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JNNP: Systematic Review of ALS Gene Mutations, a Population-Based Study

 Last Update: 2022-10-08
 Source: Internet
 Author: User

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Considerable progress has been made in uncovering the complex molecular mechanisms of amyotrophic lateral sclerosis (ALS)

Registered ALS patients were analyzed

A population-based cohort of 1043 patients diagnosed with amyotrophic lateral sclerosis was analyzed and included in PARALS

Distribution of mutated genes in the cohort

A medium-length ATXN2 CAG expansion (30-33 repeats) was the only high-risk genetic factor (defined as OR ≥ 2.

In the population-based ALS cohort, a higher proportion of patients with pathogenic variants were detected (26.

Population-based assessments reveal the complex genetics of ALS and provide a valuable benchmark for the current state of the field

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