ArticleNeurology. Genetics2024
Autosomal Dominant Spastic Paraplegia With Dysregulation of Bowel Function Associated With Heterozygous AP4S1 Gene Mutation: Case Report.
Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
1 citing paper in PubMed.
- Heterozygous variants in AP4S1 are not associated with a neurological phenotype.Annals of clinical and translational neurology · 2025Article
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Authors and funding
1 author.
Funding
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Abstract
Objectives: The aim of our study was to examine the genetic variants already described in hereditary spastic paraplegia in a family where 2 members had spasticity, dysregulation of sphincter function, and dyspraxia in the proband. Methods: The study included 2 members of a non-consanguineous family with spastic gait, sphincter abnormalities, and neuropsychological characteristics. Whole-exome sequencing was used in the proband and his mother, both diagnosed with hereditary spastic paraplegia, to identify the underlying genetic cause. Results: We identified a heterozygous variant already known in Discussion: In this study, we delineated a heterozygous AP4S1 phenotype characterized by spasticity, dysregulation of sphincter functions, and developmental coordination disorder characteristics. Our results provided arguments for heterozygous variant associations in
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Registered trials
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