Homocarnosinosis: A historical update and findings in the SPG11 gene.

doi:10.1111/ane.12949

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Article

Homocarnosinosis: A historical update and findings in the SPG11 gene.

Acta neurologica Scandinavica - 1 Sept 2018

Sjaastad O, Blau N, Rydning S L, Peters V, Rødningen O, Stray-Pedersen A, Krossnes B, Tallaksen C, Koht J

Abstract excerpt

OBJECTIVES: A family with homocarnosinosis was reported in the literature in 1976. Three affected siblings had spastic paraplegia, retinitis pigmentosa, mental retardation, and cerebrospinal fluid (CSF) homocarnosine concentrations 20 times higher than in controls. Based on the clinical findings and new genetic techniques, we have been able to establish a precise genetic diagnosis. METHOD: The medical records...

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Identifiers

PMID: 29732542
DOI: 10.1111/ane.12949

Genes

SPG11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.