Format

Send to

Choose Destination
Mov Disord. 1998 Mar;13(2):339-40.

Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion.

Author information

1
Department of Clinical Neurology, Institute of Neurology, Queen Square, London.

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.

PMID:
9539351
DOI:
10.1002/mds.870130223
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center