Related Experiment Video

Updated: Aug 11, 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

[Autosomal recessive cerebellar ataxias with oculomotor apraxia]

I Le Ber1, S Rivaud-Péchoux, A Brice

  • 1INSERM U679, Hôpital Pitié-Salpêtrière, Paris.

Revue Neurologique
|March 7, 2006
PubMed
Abstract

More Related Videos

Cerebellar Regional Dissection for Molecular Analysis08:51

Cerebellar Regional Dissection for Molecular Analysis

Published on: December 5, 2020

Lentiviral-Induced Striatal Pathology as a Preclinical Model of Polyglutamine Spinocerebellar Ataxias09:12

Lentiviral-Induced Striatal Pathology as a Preclinical Model of Polyglutamine Spinocerebellar Ataxias

Published on: March 13, 2026

Related Concept Videos

Genetic Lingo01:11

Genetic Lingo

Overview
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.
Pedigree Analysis01:35

Pedigree Analysis

Overview
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...