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

被引：32

作者：

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

机构：

[1] Univ Federico II, Dept Neurol Sci, I-80131 Naples, Italy

[2] Univ Federico II, Dept Mol & Cellular Biol, I-80131 Naples, Italy

[3] Univ Federico II, Dept Pathol, I-80131 Naples, Italy

[4] Univ Federico II, Dept CEOS, I-80131 Naples, Italy

[5] Univ Policlin Messina, Dept Neurol, I-98125 Messina, Italy

来源：

JOURNAL OF NEUROLOGY | 1999年 / 246卷 / 05期

关键词：

Friedreich's ataxia; retained tendon reflexes; GAA expansion; sensory action potentials; somatosensory evoked potentials;

D O I：

10.1007/s004150050362

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：353 / 357

页数：5

共 23 条

[21] Broadened Friedreich's ataxia phenotype after gene cloning - Minimal GAA expansion causes late-onset spastic ataxia [J].