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 | |
| Publication status | Published - 1999 |
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Keywords
- Friedreich's ataxia
- GAA expansion
- Retained tendon reflexes
- Sensory action potentials
- Somatosensory evoked potentials
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
Cite this
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 journal › Article
}
TY - JOUR
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
N2 - 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.
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
UR - http://www.scopus.com/inward/record.url?scp=0032977978&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0032977978&partnerID=8YFLogxK
U2 - 10.1007/s004150050362
DO - 10.1007/s004150050362
M3 - Article
C2 - 10399865
AN - SCOPUS:0032977978
VL - 246
SP - 353
EP - 357
JO - Journal of Neurology
JF - Journal of Neurology
SN - 0340-5354
IS - 5
ER -