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Article

AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.

European journal of medical genetics - 1 Nov 2022

Salayev Kamran, Rocca Clarissa, Kaiyrzhanov Rauan, Guliyeva Ulviyya, Guliyeva Sughra, Mursalova Aytan, Rahman Fatima, Anwar Najwa, Zafar Faisal, Jan Farida, Rana Nuzhat, Maqbool Shazia, Efthymiou Stephanie, Houlden Henry

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegias (HSP) are a group of neurodegenerative diseases that present with weakness and stiffness in the lower limb muscles and lead to progressive neurological decline. Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to complex HSP. This study aimed to identify causative genetic variants in consanguineous families...

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Identifiers

PMID: 36122674
DOI: 10.1016/j.ejmg.2022.104620

Provenance

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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