The authors describe the clinical, biochemical, electrophysiological and ultrastructural study of a case of Refsum's disease whose phenotype suggested other hereditary ataxias. Due to the presence of Babinski sign and optic atrophy and the absence of retinitis pigmentosa, this case can be considered atypical. Electrophysiological and ultrastructural findings confirm the variability of peripheral lesions in this hereditary polyneuropathy.

Dotti, M., Rossi, A., Rizzuto, N., Hayek, G., Bardelli, N., Bardelli, A.M., et al. (1985). Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study. EUROPEAN NEUROLOGY, 24(2), 85-93 [10.1159/000115767].

Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study

Dotti, M.;Rossi, A.;Federico, A.
1985-01-01

Abstract

The authors describe the clinical, biochemical, electrophysiological and ultrastructural study of a case of Refsum's disease whose phenotype suggested other hereditary ataxias. Due to the presence of Babinski sign and optic atrophy and the absence of retinitis pigmentosa, this case can be considered atypical. Electrophysiological and ultrastructural findings confirm the variability of peripheral lesions in this hereditary polyneuropathy.
1985
Dotti, M., Rossi, A., Rizzuto, N., Hayek, G., Bardelli, N., Bardelli, A.M., et al. (1985). Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study. EUROPEAN NEUROLOGY, 24(2), 85-93 [10.1159/000115767].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/31209
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