Related Experiment Video
Updated: Jun 17, 2026
08:51
Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
Autosomal recessive ataxias: 20 types, and counting.
Emília Katiane Embiruçu1, Marcília Lima Martyn, David Schlesinger
1Outpatient Neurogenetics Clinic, Hospital das Clínicas, School of Medicine, University of São Paulo, São Paulo, SP, Brazil.
Arquivos De Neuro-Psiquiatria
|January 14, 2010
Summary
Autosomal recessive ataxias are complex neurogenetic disorders with over 20 types. Early diagnosis is crucial as many are treatable, guiding practitioners with clinical and diagnostic insights.
Area of Science:
- Neurogenetics
- Neurology
- Rare Diseases
Background:
- Friedreich ataxia, first described over 140 years ago, highlights the complexity of autosomal recessive ataxias.
- This group encompasses over 20 distinct clinical entities, each associated with numerous genes.
- These rare neurological disorders vary in prevalence, from isolated populations to worldwide distribution.
Purpose of the Study:
- To provide an updated review of clinical and pathophysiological aspects of autosomal recessive ataxias.
- To present a diagnostic algorithm for practitioners managing these complex neurogenetic conditions.
Main Methods:
- Literature review of clinical and genetic data on autosomal recessive ataxias.
- Development of a diagnostic algorithm based on current knowledge.
Main Results:
- Detailed overview of over 20 identified autosomal recessive ataxia entities.
- Discussion of the genetic heterogeneity and varying prevalence of these conditions.
- Emphasis on the treatable nature of a significant number of these ataxias.
Conclusions:
- Accurate and timely diagnosis of autosomal recessive ataxias is critical due to their treatable nature.
- The provided algorithm aims to assist practitioners in navigating the diagnostic challenges of these disorders.
- Continued research is essential for understanding and managing the expanding landscape of neurogenetic ataxias.
Related Concept Videos
01:35Pedigree Analysis
Overview
01:22Epilepsy ll: Types
Recurrent seizures, stemming from abnormal electrical activity in the brain, are the defining characteristic of epilepsy, a chronic neurological condition. Because seizure features vary greatly, epilepsy is classified using two systems: by seizure type and by epilepsy syndromes. These classifications enable clinicians to describe seizure patterns and select suitable treatment strategies.I. Classification by Seizure Type1. Focal EpilepsyFocal epilepsy begins in one hemisphere of the brain.
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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.
01:11Genetic 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.