Abstract
Of the syndromes constituting the inherited ataxias, some show autosomal dominant or recessive inheritance, and others are caused by mitochondrial mutations and thus show maternal inheritance. Significant progress has been made in defining the molecular basis of these syndromes, so that a genotype classification now supersedes previous ones based on clinical features alone.
Original language | English (US) |
---|---|
Title of host publication | Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease |
Subtitle of host publication | Fifth Edition |
Publisher | Elsevier Inc. |
Pages | 811-832 |
Number of pages | 22 |
ISBN (Electronic) | 9780124105294 |
ISBN (Print) | 9780124105492 |
DOIs | |
State | Published - Nov 13 2014 |
Keywords
- Ataxia
- CAG unstable DNA repeats
- Episodic ataxias
- Genotype classification
- Repeat expansion diseases
ASJC Scopus subject areas
- General Medicine