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Comment
. 2025 Sep;33(9):1093-1095.
doi: 10.1038/s41431-025-01882-1. Epub 2025 Jun 2.

Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis

Andrew G L Douglas  1   2
Affiliations
Comment

Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis

Andrew G L Douglas. Eur J Hum Genet. 2025 Sep.
No abstract available

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Conflict of interest statement

Competing interests: The author declares no competing interests.

Figures

Fig. 1
Fig. 1. Genetic risk factors and disease penetrance in apparently sporadic ALS.
Illustration of the relationship between the absolute disease risk conferred by a genetic risk factor for ALS and the likelihood of observing that risk factor in an apparently sporadic case of ALS. Factors associated with higher disease penetrance will tend to give rise to familial cases and only rarely be found in sporadic ALS. Conversely, factors associated with lower disease penetrance will more commonly be seen in sporadic ALS and will rarely be seen in familial ALS.
See this image and copyright information in PMC

Comment on

References

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