Open AccessExonic Deletions of FXN and Early-Onset Friedreich Ataxia
Author(s) -
Mathieu Anheim,
LouiseLaure Mariani,
Patrick Calvas,
Emmanuel Cheuret,
Fabien Zagnoli,
Sylvie Odent,
Claire Seguela,
Cécilia Marelli,
M. Fritsch,
JeanPierre Delaunoy,
Alexis Brice,
Alexandra Dürr,
Michel Kœnig
Publication year - 2012
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneurol.2011.834
Subject(s) - ataxia , exon , trinucleotide repeat expansion , mutation , point mutation , compound heterozygosity , genetics , biology , medicine , age of onset , gene , gastroenterology , microbiology and biotechnology , disease , allele , neuroscience
Friedreich ataxia (FA) is the most frequent type of autosomal recessive cerebellar ataxia, occurring at a mean age of 16 years. Nearly 98% of patients with FA present with homozygous GAA expansions in the FXN gene. The remaining patients are compound heterozygous for an expansion and a point mutation. Patients who are compound heterozygous for an exonic deletion and an expansion are exquisitely rare.
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