reviewJournal of Neurology Neurosurgery & PsychiatryJan 5, 2017Closed access

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

Fujian Medical University · Union Hospital · +2 more institutions

PubMed
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Abstract

Background Genetic studies have shown that C9orf72, SOD1, TARDBP and FUS are the most common mutated genes in amyotrophic lateral sclerosis (ALS). Here, we performed a meta-analysis to determine the mutation frequencies of these major ALS-related genes in patients with ALS. Methods We performed an extensive literature research to identify all original articles reporting frequencies of C9orf72, SOD1, TARDBP and FUS mutations in ALS. The mutation frequency and effect size of each study were combined. Possible sources of heterogeneity across studies were determined by meta-regression, sensitivity analysis and subgroup analysis. Results 111 studies were included in the meta-analysis. The overall pooled mutation…

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