ArticleJournal of neurology1998
Determinants of onset age in Friedreich's ataxia.
Article in Journal of neurology, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Development of a secretable frataxin for enhanced efficacy in treating Friedreich's Ataxia.Molecular therapy. Advances · 2026Article
- Multi-Center National Study of Genotype-Phenotype Correlation and Clinical Characteristics in Children and Young Adults with Friedreich's Ataxia from Serbia.Biomedicines · 2025Article
- Assessment of the Clinical Interactions of GAA Repeat Expansions inNeurology. Genetics · 2024Article
- Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington's Disease.Journal of Huntington's disease · 2021Review
- The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia.Brain : a journal of neurology · 2020Article
- On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability.The Journal of biological chemistry · 2020Review
- Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2019Review
- Erythropoietin and Friedreich Ataxia: Time for a Reappraisal?Frontiers in neuroscience · 2019Review
- Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia.PloS one · 2018Article
- Very late-onset Friedreich ataxia: later than life expectancy?Journal of neurology · 2013Article
- Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia.PloS one · 2013Article
- Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2008Article
- Predictors of progression in patients with Friedreich ataxia.Movement disorders : official journal of the Movement Disorder Society · 2008Article
- A universal mechanism ties genotype to phenotype in trinucleotide diseases.PLoS computational biology · 2007Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
We studied the factors that might influence onset age in Friedreich's ataxia in 41 cases (20 male, 21 female) homozygous for GAA expansion on the first intron of X25 gene. Patients came from 18 multiplex families (13 couples, 5 triplets). Mean age (SD) was 18.1 (8.9) years and did not differ by gender. Onset age and the sizes of the smaller (GAA1) and the larger (GAA2) allele in each pair showed high intrafamily correlation. We found an inverse correlation between age at onset and GAA1 size, but not between age at onset and GAA2 size. Stepwise multiple regression of onset age on GAA1 size, sibling onset age, and GAA2 size showed that GAA1 accounts for 73% of onset age variance, and sibling onset age for an additional 13%. The study demonstrates that, in addition to GAA expansion size, other environmental or genetic familial factors influence disease expression.
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