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• W2015805588 abstract "<h3>Objective:</h3> Recent evidence suggests that intermediate-length polyglutamine (PolyQ) expansions in the ataxin-2 (<i>ATXN-2</i>) gene are a risk factor for amyotrophic lateral sclerosis (ALS). This work was undertaken with the aim to investigate the frequency of ataxin-1 (<i>ATXN-1</i>) and <i>ATXN-2</i> PolyQ expansions in a cohort of patients with sporadic ALS (sALS) and patients with familial ALS (fALS) from southern Italy. <h3>Methods:</h3> We assessed the PolyQ lengths of <i>ATXN-1</i> and <i>ATXN-2</i> in 405 patients with sALS, 13 patients with fALS, and 296 unrelated controls without history of neurodegenerative disorders. <h3>Results:</h3> We found significantly higher intermediate PolyQ expansions ≥32 for <i>ATXN-1</i> alleles and ≥28 for <i>ATXN-2</i> alleles in the sALS cohort (<i>ATXN-1</i>: ALS, 7.07% vs controls, 2.38%; <i>p</i> = 0.0001; <i>ATXN-2</i>: ALS, 2.72% vs controls, 0.5%; <i>p</i> = 0.001). <i>ATXN-1</i> CAT and <i>ATXN-2</i> CAA interruptions were detected in patients with ALS only. Age at onset, site of onset, and sex were not significantly related to the <i>ATXN-1</i> or <i>ATXN-2</i> PolyQ repeat length expansions. <h3>Conclusions:</h3> Both <i>ATXN-1</i> and <i>ATXN-2</i> PolyQ intermediate expansions are independently associated with an increased risk for ALS." @default.
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• W2015805588 date "2012-11-28" @default.
• W2015805588 modified "2023-09-26" @default.
• W2015805588 title "Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis" @default.
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• W2015805588 doi "https://doi.org/10.1212/wnl.0b013e318278b618" @default.
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