Why do some Friedreich’s ataxia patients retain tendon reflexes?
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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.
- Why do some Friedreich’s ataxia patients retain tendon reflexes?
Journal of Neurology
Volume 246, Issue 5 , pp 353-357
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- Online ISSN
- Steinkopff Verlag
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- Key words Friedreich’s ataxia
- Retained tendon reflexes
- Sensory action potentials
- Somatosensory evoked potentials
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- Author Affiliations
- A1. e-mail: firstname.lastname@example.org, Fax: +39-081-5461541,
- A3. Department of Molecular and Cellular Biology and Pathology and CEOS, Università Federico II, via Pansini 5, I-80131 Napoli, Italy, IT
- A2. Department of Neurological Sciences, Università Federico II, via Pansini 5, I-80131 Napoli, Italy, IT
- A4. Department of Neurology, Policlinico Universitatio, University of Messina, I-98125 Messina, Italy, IT