[Friedrich's ataxia: clinical difficulties and genetic possibilities].
Atypical Friedreich's ataxia was diagnosed by DNA-analysis in 4 patients, 2 men aged 70 and 67 and 2 women aged 32 and 37, who had features that included an onset of ataxia after the age of 25, retained tendon reflexes or hyperreflexia, absence of Babinski's sign, and/or a slowly progressive course. Friedreich's ataxia is the most frequent autosomal recessive cerebellar ataxia. Classical characteristics of the disease are a progressive cerebellar ataxia with an onset before the age of 25, loss of lower extremity tendon reflexes, and bilateral Babinski's sign. However, DNA-diagnostic testing based upon the detection of expanded GAA-repeats in the X25-gene, has shown that the clinical spectrum is broader than was previously assumed.
van de Warrenburg
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Afd. Neurologie, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen. b.vandewarrenburg@czzoneu.azn.nl
Knoers
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Kremer
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D000328:Adult; D017668:Age of Onset; D000368:Aged; D018450:Disease Progression; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D001405:Reflex, Babinski; D019680:Trinucleotide Repeat Expansion