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Article

Clinical and genetic characterization of AP4B1-associated SPG47.

American journal of medical genetics. Part A - 1 Feb 2018

Ebrahimi-Fakhari Darius, Cheng Chi, Dies Kira, Diplock Amelia, Pier Danielle B, Ryan Conor S, Lanpher Brendan C, Hirst Jennifer, Chung Wendy K, Sahin Mustafa, Rosser Elisabeth, Darras Basil, Bennett James T

Abstract excerpt

The hereditary spastic paraplegias (HSPs) are a heterogeneous group of disorders characterized by degeneration of the corticospinal and spinocerebellar tracts leading to progressive spasticity. One subtype, spastic paraplegia type 47 (SPG47 or HSP-AP4B1), is due to bi-allelic loss-of-function mutations in the AP4B1 gene. AP4B1 is a subunit of the adapter protein complex 4 (AP-4), a heterotetrameric protein...

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PMID: 29193663
DOI: 10.1002/ajmg.a.38561

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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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