Hanna M G, Davis M B, Sweeney M G, Noursadeghi M, Ellis C J, Elliot P, Wood N W, Marsden C D
Department of Clinical Neurology, Institute of Neurology, Queen Square, London.
Mov Disord. 1998 Mar;13(2):339-40. doi: 10.1002/mds.870130223.
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.
最近，9号染色体p13区域上的弗里德赖希共济失调（FA）基因内含子1中的三核苷酸重复扩增已被确定为FA的遗传缺陷。我们发现了两名患者，他们在没有小脑体征的情况下表现出全身性舞蹈症，且该内含子1扩增为纯合子。舞蹈症作为FA的一种罕见表现，此前一直存在争议。这是首次报道确诊患有FA基因异常的患者出现舞蹈症，进一步拓宽了与FA基因型相关的临床表型。
