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

doi:10.1007/s004150050362

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

IRCCS Centro Neurolesi "Bonino Pulejo"

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	353-357
Number of pages	5
Journal	Journal of Neurology
Volume	246
Issue number	5
DOIs	https://doi.org/10.1007/s004150050362
Publication status	Published - 1999

Keywords

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

ASJC Scopus subject areas

Clinical Neurology
Neurology

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10.1007/s004150050362

Cite this

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, 246(5), 353-357. https://doi.org/10.1007/s004150050362

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

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title = "Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study",

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.",

keywords = "Friedreich's ataxia, GAA expansion, Retained tendon reflexes, Sensory action potentials, Somatosensory evoked potentials",

author = "Giovanni Coppola and {De Michele}, Giuseppe and Francesca Cavalcanti and Luigi Pianese and Anna Perretti and Lucio Santoro and Giuseppe Vita and Antonio Toscano and Marianna Amboni and Giacinta Grimaldi and Elena Salvatore and Giuseppe Caruso and Alessandro Filla",

year = "1999",

doi = "10.1007/s004150050362",

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T1 - Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study

AU - Coppola, Giovanni

AU - De Michele, Giuseppe

AU - Cavalcanti, Francesca

AU - Pianese, Luigi

AU - Perretti, Anna

AU - Santoro, Lucio

AU - Vita, Giuseppe

AU - Toscano, Antonio

AU - Amboni, Marianna

AU - Grimaldi, Giacinta

AU - Salvatore, Elena

AU - Caruso, Giuseppe

AU - Filla, Alessandro

PY - 1999

Y1 - 1999

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AB - 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.

KW - Friedreich's ataxia

KW - GAA expansion

KW - Retained tendon reflexes

KW - Sensory action potentials

KW - Somatosensory evoked potentials

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Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study

Abstract

Keywords

ASJC Scopus subject areas

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