Journal of Neurology

, Volume 246, Issue 5, pp 353–357

Why do some Friedreich’s ataxia patients retain tendon reflexes?

A clinical, neurophysiological and molecular study
  • Giovanni Coppola
  • Giuseppe De Michele
  • Francesca Cavalcanti
  • Luigi Pianese
  • Anna Perretti
  • Lucio Santoro
  • Giuseppe Vita
  • Antonio Toscano
  • Marianna Amboni
  • Giacinta Grimaldi
  • Elena Salvatore
  • Giuseppe Caruso
  • A. Filla
Original communication

DOI: 10.1007/s004150050362

Cite this article as:
Coppola, G., De Michele, G., Cavalcanti, F. et al. J Neurol (1999) 246: 353. doi:10.1007/s004150050362

Abstract

Among 101 patients homozygous for GAA expansion within the X25 gene, 11 from 8 families had Friedreich’s ataxia with retained reflexes in the lower limbs (FARR). These patients had a lower occurrence of decreased vibration sense, pes cavus, and echocardiographic signs of left ventricular hypertrophy than the 90 FA patients with areflexia. The mean age at onset was significantly later (26.6 ± 11.4 vs. 14.2 ± 6.9 years), and the mean size of the smaller allele was significantly less (408 ± 252 vs. 719 ± 184 GAA triplets) in FARR patients. The neurophysiological findings were consistent with milder peripheral neuropathy and milder impairment of the somatosensory pathways in FARR patients.

Key words Friedreich’s ataxiaRetained tendon reflexesGAAexpansionSensory action potentialsSomatosensory evoked potentials

Copyright information

© Steinkopff Verlag 1999

Authors and Affiliations

  • Giovanni Coppola
    • 1
  • Giuseppe De Michele
    • 1
  • Francesca Cavalcanti
    • 3
  • Luigi Pianese
    • 3
  • Anna Perretti
    • 2
  • Lucio Santoro
    • 2
  • Giuseppe Vita
    • 4
  • Antonio Toscano
    • 4
  • Marianna Amboni
    • 1
  • Giacinta Grimaldi
    • 2
  • Elena Salvatore
    • 2
  • Giuseppe Caruso
    • 1
  • A. Filla
    • 1
  1. 1.e-mail: afilla@unina.it, Fax: +39-081-5461541
  2. 2.Department of Neurological Sciences, Università Federico II, via Pansini 5, I-80131 Napoli, ItalyIT
  3. 3.Department of Molecular and Cellular Biology and Pathology and CEOS, Università Federico II, via Pansini 5, I-80131 Napoli, ItalyIT
  4. 4.Department of Neurology, Policlinico Universitatio, University of Messina, I-98125 Messina, ItalyIT