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Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion.
Mov Disord. 2002 May; 17(3):585-9.MD

Abstract

Friedreich's ataxia (FRDA) is the most common hereditary ataxia, affecting about 1 in 50,000 individuals. It is caused by mutations in the frataxin gene; 98% of cases have homozygous expansions of a GAA trinucleotide in intron 1 of the frataxin gene. The remaining 2% of patients are compound heterozygotes, who have a GAA repeat expansion in one allele and a point mutation in the other allele. FRDA patients with point mutation have been suggested to have atypical clinical features. We present a case of compound heterozygotes in a FRDA patient who has a deletion of one T in the start codon (ATG) of the frataxin gene and a GAA repeat expansion in the other allele. The patient presented with chorea and subsequently developed FRDA symptoms. The disease in this case is the result of both a failure of initiation of translation and the effect of the expansion. This novel mutation extends the range of point mutations seen in FRDA patients, and also broadens the spectrum of FRDA genotype associated with chorea.

Authors+Show Affiliations

Neurobiology Department, ANZAC Research Institute, University of Sydney, Concord Hospital, Concord, NSW, Australia. danqing@med.usyd.edu.auNo 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

12112211

Citation

Zhu, Danqing, et al. "Friedreich's Ataxia With Chorea and Myoclonus Caused By a Compound Heterozygosity for a Novel Deletion and the Trinucleotide GAA Expansion." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 17, no. 3, 2002, pp. 585-9.
Zhu D, Burke C, Leslie A, et al. Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion. Mov Disord. 2002;17(3):585-9.
Zhu, D., Burke, C., Leslie, A., & Nicholson, G. A. (2002). Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion. Movement Disorders : Official Journal of the Movement Disorder Society, 17(3), 585-9.
Zhu D, et al. Friedreich's Ataxia With Chorea and Myoclonus Caused By a Compound Heterozygosity for a Novel Deletion and the Trinucleotide GAA Expansion. Mov Disord. 2002;17(3):585-9. PubMed PMID: 12112211.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion. AU - Zhu,Danqing, AU - Burke,Christopher, AU - Leslie,Anthony, AU - Nicholson,Garth A, PY - 2002/7/12/pubmed PY - 2002/9/17/medline PY - 2002/7/12/entrez SP - 585 EP - 9 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 17 IS - 3 N2 - Friedreich's ataxia (FRDA) is the most common hereditary ataxia, affecting about 1 in 50,000 individuals. It is caused by mutations in the frataxin gene; 98% of cases have homozygous expansions of a GAA trinucleotide in intron 1 of the frataxin gene. The remaining 2% of patients are compound heterozygotes, who have a GAA repeat expansion in one allele and a point mutation in the other allele. FRDA patients with point mutation have been suggested to have atypical clinical features. We present a case of compound heterozygotes in a FRDA patient who has a deletion of one T in the start codon (ATG) of the frataxin gene and a GAA repeat expansion in the other allele. The patient presented with chorea and subsequently developed FRDA symptoms. The disease in this case is the result of both a failure of initiation of translation and the effect of the expansion. This novel mutation extends the range of point mutations seen in FRDA patients, and also broadens the spectrum of FRDA genotype associated with chorea. SN - 0885-3185 UR - https://www.unboundmedicine.com/medline/citation/12112211/Friedreich's_ataxia_with_chorea_and_myoclonus_caused_by_a_compound_heterozygosity_for_a_novel_deletion_and_the_trinucleotide_GAA_expansion_ L2 - https://doi.org/10.1002/mds.10175 DB - PRIME DP - Unbound Medicine ER -