| Title |
Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil
|
|---|---|
| Published in |
The Cerebellum, June 2018
|
| DOI | 10.1007/s12311-018-0958-x |
| Pubmed ID | |
| Authors |
Helena Fussiger, Maria Luiza Saraiva-Pereira, Sandra Leistner-Segal, Laura Bannach Jardim |
| Abstract |
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. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Argentina | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 25 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 5 | 20% |
| Professor > Associate Professor | 3 | 12% |
| Student > Bachelor | 3 | 12% |
| Professor | 2 | 8% |
| Researcher | 2 | 8% |
| Other | 5 | 20% |
| Unknown | 5 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 28% |
| Medicine and Dentistry | 3 | 12% |
| Nursing and Health Professions | 2 | 8% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 8% |
| Agricultural and Biological Sciences | 2 | 8% |
| Other | 2 | 8% |
| Unknown | 7 | 28% |
Attention Score in Context
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#19,495,804
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