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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1994 Jun;54(6):959–965.

Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.

C Jodice 1, P Malaspina 1, F Persichetti 1, A Novelletto 1, M Spadaro 1, P Giunti 1, C Morocutti 1, L Terrenato 1, A E Harding 1, M Frontali 1
PMCID: PMC1918191  PMID: 8198139

Abstract

Trinucleotide repeat expansion has been found in 64 subjects from 19 families: 57 patients with SCA1 and 7 subjects predicted, by haplotype analysis, to carry the mutation. Comparison with a large set of normal chromosomes shows two distinct distributions, with a much wider variation among expanded chromosomes. The sex of transmitting parent plays a major role in the size distribution of expanded alleles, those with > 54 repeats being transmitted by affected fathers exclusively. Our data suggest that alleles with > 54 repeats have a reduced chance of survival; these appear to be replaced in each generation by further expansion of alleles in the low- to medium-expanded repeat range, preferentially in male transmissions. Detailed clinical follow-up of a subset of our patients demonstrates significant relationships between increasing repeat number on expanded chromosomes and earlier age at onset, faster progression of the disease, and earlier age at death.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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