Heterozygous variants in AP4S1 are not associated with a neurological phenotype
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DOI: 10.1002/acn3.52302
Abstract: Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this… read more here.
Keywords: associated neurological; variants ap4s1; neurology; heterozygous variants ... See more keywords