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Related Concept Videos

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Disorders of the Nervous Tissue01:28

Disorders of the Nervous Tissue

Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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Related Experiment Video

Updated: May 25, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

Genetic testing for neurologic disorders.

Susanne A Schneider1, Uwe H Schneider, Christine Klein

  • 1Schilling Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck, Lübeck, Germany. susanne.schneider@neuro.uni-luebeck.de

Seminars in Neurology
|January 24, 2012
PubMed
Summary

Genetic testing advances offer new insights into diseases but raise legal and ethical questions. This review covers genetic testing for movement disorders, addressing implications for patients and families.

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Published on: June 15, 2011

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Last Updated: May 25, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Area of Science:

  • Genetics
  • Neurology
  • Bioethics

Background:

  • Advances in genetic research and technology have led to increased genetic data and identification of new diseases.
  • Wider availability of genetic testing necessitates regulation of genetic technology and information use.
  • Rapid developments in genetics can create uncertainty for individuals undergoing testing.

Purpose of the Study:

  • To review the current landscape of genetic testing, with a specific focus on movement disorders.
  • To clarify key genetic terminology and concepts relevant to testing.
  • To discuss the broad implications of genetic testing, including social, ethical, and legal aspects.

Main Methods:

  • Review of current literature on genetic testing and movement disorders.
  • Explanation of fundamental genetic concepts (e.g., inheritance patterns, penetrance).
  • Discussion of various testing types, including direct-to-consumer options.

Main Results:

  • Genetic testing provides valuable data for diagnosing and understanding movement disorders.
  • Understanding genetic concepts is crucial for appropriate test indication and interpretation.
  • Legal and ethical considerations, such as discrimination and data protection, are significant.

Conclusions:

  • Genetic testing, particularly for movement disorders, requires careful consideration of its technical, social, ethical, and legal dimensions.
  • Navigating the complexities of genetic information and testing is essential for informed decision-making.
  • Ongoing research and regulatory efforts are needed to address the challenges posed by genetic advancements.