Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency

Carlos Ortez, Cristina Villar, Carmen Fons, Sofía T. Duarte, Ana Pérez, Judith García-Villoria, Antonia Ribes, Aida Ormazábal, Mercedes Casado, Jaume Campistol, Maria Antonia Vilaseca, Angels García-Cazorla

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)253-257
Number of pages5
JournalJournal of Alzheimer's Disease
Volume27
Issue number2
DOIs
Publication statusPublished - 2011

Keywords

  • Amyloid-β peptide
  • cerebrospinal fluid
  • childhood
  • HSD10 deficiency
  • inborn errors of metabolism
  • neurotransmitters
  • synaptic proteins

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