Friedreich's ataxia: clinical heterogeneity in two sisters.
Diagnostic evaluation of two sisters affected by ataxia, with similar age of onset, revealed a characteristic trinucleotide expansion in the Friedreich's ataxia (FRDA) locus and two different phenotypic presentations. At onset the elder sister had retained deep tendon reflexes (FARR), while the younger sister presented classic FRDA. The GAA expansion in the patients' alleles proved to be similar in both siblings, ruling out that age at onset and clinical heterogeneity could be due to different FRDA mutations. On the whole, clinical and genetic data on these patients confirmed that FARR is a variant phenotype of FRDA.
Armani
M
M
Department of Neurosciences, Second Neurological Clinic, S. Antonio Hospital, University of Padova, Via Facciolati 71, I-35100, Padova, Italy. mario.armani@unipd.it
Zortea
M
M
Pastorello
E
E
Lombardi
S
S
Tonello
S
S
Zuliani
L
L
Rigoni
M T
MT
Trevisan
C P
CP
D000328:Adult; D017668:Age of Onset; D004252:DNA Mutational Analysis; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D033862:Iron-Binding Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D035781:Siblings; D019680:Trinucleotide Repeat Expansion; D000096923:Frataxin
D033862:Iron-Binding Proteins; D000096923:Frataxin