Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil

Friedreich ataxia (FRDA) is an autosomal recessive disorder due to mutations in the FXN gene. FRDA is characterized by the classical triad of ataxia, absent reflexes, and Babinski sign, but atypical presentations might also occur. Our aims were to describe the proportion of FRDA diagnoses in suspect...

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Bibliographic Details
Published in:Cerebellum (London, England) England), 2019-02, Vol.18 (1), p.147-151
Main Authors: Fussiger, Helena, Saraiva-Pereira, Maria Luiza, Leistner-Segal, Sandra, Jardim, Laura Bannach
Format: Article
Language:English
Subjects:
Age of Onset
Ataxia
Biomedical and Life Sciences
Biomedicine
Brazil - epidemiology
Cross-Sectional Studies
Frataxin
Friedreich Ataxia - diagnosis
Friedreich Ataxia - epidemiology
Friedreich Ataxia - genetics
Friedreich's ataxia
Hereditary diseases
Humans
Iron-Binding Proteins - genetics
Medical diagnosis
Neurobiology
Neurology
Neurosciences
Phenotype
Phenotypes
Prevalence
Reflexes
Short Report
Trinucleotide Repeat Expansion
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Summary:Friedreich ataxia (FRDA) is an autosomal recessive disorder due to mutations in the FXN gene. FRDA is characterized by the classical triad of ataxia, absent reflexes, and Babinski sign, but atypical presentations might also occur. Our aims were to describe the proportion of FRDA diagnoses in suspected families living in Rio Grande do Sul, South Brazil, and to estimate a minimum frequency of symptomatic subjects. Subjects that were evaluated by molecular analysis for FRDA at the Hospital de Clínicas de Porto Alegre were identified in our files. Patients’ clinical manifestation and phenotypes were described and compared. The number of FRDA subjects alive in the last 5 years was determined. One hundred fifty-six index cases (families) were submitted to evaluation of GAA repeats at FXN since 1997: 27 were confirmed as FRDA patients. Therefore, the diagnostic yield was 17.3%. Proportion of classical, late onset, and retained reflexes subphenotypes were similar to those described by other studies. A minimum prevalence was estimated as 0.20:100.000 inhabitants. In conclusion, we verified that this FRDA population displayed the usual clinical characteristics, but with a lower period prevalence than those obtained in populations from Europe.
ISSN:1473-4222
1473-4230
DOI:10.1007/s12311-018-0958-x