Trinucleotide (GAA)n repeat expansion in two families with Friedreich's ataxia with retained reflexes. Issue 6 (1st December 1997)

• Record Type: Journal Article
• Authors: Kellett, Mark W; Fletcher, Nicholas A; Wood, Nicholas; Enevoldson, T Peter
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 63:Issue 6(1997)
• Page Start: 780
• Page End: 783
• Publication Date: 1997-12-01
• Subjects: Friedreich's ataxia -- trinucleotide repeat -- retained reflexes -- cardiomyopathy; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.63.6.780
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : In occasional families in whom cases of classic Friedreich's ataxia (FRDA) coexist with affected cases with retained reflexes, linkage analysis has shown that both map to the FRDA locus on chromosome 9q13-21.1. A gene X25 has been identified within the critical region of the FRDA locus, and an intronic expanded GAA trinucleotide repeat has been found in most cases of FRDA. We report two further FRDA families in whom some patients with classic FRDA were areflexic whereas others had brisk reflexes. Molecular genetic analysis disclosed an abnormal trinucleotide repeat expansion within intron 1 of the FRDA gene in both phenotypes.