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Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?
Cerebellum. 2017 04; 16(2):599-601.C

Abstract

Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot-Marie-Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich's ataxia (FRDA). We demonstrate that late-onset Friedreich's ataxia (LOFA) may be a CMT mimicker. This case reinforces that other genetic conditions may clinically resemble CMT. The clinical similarities between CMT and FRDA include a symmetrical neuropathy (axonal in FRDA), steppage gait, and eventually scoliosis. We suggest that late-onset forms of hereditary neuropathies should be carefully evaluated, since LOFA may be a CMT mimicker.

Authors+Show Affiliations

Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil. jlpedroso.neuro@gmail.com.Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.

Pub Type(s)

Case Reports
Journal Article
Video-Audio Media

Language

eng

PubMed ID

27687732

Citation

Salomão, Rubens Paulo A., et al. "Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: what Is Similar and what Is Different?" Cerebellum (London, England), vol. 16, no. 2, 2017, pp. 599-601.
Salomão RPA, Gama MTD, Rezende Filho FM, et al. Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different? Cerebellum. 2017;16(2):599-601.
Salomão, R. P. A., Gama, M. T. D., Rezende Filho, F. M., Maggi, F., Pedroso, J. L., & Barsottini, O. G. P. (2017). Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different? Cerebellum (London, England), 16(2), 599-601. https://doi.org/10.1007/s12311-016-0822-9
Salomão RPA, et al. Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: what Is Similar and what Is Different. Cerebellum. 2017;16(2):599-601. PubMed PMID: 27687732.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different? AU - Salomão,Rubens Paulo A, AU - Gama,Maria Thereza Drumond, AU - Rezende Filho,Flávio Moura, AU - Maggi,Fernanda, AU - Pedroso,José Luiz, AU - Barsottini,Orlando G P, PY - 2016/10/1/pubmed PY - 2017/9/25/medline PY - 2016/10/1/entrez KW - Charcot–Marie–Tooth disease KW - Friedreich’s ataxia KW - Hereditary ataxias KW - hereditary neuropathies SP - 599 EP - 601 JF - Cerebellum (London, England) JO - Cerebellum VL - 16 IS - 2 N2 - Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot-Marie-Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich's ataxia (FRDA). We demonstrate that late-onset Friedreich's ataxia (LOFA) may be a CMT mimicker. This case reinforces that other genetic conditions may clinically resemble CMT. The clinical similarities between CMT and FRDA include a symmetrical neuropathy (axonal in FRDA), steppage gait, and eventually scoliosis. We suggest that late-onset forms of hereditary neuropathies should be carefully evaluated, since LOFA may be a CMT mimicker. SN - 1473-4230 UR - https://www.unboundmedicine.com/medline/citation/27687732/Late_Onset_Friedreich's_Ataxia__LOFA__Mimicking_Charcot_Marie_Tooth_Disease_Type_2:_What_Is_Similar_and_What_Is_Different L2 - https://dx.doi.org/10.1007/s12311-016-0822-9 DB - PRIME DP - Unbound Medicine ER -