Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11 : evidence for further locus heterogeneity

• Published in: Neurogenetics Vol. 3; no. 3; pp. 127 - 132
• Main Authors: CHRISTODOULOU, Kyproula, DEYMEER, Feza, SERDAROGLU, Piraye, ÖZDEMIR, Coskun, PODA, Mehves, GEORGIOU, Domna-Maria, IOANNOU, Panos, TSINGIS, Marios, ZAMBA, Eleni, MIDDLETON, Lefkos T
• Format: Journal Article
• Language: English
• Published: Berlin Springer 01.07.2001; Springer Nature B.V
• Subjects: Adult; Ataxia; Biological and medical sciences; Chromosome Mapping; Chromosomes, Human, Pair 9; Consanguinity; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Friedreich Ataxia - genetics; Genes; Genetics; Haplotypes; Humans; Male; Medical sciences; Neurology; Pedigree; Phenotype; Trinucleotide Repeats; Tropical medicine; Human; Short arm; Cartography; Nervous system diseases; Family study; Genetic determinism; Chromosome C9; Cerebral disorder; Genetic disease; Heterogeneity; Central nervous system disease; Degenerative disease; Consanguinity; Friedreich ataxia; Locus; Spinal cord disease
• ISSN: 1364-6745; 1364-6753
• DOI: 10.1007/s100480100112

Friedreich's ataxia (FRDA), the most-common form of autosomal recessive ataxia, is inherited in most cases by a large expansion of a GAA triplet repeat in the first intron of the frataxin (X25) gene. Genetic heterogeneity in FRDA has been previously reported in typical FRDA families that do not link to the FRDA locus on chromosome 9q13. We report localization of a second FRDA locus (FRDA2) to chromosome 9p23-9p11, and we provide evidence for further genetic heterogeneity of the disease, in a family with the classic FRDA phenotype.