Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil
| Autor: | Gabriel Vasata Furtado, Pedro Braga-Neto, Laura Bannach Jardim, Orlando Graziani Povoas Barsottini, José Luiz Pedroso, Maria Luiza Saraiva-Pereira, Tailise Conte Gheno |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Proband congenital hereditary and neonatal diseases and abnormalities Ataxia Population Neurogenetics Nerve Tissue Proteins Biology 03 medical and health sciences 0302 clinical medicine Atrophy medicine Humans Family Allele education Aged Genetics education.field_of_study medicine.disease Myoclonic Epilepsies Progressive 030104 developmental biology Phenotype Neurology Spinocerebellar ataxia Gait Ataxia Female Neurology (clinical) medicine.symptom Trinucleotide Repeat Expansion 030217 neurology & neurosurgery Brazil |
| Zdroj: | Cerebellum (London, England). 16(4) |
| ISSN: | 1473-4230 |
| Popis: | Dentatorubro-pallidoluysian atrophy (DRPLA) is a spinocerebellar ataxia (SCA) very rare in non-Asian populations. To date, DRPLA was undetected in the general Brazilian population. Adult-onset ataxic patients have been recruited from several Brazilian neurology and neurogenetics centers. CAG lengths at SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12, SCA17 and DRPLA associated genes, and ATTCT expansions at SCA10 gene were studied. A single DRPLA case detected is reported. Proband was a 69-year-old Brazilian woman of mixed ancestry, with a late-onset pure ataxia: her alleles at the associated gene, ATN1, presented 14/52 CAG repeats. History of gait ataxia and dementia was observed in two out of six siblings but was absent in her parents. This was the single DRPLA diagnosis obtained from 700 Brazilian unrelated cases with adult-onset ataxia, 487 of them with clear autosomal dominant inheritance. DRPLA accounted for 0.14% of all adult-onset ataxia cases and for 0.2% of families with autosomal dominant inheritance. Normal CAG repeats at ATN1 had a median (range) of 14 (5-20) repeats in other 410 Brazilian chromosomes. DRPLA is quite rare in Brazilian SCA families, which is consistent with the lack of large normal alleles in our population. |
| Databáze: | OpenAIRE |
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