Friedreich's ataxia presenting as adult-onset spastic paraparesis.
We have studied a man with an atypical form of Friedreich's ataxia (FRDA), who presented at age 26 years with a 2-year history of unsteadiness and clumsiness. The predominant feature of his initial neurological examination was a spastic paraparesis, along with a mild distal weakness and hyperreflexia of the upper limbs. He also displayed limb ataxia. Frataxin GAA repeat sizes were 1,040/690. This unusual FRDA presentation is not dissimilar to that of Acadian spastic ataxia.
Gates
P C
PC
Geelong Hospital, Australia.
Paris
D
D
Forrest
S M
SM
Williamson
R
R
Gardner
R J
RJ
D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D033862:Iron-Binding Proteins; D008297:Male; D009679:Nuclear Family; D020336:Paraparesis, Spastic / Q000175:diagnosis*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D012021:Reflex, Abnormal / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics; D000096923:Frataxin
D033862:Iron-Binding Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D000096923:Frataxin