Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

932
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
932
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

2.0K
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
2.0K
Sex-linked Disorders01:43

Sex-linked Disorders

109.5K
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.
109.5K
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

540
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
540
Genetic Lingo01:11

Genetic Lingo

115.6K
Overview
115.6K
Human Genetics01:28

Human Genetics

1.7K
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...
1.7K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A novel GNAO1 variant associated with variable and mild phenotypes in a Spanish family.

Journal of movement disorders·2026
Same author

Movement disorders in GLUT1 deficiency syndrome: a systematic review of the literature.

Journal of neurology·2026
Same author

Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort.

medRxiv : the preprint server for health sciences·2026
Same author

<i>GCH1</i> p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations.

medRxiv : the preprint server for health sciences·2026
Same author

Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.

EBioMedicine·2026
Same author

Long-term response to deep brain stimulation of the globus pallidus internus in a patient of African origin with a homozygous DYT-AOPEP variant.

Parkinsonism & related disorders·2026
Same journal

Update on Genetic Chorea.

Current neurology and neuroscience reports·2026
Same journal

Gastrointestinal Dysfunction in Critically Ill Patients With Traumatic Brain Injury: Clinical Implications and Putative Mechanisms: a Narrative Review.

Current neurology and neuroscience reports·2026
Same journal

The Potential of Rehabilitation to Amplify Experience-Induced Myelin Plasticity and Remyelination in Multiple Sclerosis: A Narrative Review.

Current neurology and neuroscience reports·2026
Same journal

The Noradrenergic Brain in Parkinson's Disease.

Current neurology and neuroscience reports·2026
Same journal

Mapping the Silent Onset of Parkinson's Disease: Monoamine Imaging in the Era of the Race for Preclinical Intervention.

Current neurology and neuroscience reports·2026
Same journal

Functional and Structural Brain Imaging Correlates of Treatment Response in Functional Movement Disorder.

Current neurology and neuroscience reports·2026
See all related articles

Related Experiment Video

Updated: Feb 19, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K

Emerging Monogenic Complex Hyperkinetic Disorders.

Miryam Carecchio1,2,3, Niccolò E Mencacci4,5

  • 1Molecular Neurogenetics Unit, IRCCS Foundation Carlo Besta Neurological Institute, Via L. Temolo 4, 20126, Milan, Italy.

Current Neurology and Neuroscience Reports
|November 1, 2017
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing (NGS) is identifying new genetic causes for hyperkinetic movement disorders. These genetic discoveries are improving diagnoses and revealing shared pathways with other neurodevelopmental conditions.

Keywords:
EpilepsyGeneticsHyperkineticMovement disordersNext-generation sequencing

More Related Videos

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Na&#239;ve Adolescents at High Risk for Psychosis
05:52

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis

Published on: November 21, 2013

15.6K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.3K

Related Experiment Videos

Last Updated: Feb 19, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K
Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Na&#239;ve Adolescents at High Risk for Psychosis
05:52

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis

Published on: November 21, 2013

15.6K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.3K

Area of Science:

  • Neurogenetics
  • Movement Disorders
  • Neurodevelopmental Disorders

Background:

  • Hyperkinetic movement disorders present as isolated conditions or complex phenotypes.
  • Next-generation sequencing (NGS) is rapidly expanding the identification of monogenic causes for these disorders.

Purpose of the Study:

  • To review the main features of newly identified monogenic complex movement disorders.
  • To highlight the impact of NGS on diagnosing these conditions.

Main Methods:

  • Literature review of recent findings in the field of hyperkinetic movement disorders.
  • Focus on genetic studies utilizing next-generation sequencing.

Main Results:

  • Mutations in ADCY5, PDE10A, and KMT2B are key causes of childhood-onset dyskinesias and complex dystonia.
  • Genetic overlap exists between hyperkinetic disorders, epileptic encephalopathies, and developmental delay.
  • NGS has elucidated the etiology of many complex hyperkinetic movement disorders.

Conclusions:

  • NGS is transforming the diagnostic approach for complex hyperkinetic movement disorders.
  • Shared molecular pathways in brain development and synaptic transmission link basal ganglia dysfunction, epilepsy, and neurodevelopmental disorders.