Related Experiment Video
Updated: Jun 23, 2026
07:33
A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
[Autosomal recessive cerebellar ataxias]
Christine Tranchant1, Mathieu Anheim
1Clinique neurologique, Hôpitaux universitaires, F-67091 Strasbourg Cedex, France. christine.tranchant@chru-strasbourg.fr
Presse Medicale (Paris, France : 1983)
|May 16, 2009
Summary
Friedreich ataxia is the most common cause of recessive cerebellar ataxia. Early diagnosis through neurological signs and specific biological tests is crucial for effective management.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Context:
- Friedreich ataxia is the most frequent inherited form of recessive cerebellar ataxia.
- Differential diagnosis of cerebellar ataxias involves identifying specific treatable conditions.
- Neurological signs and advanced diagnostics aid in etiological determination.
Purpose:
- To outline the diagnostic approach for recessive cerebellar ataxias.
- To highlight key clinical and biological markers for etiological diagnosis.
- To emphasize the importance of investigating Friedreich ataxia first.
Summary:
- Friedreich ataxia is the most common recessive cerebellar ataxia and warrants initial investigation.
- Associated neurological findings (polyneuropathy, ophthalmologic signs, pyramidal signs) and cerebellar MRI are key diagnostic clues.
- Essential biological tests include vitamin E, cholesterol, alpha-fetoprotein, acanthocytes, phytanic acid, cholestanol, and lysosomal enzymes.
Impact:
- Facilitates timely diagnosis and treatment for patients with specific ataxias like vitamin E deficiency.
- Improves diagnostic yield in cases of unexplained autosomal recessive cerebellar ataxia.
- Provides a structured framework for clinicians managing patients with cerebellar ataxia.
Related Concept Videos
01:35Pedigree Analysis
Overview
01:11Genetic Lingo
Overview
01:43Incomplete Dominance
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.
01:28Major Somatic Sensory Pathways
Sensory impulses related to touch, pressure, vibration, and proprioception from various body parts, such as the limbs, trunk, neck, and posterior head, travel to the cerebral cortex through the posterior column-medial lemniscus pathway. The pathway’s name derives from the two white-matter tracts that convey the impulses: the spinal cord's posterior column and the brainstem's medial lemniscus. First-order sensory neurons extend their axons into the spinal cord, forming the posterior columns...
01:43Sex-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.
01:21Huntington 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,...