Abstract
Intermediate-length CAG expansions (encoding 27-33 glutamines, polyQ) of the Ataxin2 (ATXN2) gene represent a risk factor for amyotrophic lateral sclerosis (ALS). Recently, it has been proposed that ≥31 CAG expansions may influence ALS phenotype. We assessed whether ATXN2 intermediate-length polyQ expansions influence ALS phenotype in a series of 375 patients of Sardinian ancestry. Controls were 247 neurologically healthy subjects, resident in the study area, age- and gender-matched to cases. The frequency of ≥31 polyQ ATNX2 repeats was significantly more common in ALS cases (4 patients vs. no control, p = 0.0001). All patients with ≥31 polyQ repeats had a spinal onset versus 73.3% of patients with
Original language | English |
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Pages (from-to) | 2906.e1-2906.e5 |
Journal | Neurobiology of Aging |
Volume | 36 |
Issue number | 10 |
DOIs | |
Publication status | Published - Oct 1 2015 |
Keywords
- Amyotrophic lateral sclerosis
- Ataxin 2 gene
- Genetic modifier
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)
- Ageing
- Developmental Biology
- Geriatrics and Gerontology