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

Alterations in Muscle Tone ll01:12

Alterations in Muscle Tone ll

32
Alterations in muscle tone are common manifestations of neurological disorders and reflect dysfunction within different nervous system regions. Spasticity, paratonia, and dystonia represent distinct forms of hypertonia, each with unique mechanisms, clinical features, and diagnostic importance.CharacteristicsSpasticity happens from upper motor neuron lesions and is characterized by velocity-dependent resistance to passive movement. Clinical features include:Exaggerated deep tendon reflexesClonus...
32
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

37
Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
37
Human Genetics01:28

Human Genetics

2.0K
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...
2.0K
Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin01:26

Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin

2.2K
Directly acting muscle relaxants like dantrolene and botulinum toxin (BoNT) have distinct mechanisms and applications. Dantrolene, a hydantoin derivative, acts on the ryanodine receptor (RYR1) in skeletal muscle cells. RYR1 are calcium channels present at the sarcoplasmic reticulum membrane. In response to excitation, they release calcium ions from the sarcoplasmic reticulum to the cytosol. Calcium promotes actin-myosin-mediated contraction of muscles.
The binding of dantrolene to the RYR1...
2.2K
Incomplete Dominance01:43

Incomplete Dominance

19.2K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
19.2K
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

34
Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
34

You might also read

Related Articles

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

Sort by
Same author

Integrated Stress Response Signatures Drive Monocyte Dysfunction in GBA1- and LRRK2-Linked Parkinson's Disease.

Research square·2026
Same author

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.

American journal of human genetics·2025
Same author

Integrated Stress Response Signatures Drive Monocyte Dysfunction in <i>GBA1</i>- and <i>LRRK2</i>-Linked Parkinson's Disease.

medRxiv : the preprint server for health sciences·2025
Same author

Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.

medRxiv : the preprint server for health sciences·2025
Same author

Pathogenic Variants in <i>ATP1A3</i>: Why Is There So Much Confusion?

Neurology. Genetics·2025
Same author

Structural Alterations in the Gray Matter Volume in Rapid-Onset Dystonia-Parkinsonism.

Movement disorders : official journal of the Movement Disorder Society·2025
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
Same journal

Astrocytopathy in Wernicke Encephalopathy and Neuromyelitis Optica Spectrum Disorder. Pathogenic Differences With Occasional Clinical and Neuroimaging Overlap. A Review.

Current neurology and neuroscience reports·2026
Same journal

When is the Radiologically Isolated Syndrome already Multiple Sclerosis According to the 2024 McDonald Criteria?

Current neurology and neuroscience reports·2026
Same journal

Assessment and Management of Post-traumatic Headache.

Current neurology and neuroscience reports·2026
See all related articles

Related Experiment Video

Updated: May 6, 2026

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
10:41

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia

Published on: September 12, 2020

7.5K

Genetics in dystonia: an update.

Tania Fuchs1, Laurie J Ozelius

  • 1Department of Genetics and Genomic Sciences, Ichan School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA, tania.fuchs@mssm.edu.

Current Neurology and Neuroscience Reports
|October 19, 2013
PubMed
Summary
This summary is machine-generated.

Recent advances in genetics have identified four new dystonia genes using next-generation sequencing. This technology is revolutionizing the understanding of dystonia and its genetic underpinnings.

More Related Videos

Rapid Genotyping of Animals Followed by Establishing Primary Cultures of Brain Neurons
09:51

Rapid Genotyping of Animals Followed by Establishing Primary Cultures of Brain Neurons

Published on: January 29, 2015

16.0K
Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia
10:05

Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia

Published on: January 27, 2018

8.7K

Related Experiment Videos

Last Updated: May 6, 2026

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
10:41

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia

Published on: September 12, 2020

7.5K
Rapid Genotyping of Animals Followed by Establishing Primary Cultures of Brain Neurons
09:51

Rapid Genotyping of Animals Followed by Establishing Primary Cultures of Brain Neurons

Published on: January 29, 2015

16.0K
Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia
10:05

Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia

Published on: January 27, 2018

8.7K

Area of Science:

  • Genetics
  • Neurology
  • Genomic Medicine

Background:

  • Dystonia genetics research has seen significant progress in the past year.
  • Identification of new dystonia genes is crucial for understanding disease mechanisms.

Purpose of the Study:

  • To review newly identified dystonia genes and associated phenotypes.
  • To discuss the impact of next-generation sequencing on dystonia research.
  • To explore future applications of advanced sequencing technologies.

Main Methods:

  • Application of next-generation DNA sequencing for comprehensive genome assessment.
  • Combined use of next-generation and traditional Sanger sequencing.
  • Genetic analysis of patients with dystonia.

Main Results:

  • Identification of four novel dystonia genes: CIZ1, ANO3, GNAL, and TUBB4A.
  • Expansion of the known phenotypic spectrum for dystonia plus (ATP1A3) and paroxysmal (PRRT2) loci.
  • Demonstration of next-generation sequencing's efficacy in accelerating genetic discovery.

Conclusions:

  • Next-generation sequencing is a transformative technology in dystonia genetics.
  • New genetic discoveries are expanding our understanding of dystonia's diverse clinical presentations.
  • Future research will leverage advanced sequencing for further insights into dystonia pathogenesis.