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

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...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

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...
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

You might also read

Related Articles

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

Sort by
Same author

"Alkaline-Hammer Strategy" Breaks Acidic and Stromal Barriers to Induce Alkaliptosis and Enhance Immunotherapy in Pancreatic Cancer.

Angewandte Chemie (International ed. in English)Ā·2026
Same author

Elevated glucose-to-platelet ratio predicts short- term and long-term mortality in critically ill patients with acute ischemic stroke.

Scientific reportsĀ·2026
Same author

Enhancing interpretable soft sensing with embedded hybrid modeling: the GraphTrans approach for industrial processes.

ISA transactionsĀ·2026
Same author

Differential distribution of microplastics in breast cancer and peritumoral tissues and relationship with clinical characteristics.

Apoptosis : an international journal on programmed cell deathĀ·2026
Same author

Tumour-infiltrating adipocyte-derived 12,13-DiHOME subverts CD8<sup>+</sup> T cell immunity in pancreatic ductal adenocarcinoma by promoting PPARĪ³-mediated ferritinophagy and tumour-associated neutrophil ferroptosis.

GutĀ·2026
Same author

Gut Microbiota Regulates Systemic Inflammatory Response and Compensatory Anti-Inflammatory Response Syndromes by Targeting PF4<sup>+</sup> Macrophages in Acute Pancreatitis.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)Ā·2026

Related Experiment Video

Updated: Jul 10, 2026

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

Localization and mutation detection for paroxysmal kinesigenic choreoathetosis.

Te Du1, Bin Feng, Xin Wang

  • 1National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, 5 Dongdan 3 Tiao, Beijing 100005, China.

Journal of Molecular Neuroscience : MN
|October 24, 2007
PubMed
Summary

Researchers identified a chromosomal region linked to paroxysmal kinesigenic choreoathetosis (PKC), an inherited movement disorder. The study ruled out CACNG3, IL4R, and ABCC11 as causative genes for PKC.

More Related Videos

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

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Related Experiment Videos

Last Updated: Jul 10, 2026

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

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

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal-dominant movement disorder.
  • Characterized by sudden, involuntary movements, the genetic basis of PKC remains unknown.

Purpose of the Study:

  • To pinpoint the chromosomal region associated with PKC.
  • To identify the specific gene mutation responsible for the disorder.

Main Methods:

  • Recruited a family with 16 members affected by PKC.
  • Utilized microsatellite markers on chromosome 16 for genotyping and linkage analysis.
  • Screened candidate genes CACNG3, IL4R, and ABCC11 using PCR-based methods.

Main Results:

  • Linkage analysis indicated a critical region on chromosome 16p12.1-q13.
  • Haplotype analysis strongly associated a specific marker haplotype with PKC.
  • No mutations were found in the candidate genes CACNG3, IL4R, and ABCC11.

Conclusions:

  • The causative gene for PKC is localized to a 19.34 cM region on chromosome 16p12.1-q13.
  • CACNG3, IL4R, and ABCC11 are excluded as the genes responsible for PKC in this family.