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Article Abstract
Background And Objectives: The number of GAA repeats in the gene is a major but not sole determinant of the clinical presentation of Friedreich ataxia (FRDA). The objective of this study was to establish whether the length of the GAA repeat tract in the gene, which is associated with another neurodegenerative disorder (SCA27B), affects the clinical presentation (age at onset, mFARS score) of patients with FRDA.
Methods: The number of GAA repeats in the and genes was determined using PCR in a cohort of 221 patients with FRDA. Next, we compared absolute lengths of the GAAs with GAAs, followed by correlative analyses to determine potential effects of GAA length on age at onset and clinical presentation (mFARS) of FRDA.
Results: We found no significant correlation between the size of the GAA repeats in and loci in our FRDA cohort. Moreover, the number of GAAs in did not affect the clinical presentation of FRDA even in a small number of cases where a long allele was present.
Discussion: Despite both molecular and clinical similarities between FRDA and SCA27B, the length of the GAA repeats in the gene, including potentially pathogenic alleles, did not influence the clinical presentation of FRDA.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11581763 | PMC |
| http://dx.doi.org/10.1212/NXG.0000000000200210 | DOI Listing |
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