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Article

Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation.

Journal of genetics - 1 Jan 2022

Manoochehri Jamal, Goodarzi Hamed Reza, Tabei Seyed Mohammad Bagher

Abstract excerpt

AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a genetically diverse group of neurologic disorders defined by complex spastic paraplegia. Different forms of AP-4-associated HSP are classified by chromosomal locus or causative gene. Spastic paraplegia 51 (SPG51) is a neurodevelopmental condition that is caused by autosomal recessive mutations in the adaptor protein...

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PMID: 36226339

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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