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Article

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.

Neurology - 17 Feb 2015

Lossos Alexander, Stümpfig Claudia, Stevanin Giovanni, Gaussen Marion, Zimmerman Bat-El, Mundwiller Emeline, Asulin Moriya, Chamma Liat, Sheffer Ruth, Misk Adel, Dotan Shlomo, Gomori John M, Ponger Penina, Brice Alexis, Lerer Israela, Meiner Vardiella, Lill Roland

Abstract excerpt

OBJECTIVE: To present the clinical, molecular, and cell biological findings in a family with an autosomal recessive form of hereditary spastic paraplegia characterized by a combination of spastic paraplegia, optic atrophy, and peripheral neuropathy (SPOAN). METHODS: We used a combination of whole-genome linkage analysis and exome sequencing to map the disease locus and to identify the responsible gene. To analyze...

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Identifiers

PMID: 25609768
DOI: 10.1212/WNL.0000000000001270

Genes

IBA57

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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