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AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.

Neurobiology of disease - 1 Aug 2024

Diarra Salimata, Ghosh Saikat, Cissé Lassana, Coulibaly Thomas, Yalcouyé Abdoulaye, Harmison George, Diallo Salimata, Diallo Seybou H, Coulibaly Oumar, Schindler Alice, Cissé Cheick A K, Maiga Alassane B, Bamba Salia, Samassekou Oumar, Khokha Mustafa K, Mis Emily K, Lakhani Saquib A, Donovan Frank X, Jacobson Steve, Blackstone Craig, Guinto Cheick O, Landouré Guida, Bonifacino Juan S, Fischbeck Kenneth H, Grunseich Christopher

Abstract excerpt

Hereditary spastic paraplegia (HSP) comprises a large group of neurogenetic disorders characterized by progressive lower extremity spasticity. Neurological evaluation and genetic testing were completed in a Malian family with early-onset HSP. Three children with unaffected consanguineous parents presented with symptoms consistent with childhood-onset complicated HSP. Neurological evaluation found lower limb...

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Adaptor Protein Complex 2
Child, Preschool
Endocytosis
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spastic Paraplegia, Hereditary

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Identifiers

PMID: 38772452
DOI: 10.1016/j.nbd.2024.106537
PMCID: PMC11209852

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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