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Friedreich's ataxia mimicking hereditary motor and sensory neuropathy.
J Neurol. 2002 Nov; 249(11):1583-6.JN

Abstract

Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreich's ataxia. These patients seem to represent a form of Friedreich's ataxia mimicking Charcot-Marie-Tooth disease.

Authors+Show Affiliations

Department of Neurology, Athens National University, Eginition Hospital, 74 Vas. Sophias Av., 11528, Athens, Greece. mpanas@med.uoa.grNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

12420100

Citation

Panas, Marios, et al. "Friedreich's Ataxia Mimicking Hereditary Motor and Sensory Neuropathy." Journal of Neurology, vol. 249, no. 11, 2002, pp. 1583-6.
Panas M, Kalfakis N, Karadima G, et al. Friedreich's ataxia mimicking hereditary motor and sensory neuropathy. J Neurol. 2002;249(11):1583-6.
Panas, M., Kalfakis, N., Karadima, G., Davaki, P., & Vassilopoulos, D. (2002). Friedreich's ataxia mimicking hereditary motor and sensory neuropathy. Journal of Neurology, 249(11), 1583-6.
Panas M, et al. Friedreich's Ataxia Mimicking Hereditary Motor and Sensory Neuropathy. J Neurol. 2002;249(11):1583-6. PubMed PMID: 12420100.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Friedreich's ataxia mimicking hereditary motor and sensory neuropathy. AU - Panas,Marios, AU - Kalfakis,Nikolaos, AU - Karadima,Georgia, AU - Davaki,Panagiota, AU - Vassilopoulos,Demetris, PY - 2002/11/7/pubmed PY - 2003/4/11/medline PY - 2002/11/7/entrez SP - 1583 EP - 6 JF - Journal of neurology JO - J Neurol VL - 249 IS - 11 N2 - Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreich's ataxia. These patients seem to represent a form of Friedreich's ataxia mimicking Charcot-Marie-Tooth disease. SN - 0340-5354 UR - https://www.unboundmedicine.com/medline/citation/12420100/Friedreich's_ataxia_mimicking_hereditary_motor_and_sensory_neuropathy_ L2 - https://dx.doi.org/10.1007/s00415-002-0902-2 DB - PRIME DP - Unbound Medicine ER -