Mutation detection in an equivocal case of Friedreich's ataxia

Compound heterozygosity at the Friedreich's ataxia locus accounts for appro ximately 2% of molecularly confirmed cases. Genotype-phenotype correlation in this subgroup of patients reveals a spectrum of clinical variability. Th is report describes the clinical and molecular findings in a 6-year-old pat ient with Friedreich's ataxia who carried a pathologic GAA expansion of sim ilar to 1,000 repeats on one allele and a novel initiation codon point muta tion (3G-->A) on the other. (C) 2000 by Elsevier Science Inc. All rights re served.