title: Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency.
abstract: 17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency is a rare X-linked inborn error of isoleucine catabolism. Although this protein has been genetically implicated in Alzheimer's disease pathogenesis, studies of amyloid-β peptide (Aβ) in patients with HSD10 deficiency have not been previously reported. We found, in a severely affected child with HSD10 deficiency, undetectable levels of Aβ in the cerebrospinal fluid, together with low expression of brain-derived neurotrophic factor, α-synuclein, and serotonin metabolites. Confirmation of these findings in other patients would help elucidating mechanisms of synaptic dysfunction in this disease, and highlight the role of Aβ in both early and late periods of life.
authors.affiliation: Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: Carlos
authors.initials: C
authors.lastname: Ortez
authors.forename: Cristina
authors.initials: C
authors.lastname: Villar
authors.forename: Carmen
authors.initials: C
authors.lastname: Fons
authors.forename: Sofía T
authors.initials: ST
authors.lastname: Duarte
authors.forename: Ana
authors.initials: A
authors.lastname: Pérez
authors.forename: Judith
authors.initials: J
authors.lastname: García-Villoria
authors.forename: Antonia
authors.initials: A
authors.lastname: Ribes
authors.forename: Aida
authors.initials: A
authors.lastname: Ormazábal
authors.forename: Mercedes
authors.initials: M
authors.lastname: Casado
authors.forename: Jaume
authors.initials: J
authors.lastname: Campistol
authors.forename: Maria Antonia
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: Angels
authors.initials: A
authors.lastname: García-Cazorla
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid* / Q000172:deficiency* / Q000235:genetics; D015415:Biomarkers / Q000134:cerebrospinal fluid; D020739:Brain Diseases, Metabolic, Inborn / Q000134:cerebrospinal fluid* / Q000235:genetics / Q000378:metabolism*; D002675:Child, Preschool; D017809:Fatal Outcome; D050172:Genes, X-Linked / Q000235:genetics; D006801:Humans; D008297:Male
chemical_list: D016229:Amyloid beta-Peptides; D015415:Biomarkers; D015067:17-Hydroxysteroid Dehydrogenases; C044256:3 (or 17)-beta-hydroxysteroid dehydrogenase