Tags

Type your tag names separated by a space and hit enter

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.
Mov Disord. 2008 Jul 15; 23(9):1303-6.MD

Abstract

Friedreich ataxia (FA) is an autosomal recessive disorder associated with expanded GAA repeats in intron 1 of the FRDA gene. Two siblings presented with a mild form of FA at >60 years of age. Both had a large expansion (>600 repeats) and a small expansion (120 repeats) by long-range PCR. Sequence analysis of the small allele revealed multiple, complex interruptions in the GAA repeat. These 2 patients presented later than predicted from their allele size alone, when compared with a large cohort of FA patients. Accounting for the interruptions in the GAA repeat, though, did not make the age of onset consistent with that noted in other patients. Three additional patients with late onset FA and small expanded alleles also exhibited interrupted GAA repeats that were not associated with inappropriately late onset. Our observations suggest that interrupted GAA repeats do not clearly impact the age of onset in FA.

Authors+Show Affiliations

The Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4318, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18464277

Citation

Stolle, Catherine A., et al. "Novel, Complex Interruptions of the GAA Repeat in Small, Expanded Alleles of Two Affected Siblings With Late-onset Friedreich Ataxia." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 23, no. 9, 2008, pp. 1303-6.
Stolle CA, Frackelton EC, McCallum J, et al. Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia. Mov Disord. 2008;23(9):1303-6.
Stolle, C. A., Frackelton, E. C., McCallum, J., Farmer, J. M., Tsou, A., Wilson, R. B., & Lynch, D. R. (2008). Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia. Movement Disorders : Official Journal of the Movement Disorder Society, 23(9), 1303-6. https://doi.org/10.1002/mds.22012
Stolle CA, et al. Novel, Complex Interruptions of the GAA Repeat in Small, Expanded Alleles of Two Affected Siblings With Late-onset Friedreich Ataxia. Mov Disord. 2008 Jul 15;23(9):1303-6. PubMed PMID: 18464277.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia. AU - Stolle,Catherine A, AU - Frackelton,Edward C, AU - McCallum,Jennifer, AU - Farmer,Jennifer M, AU - Tsou,Amy, AU - Wilson,Robert B, AU - Lynch,David R, PY - 2008/5/9/pubmed PY - 2009/1/13/medline PY - 2008/5/9/entrez SP - 1303 EP - 6 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 23 IS - 9 N2 - Friedreich ataxia (FA) is an autosomal recessive disorder associated with expanded GAA repeats in intron 1 of the FRDA gene. Two siblings presented with a mild form of FA at >60 years of age. Both had a large expansion (>600 repeats) and a small expansion (120 repeats) by long-range PCR. Sequence analysis of the small allele revealed multiple, complex interruptions in the GAA repeat. These 2 patients presented later than predicted from their allele size alone, when compared with a large cohort of FA patients. Accounting for the interruptions in the GAA repeat, though, did not make the age of onset consistent with that noted in other patients. Three additional patients with late onset FA and small expanded alleles also exhibited interrupted GAA repeats that were not associated with inappropriately late onset. Our observations suggest that interrupted GAA repeats do not clearly impact the age of onset in FA. SN - 1531-8257 UR - https://www.unboundmedicine.com/medline/citation/18464277/Novel_complex_interruptions_of_the_GAA_repeat_in_small_expanded_alleles_of_two_affected_siblings_with_late_onset_Friedreich_ataxia_ L2 - https://doi.org/10.1002/mds.22012 DB - PRIME DP - Unbound Medicine ER -