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April 1, 2024Neurology GeneticsOpen Access

Autosomal Dominant Spastic Paraplegia With Dysregulation of Bowel Function Associated With Heterozygous AP4S1 Gene Mutation

Cyprian Popescu

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Abstract

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.

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Cite This Study

Cyprian Popescu (2024) studied this question.

synapsesocial.com/papers/68e7115bb6db64358768a105 https://doi.org/10.1212/nxg.0000000000200140

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

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