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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
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JAMA Neurology | August 30, 2021 | Volume: 78 | Issue: 10 | Pages: 1236
Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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No container title available | March 18, 2021 | Volume: No volume available | Issue: No issue available | Pages: No page available
Abstract Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a life-time risk of 1 in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry GWAS in ALS including 29,612 ALS patients and 122,656 controls which identified 15 risk loci in ALS. When combined with 8,953 whole-genome sequenced individuals (6,538 ALS patients, 2,415 controls) and the largest cortex-derived eQTL dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, repeat expansions or regulatory effects. ALS associated risk loci were shared with multiple traits within the neurodegenerative spectrum, but with distinct enrichment patterns across brain regions and cell-types. Of the environmental and life-style risk factors obtained from literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. All ALS associated signals combined reveal a role for perturbations in vesicle mediated transport and autophagy, and provide evidence for cell-autonomous disease initiation in glutamatergic neurons.
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic
Houlden, Henry , Lincoln, S., Farrer, Matthew J. , Cleland, P G, Hardy, John , Orrell, Richard W., Hardy, John , Houlden, Henry
Neurology | May 13, 2012 | Volume: 61 | Issue: 10 | Pages: 1423-1426
Antioxidant treatment for amyotrophic lateral sclerosis or motor neuron disease
Orrell, Richard W., Lane, Russell J.M., Ross, Mark A.
Cochrane Database of Systematic Reviews | January 25, 2007 | Volume: 2011 | Issue: 6 | Pages: No page available