Article
Homozygosity for the C allele at UNC13A rs12608932 seems to compromise cognition in ALS independently of the cognitive domains.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2026
Lehto Annaliis, Zapf Andreas, Hermann Andreas, Machts Judith, Vielhaber Stefan, Koppenbrink Jonas, Edbauer Dieter, Kasper Elisabeth, Prudlo Johannes
Abstract excerpt
The common single nucleotide polymorphism (SNP) rs12608932 located at a cryptic splice in the UNC13A gene has been reported to modify the clinical phenotype of ALS, but it is unclear whether homozygosity for the C-allele at UNC13A rs12608932 modifies specific domains of cognition in ALS. We analyzed retrospective data from a German cohort and found that the proportion of cognitively or behaviorally impaired...
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