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, Alessandro Filla

Research output: Contribution to journalArticle

29 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)353-357
Number of pages5
JournalJournal of Neurology
Volume246
Issue number5
DOIs
Publication statusPublished - 1999

Fingerprint

Friedreich Ataxia
Stretch Reflex
Left Ventricular Hypertrophy
Peripheral Nervous System Diseases
Vibration
Age of Onset
Lower Extremity
Alleles
Genes

Keywords

  • Friedreich's ataxia
  • GAA expansion
  • Retained tendon reflexes
  • Sensory action potentials
  • Somatosensory evoked potentials

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Coppola, G., De Michele, G., Cavalcanti, F., Pianese, L., Perretti, A., Santoro, L., ... Filla, A. (1999). Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study. Journal of Neurology, 246(5), 353-357. https://doi.org/10.1007/s004150050362

Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study. / Coppola, Giovanni; De Michele, Giuseppe; Cavalcanti, Francesca; Pianese, Luigi; Perretti, Anna; Santoro, Lucio; Vita, Giuseppe; Toscano, Antonio; Amboni, Marianna; Grimaldi, Giacinta; Salvatore, Elena; Caruso, Giuseppe; Filla, Alessandro.

In: Journal of Neurology, Vol. 246, No. 5, 1999, p. 353-357.

Research output: Contribution to journalArticle

Coppola, G, De Michele, G, Cavalcanti, F, Pianese, L, Perretti, A, Santoro, L, Vita, G, Toscano, A, Amboni, M, Grimaldi, G, Salvatore, E, Caruso, G & Filla, A 1999, 'Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study', Journal of Neurology, vol. 246, no. 5, pp. 353-357. https://doi.org/10.1007/s004150050362
Coppola, Giovanni ; De Michele, Giuseppe ; Cavalcanti, Francesca ; Pianese, Luigi ; Perretti, Anna ; Santoro, Lucio ; Vita, Giuseppe ; Toscano, Antonio ; Amboni, Marianna ; Grimaldi, Giacinta ; Salvatore, Elena ; Caruso, Giuseppe ; Filla, Alessandro. / Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study. In: Journal of Neurology. 1999 ; Vol. 246, No. 5. pp. 353-357.
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