Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes

Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes

Author Martinez, Alberto R. M. Google Scholar
Moro, Adriana Google Scholar
Abrahao, Agessandro Autor UNIFESP Google Scholar
Faber, Ingrid Google Scholar
Borges, Conrado R. Google Scholar
Rezende, Thiago J. R. Google Scholar
Martins, Carlos R., Jr. Google Scholar
Moscovich, Mariana Google Scholar
Munhoz, Renato P. Google Scholar
Segal, Sandra Leistner Google Scholar
Arruda, Walter O. Google Scholar
Saraiva-Pereira, Maria Luiza Google Scholar
Karuta, Simone Google Scholar
Pedroso, Jose Luiz Autor UNIFESP Google Scholar
D'Abreu, Anelyssa Google Scholar
Jardim, Laura B. Google Scholar
Lopes-Cendes, Iscia Google Scholar
Barsottini, Orlando G. Autor UNIFESP Google Scholar
Teive, Helio A. G. Google Scholar
Franca, Marcondes C., Jr. Google Scholar
Abstract Friedreich's ataxia (FDRA) is the most common inherited ataxia worldwide, caused by homozygous GAA expansions in the FXN gene. Patients usually have early onset ataxia, areflexia, Babinski sign, scoliosis and pes cavus, but at least 25 % of cases have atypical phenotypes. Disease begins after the age of 25 in occasional patients (late-onset Friedreich ataxia (LOFA)). Little is known about the frequency and clinical profile of LOFA patients. One hundred six patients with molecular confirmation of FDRA and followed in three Brazilian outpatient centers were enrolled. General demographics, GAA expansion size, age at onset, cardiac, endocrine, and skeletal manifestations were evaluated and compared between LOFA and classic FDRA (cFDRA) groups. We used Mann-Whitney and Fisher tests to compare means and proportions between groups

p values < 0.05 were considered significant. LOFA accounted for 17 % (18/106) and cFDRA for 83 % (88/106) of the patients. There were 13 and 48 women in each group, respectively. LOFA patients were significantly older and had smaller GAA expansions. Clinically, LOFA group had a tendency toward lower frequency of diabetes/impaired glucose tolerance (5.8 vs. 17 %, p = 0.29) and cardiomyopathy (16.6 vs. 28.4 %, p = 0.38). Skeletal abnormalities were significantly less frequent in LOFA (scoliosis 22 vs. 61 %, p = 0.003, and pes cavus 22 vs.75 %, p < 0.001) as were spasticity and sustained reflexes, found in 22 % of LOFA patients but in none of the cFDRA patients (p = 0.001). LOFA accounts for 17 % of Brazilian FDRA patients evaluated herein. Clinically, orthopedic features and spasticity with retained reflexes are helpful tips to differentiate LOFA from cFDRA patients.
Keywords Late-onset Friedreich ataxia
Retained reflexes
Spastic ataxia
xmlui.dri2xhtml.METS-1.0.item-coverage New York
Language English
Date 2017
Published in Cerebellum. New York, v. 16, n. 1, p. 253-256, 2017.
ISSN 1473-4222 (Sherpa/Romeo, impact factor)
Publisher Springer
Extent 253-256
Access rights Closed access
Type Article
Web of Science ID WOS:000393586100024

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