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| Castilhos,Raphael Machado de; Santos,José Augusto dos; Augustin,Marina Coutinho; Pedroso,José Luiz; Barsottini,Orlando; Saba,Roberta; Ferraz,Henrique Ballalai; Godeiro Junior,Clécio; Vargas,Fernando Regla; Salarini,Diego Zanotti; Furtado,Gabriel Vasata; Polese-Bonatto,Marcia; Rodrigues,Luiza Paulsen; Sena,Lucas Schenatto; Saraiva-Pereira,Maria Luiza; Jardim,Laura Bannach. |
| Abstract Huntington’s disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) state, Brazil, and on intergenerational instability of the (CAG)n in HD families. Symptomatic and at-risk subjects from 179 HD families were ascertained between 2013 and 2016. Clinical, molecular and family history data were obtained. Expanded (CAG)n length differences between parent and child (delta-expanded-(CAG)n) were calculated. Effect of parental age on the (CAG)n instability upon transmission was inferred by correlating delta-expanded-(CAG)n between siblings to their age differences. HD minimal prevalence in RS state was... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CAG expansion; Huntington’s disease; Intergenerational instability; Minimal prevalence. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300329 |
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| Furtado,Gabriel Vasata; Oliveira,Camila Maria de; Bolzan,Gabriela; Saute,Jonas Alex Morales; Saraiva-Pereira,Maria Luiza; Jardim,Laura Bannach. |
| Abstract Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine at ataxin-3, SCA3/MJD presents a relentless course with no current disease modifying treatment. Clinical scales used to measure SCA3/MJD progression present moderate effect sizes, a major drawback for their use as main outcomes in clinical trials, given the rarity and slow progression of the disease. This limitation might be overcome by finding good surrogate markers. We present here a review of studies on peripheral and neurophysiological markers in SCA3/MJD that can be candidates for state biomarkers. Data on markers already studied were summarized, giving emphasis on validation against... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Biomarkers; Neurophysiology; Machado-Joseph disease; Spinocerebellar ataxia type 3. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200238 |
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