Friedreich's ataxia presenting as adult-onset spastic paraparesis

Journal Contribution ResearchOnline@JCU
Gates, Peter C.;Paris, Damien;Forrest, Susan M.;Williamson, Robert;McKinlay Gardner, R.J.
Damien Paris
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 1040/690. This unusual FRDA presentation is not dissimilar to that of Acadian spastic ataxia.

Journal

Neurogenetics

Publication Name

Neurogenetics

Volume

1

ISBN/ISSN

1364-6753

Edition

N/A

Issue

4

Pages Count

3

Location

N/A

Publisher

Springer

Publisher Url

N/A

Publisher Location

N/A

Publish Date

N/A

Url

N/A

Date

N/A

EISSN

N/A

DOI

10.1007/s100480050045