide Association Studies ◽  
Genetic Inheritance ◽  
Genome Wide ◽  
Shared Environments

‘What are the contributions of environments and genes to intelligence differences?’ asks whether genetic inheritance and the environments people experience affect intelligence differences. Researchers use two main resources to answer this question: twins and samples of DNA. Studies of identical and non-identical twins are used to show the contributions of genes, shared environment, and non-shared environment to people’s differences in traits. Twin studies tell us that by adulthood, about two-thirds of intelligence differences are caused by how people vary in their genetic inheritance, and that both shared and non-shared environments make significant contributions to intelligence differences. The introduction of genome-wide association studies in 2011 has provided a new method of estimating the heritability of intelligence.

The genetics of axial spondyloarthritis

2016 ◽  
Author(s):  
Stefan Siebert ◽  
Sengupta Raj ◽  
Alexander Tsoukas
Keyword(s):  
Axial Spondyloarthritis ◽  
Association Studies ◽  
Single Gene ◽  
Twin Studies ◽  
Genome Wide Association Studies ◽  
Functional Importance ◽  
Unfolded Protein ◽  
Genome Wide ◽  
Arthritogenic Peptide ◽  
Protein Response

Family and twin studies have long suggested a large genetic component in ankylosing spondylitis (AS). The genetic association with HLA-B27 remains one of the strongest single gene variant associations reported in any complex polygenic disease. The exact mechanism by which HLA-B27 contributes to AS remains unknown, with three main theories proposed: the arthritogenic peptide, endoplasmic reticulum stress with unfolded protein response, and homodimerization theories. Genome-wide association studies have identified a number of other important susceptibility genes for AS, several of which overlap with other spondyloarthritis conditions. Of these, ERAP1 and IL-23R, are covered in more detail, highlighting their functional importance.

Audio-Vestibular Signs and Symptoms in Chiari Malformation Type I. Case Series and Literature Review

2015 ◽  
Vol 66 (1) ◽  
pp. 28-35 ◽  
Author(s):  
Gloria Guerra Jiménez ◽  
Ángel Mazón Gutiérrez ◽  
Enrique Marco de Lucas ◽  
Natalia Valle San Román ◽  
Rubén Martín Laez ◽  
...  
Keyword(s):  
Literature Review ◽  
Chiari Malformation ◽  
Case Series ◽  
Signs And Symptoms ◽  
Type I ◽  
Chiari Malformation Type I

scholarly journals A Brief Review of Genetic Approaches to the Study of Food Preferences: Current Knowledge and Future Directions

Nutrients ◽  
2019 ◽  
Vol 11 (8) ◽  
pp. 1735 ◽  
Author(s):  
Robino ◽  
Concas ◽  
Catamo ◽  
Gasparini
Keyword(s):  
Current Knowledge ◽  
Association Studies ◽  
Food Selection ◽  
Food Preferences ◽  
Twin Studies ◽  
Genome Wide Association Studies ◽  
Future Directions ◽  
Genome Wide ◽  
Assessment Approach ◽  
Candidate Gene Studies

Genetic variation plays a crucial role in individual differences in food preferences which ultimately influence food selection and health. Our current understanding of this pathway has been informed through twin studies (to assess the heritability of food preferences), candidate gene studies, and genome-wide association studies (GWAS). However, most of this literature is mainly focused on genes previously identified as having taste or smell functions. New data suggests that genes not associated with taste or smell perception may be involved in food preferences and contribute to health outcomes. This review highlights these emerging findings and suggests a polygenic risk assessment approach to explore new relationships between food preferences and health risks.

scholarly journals Efficient identification of context dependent subgroups of risk from genome-wide association studies

2014 ◽  
Vol 13 (2) ◽  
Author(s):  
Greg Dyson ◽  
Charles F. Sing
Keyword(s):  
Prediction Models ◽  
Disease Risk ◽  
Hypothesis Test ◽  
Association Studies ◽  
Genome Wide Association ◽  
Computational Time ◽  
Type I ◽  
Genome Wide Association Studies ◽  
Genomic Variations ◽  
Genome Wide

AbstractWe have developed a modified Patient Rule-Induction Method (PRIM) as an alternative strategy for analyzing representative samples of non-experimental human data to estimate and test the role of genomic variations as predictors of disease risk in etiologically heterogeneous sub-samples. A computational limit of the proposed strategy is encountered when the number of genomic variations (predictor variables) under study is large (>500) because permutations are used to generate a null distribution to test the significance of a term (defined by values of particular variables) that characterizes a sub-sample of individuals through the peeling and pasting processes. As an alternative, in this paper we introduce a theoretical strategy that facilitates the quick calculation of Type I and Type II errors in the evaluation of terms in the peeling and pasting processes carried out in the execution of a PRIM analysis that are under-estimated and non-existent, respectively, when a permutation-based hypothesis test is employed. The resultant savings in computational time makes possible the consideration of larger numbers of genomic variations (an example genome-wide association study is given) in the selection of statistically significant terms in the formulation of PRIM prediction models.

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