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Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion.
Mov Disord. 1998 Mar; 13(2):339-40.MD

Abstract

Recently, a trinucleotide repeat expansion in intron 1 of the frataxin gene on chromosome 9p13 has been identified as the genetic defect in Friedreich's ataxia (FA). We have identified two patients exhibiting generalized chorea in the absence of cerebellar signs who were homozygous for this intron 1 expansion. Chorea as a rare manifestation of FA has previously been controversial. This is the first report of chorea in patients confirmed to have the FA genetic abnormality and broadens further the clinical phenotype associated with the FA genotype.

Authors+Show Affiliations

Department of Clinical Neurology, Institute of Neurology, Queen Square, London.No affiliation info availableNo 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

Language

eng

PubMed ID

9539351

Citation

Hanna, M G., et al. "Generalized Chorea in Two Patients Harboring the Friedreich's Ataxia Gene Trinucleotide Repeat Expansion." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 13, no. 2, 1998, pp. 339-40.
Hanna MG, Davis MB, Sweeney MG, et al. Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion. Mov Disord. 1998;13(2):339-40.
Hanna, M. G., Davis, M. B., Sweeney, M. G., Noursadeghi, M., Ellis, C. J., Elliot, P., Wood, N. W., & Marsden, C. D. (1998). Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion. Movement Disorders : Official Journal of the Movement Disorder Society, 13(2), 339-40.
Hanna MG, et al. Generalized Chorea in Two Patients Harboring the Friedreich's Ataxia Gene Trinucleotide Repeat Expansion. Mov Disord. 1998;13(2):339-40. PubMed PMID: 9539351.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion. AU - Hanna,M G, AU - Davis,M B, AU - Sweeney,M G, AU - Noursadeghi,M, AU - Ellis,C J, AU - Elliot,P, AU - Wood,N W, AU - Marsden,C D, PY - 1998/4/16/pubmed PY - 1998/4/16/medline PY - 1998/4/16/entrez SP - 339 EP - 40 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 13 IS - 2 N2 - Recently, a trinucleotide repeat expansion in intron 1 of the frataxin gene on chromosome 9p13 has been identified as the genetic defect in Friedreich's ataxia (FA). We have identified two patients exhibiting generalized chorea in the absence of cerebellar signs who were homozygous for this intron 1 expansion. Chorea as a rare manifestation of FA has previously been controversial. This is the first report of chorea in patients confirmed to have the FA genetic abnormality and broadens further the clinical phenotype associated with the FA genotype. SN - 0885-3185 UR - https://www.unboundmedicine.com/medline/citation/9539351/Generalized_chorea_in_two_patients_harboring_the_Friedreich's_ataxia_gene_trinucleotide_repeat_expansion_ L2 - https://doi.org/10.1002/mds.870130223 DB - PRIME DP - Unbound Medicine ER -