Friedreich's ataxia presenting as adult-onset spastic paraparesis

Neurogenetics. 1998 Aug;1(4):297-9. doi: 10.1007/s100480050045.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Diagnosis, Differential
  • Frataxin
  • Friedreich Ataxia / diagnosis*
  • Friedreich Ataxia / genetics*
  • Humans
  • Iron-Binding Proteins*
  • Male
  • Nuclear Family
  • Paraparesis, Spastic / diagnosis*
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Reflex, Abnormal / genetics
  • Trinucleotide Repeats / genetics

Substances

  • Iron-Binding Proteins
  • Phosphotransferases (Alcohol Group Acceptor)