ArticleCerebellum (London, England)2017
Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes.
Article in Cerebellum (London, England), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).Annals of neurology · 2021Trial
- Survival in Brazilian Patients with Friedreich´s Ataxia.Cerebellum (London, England) · 2025Article
- Autosomal Recessive Ataxias in Northeast Brazil: A Regional Multicenter Case Series.Cerebellum (London, England) · 2025Article
- Plasma miRNAs Correlate with Structural Brain and Cardiac Damage in Friedreich's Ataxia.Cerebellum (London, England) · 2024Article
- Prevalence and Diagnostic Journey of Friedreich's Ataxia in the State of São Paulo, Brazil.Cerebellum (London, England) · 2024Article
- Cardiac Involvement in Mitochondrial Disorders.Current heart failure reports · 2023Review
- Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- A Diagnostic Approach to Spastic ataxia Syndromes.Cerebellum (London, England) · 2022Review
- Very late-onset Friedreich's ataxia with rapid course mimicking as possible multiple system atrophy cerebellar type.BMJ case reports · 2021Article
- Cardiac Involvement in Movement Disorders.Movement disorders clinical practice · 2021Review
- Three Adult-Onset Autosomal Recessive Ataxias: What Adult Neurologists Need to Know.Neurology. Clinical practice · 2021Review
- Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.Annals of clinical and translational neurology · 2021Observational
- Movement Disorders in Genetic Pediatric Ataxias.Movement disorders clinical practice · 2020Review
- Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience.Cerebellum (London, England) · 2019Article
- Article
- Friedreich's ataxia: clinical features, pathogenesis and management.British medical bulletin · 2017Review
- Structural signature of classical versus late-onset friedreich's ataxia by Multimodality brain MRI.Human brain mapping · 2017Article
- Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?Cerebellum (London, England) · 2017Article
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Authors and funding
20 authors.
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No grant is acknowledged in the PubMed record.
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.
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