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

You might also read

Related Articles

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

Sort by
Same author

Aspirin for cancer prevention in individuals with Lynch syndrome: first results from the CaPP3 multicentre, randomised, double-blind, non-inferiority trial.

The lancet. Gastroenterology & hepatology·2026
Same author

Neonate with 'rocker-bottom' feet: what to do when it is not Edwards syndrome.

Archives of disease in childhood. Education and practice edition·2026
Same author

Familial medullary thyroid carcinoma secondary to an <i>SLC30A9</i> intragenic deletion and translation reinitiation.

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

Multidisciplinary management of congenital ichthyosis with confetti: a case report of the clinical course and genetic diagnosis in a patient with a KRT10 mutation.

Clinical and experimental dermatology·2025
Same author

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics·2025
Same author

Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: results from EMBRACE.

Breast cancer research : BCR·2025

Related Experiment Video

Updated: Feb 9, 2026

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
07:33

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

Published on: May 21, 2010

37.3K

Spinocerebellar ataxias.

Bing-Wen Soong1, Patrick J Morrison2

  • 1Department of Neurology, National Yang-Ming University Faculty of Medicine and Taipei Veterans General Hospital, Taipei, Taiwan.

Handbook of Clinical Neurology
|June 13, 2018
PubMed
Summary

This chapter details over 40 autosomal dominant spinocerebellar ataxias (SCAs) and dentatorubral-pallidoluysian atrophy (DRPLA), covering their clinical and genetic features, presentations, and emerging therapeutic options.

Area of Science:

  • Neurogenetics
  • Neurology
  • Clinical Genetics

Background:

  • Over 40 autosomal dominant spinocerebellar ataxias (SCAs) have been identified.
  • Spinocerebellar ataxias (SCAs) and dentatorubral-pallidoluysian atrophy (DRPLA) are progressive neurodegenerative disorders.
Keywords:
DRPLAadultataxiaautosomal-dominantcerebellarpediatricspinocerebellartriplet repeat expansion

More Related Videos

Purification of Prominin-1+ Stem Cells from Postnatal Mouse Cerebellum
07:04

Purification of Prominin-1+ Stem Cells from Postnatal Mouse Cerebellum

Published on: April 12, 2020

6.3K
A Standardized Pipeline for Examining Human Cerebellar Grey Matter Morphometry using Structural Magnetic Resonance Imaging
11:50

A Standardized Pipeline for Examining Human Cerebellar Grey Matter Morphometry using Structural Magnetic Resonance Imaging

Published on: February 4, 2022

4.6K

Related Experiment Videos

Last Updated: Feb 9, 2026

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
07:33

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

Published on: May 21, 2010

37.3K
Purification of Prominin-1+ Stem Cells from Postnatal Mouse Cerebellum
07:04

Purification of Prominin-1+ Stem Cells from Postnatal Mouse Cerebellum

Published on: April 12, 2020

6.3K
A Standardized Pipeline for Examining Human Cerebellar Grey Matter Morphometry using Structural Magnetic Resonance Imaging
11:50

A Standardized Pipeline for Examining Human Cerebellar Grey Matter Morphometry using Structural Magnetic Resonance Imaging

Published on: February 4, 2022

4.6K