[Have centers of rare neurological diseases changed their practices and management of the hereditary cerebellar ataxias?].

Abstract

The classification and management of hereditary cerebellar ataxias have been considerably changed by advances made in the field of genetics. Given the numerous genes implicated in the disorders, genetic analysis, which alone can confirm the diagnosis, needs to be based on phenotypically precise studies. Diagnostic algorithms including both recessive and dominant forms of ataxia have been proposed. The range of disease effects has been further expanded in the light of evidence of ataxias associated with permutations of the Fragile X gene, and ataxias linked to mutations of the nuclear genes coding for structural proteins of mitochondrial DNA. In the field of therapeutics, several studies are currently ongoing for Friedreich's ataxia.

• Authors: C Tranchant
• Journal: Revue neurologique (Rev Neurol (Paris)) Vol. 169 Suppl 1 Pg. S23-7 (Feb 2013) ISSN: 0035-3787 [Print] France
• Vernacular Title: Les centres maladies rares en neurologie ont-ils changé les pratiques et la prise en charge dans les ataxies cérebelleuses héréditaires?
• PMID: 23452767 (Publication Type: English Abstract, Journal Article, Review)
• Copyright: Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Chemical References

• DNA

Topics

• Algorithms
• Cerebellar Ataxia (classification, diagnosis, genetics, therapy)
• DNA (genetics)
• Fragile X Syndrome (genetics)
• France
• Genes, Dominant (genetics)
• Genes, Recessive (genetics)
• Government Agencies
• Humans
• Mitochondrial Encephalomyopathies (genetics, pathology)
• Nervous System Diseases (classification, therapy)
• Rare Diseases (classification, therapy)