Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency

Article type: Short Communication

Authors: Ortez, Carlos^{a; b} | Villar, Cristina^{a; b} | Fons, Carmen^{a; b} | Duarte, Sofía T.^{a; c} | Pérez, Ana^{a; b} | García-Villoria, Judith^{b; d} | Ribes, Antonia^{b; d} | Ormazábal, Aida^{b; e} | Casado, Mercedes^{b; e} | Campistol, Jaume^{a; b} | Vilaseca, Maria Antonia^{b; e} | García-Cazorla, Angels^{a; b; *}

Affiliations: [a] Department of Neurology Hospital Sant Joan de Déu, Barcelona, Spain | [b] CIBER-ER (Biomedical Network Research Centre on Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain | [c] Neuropaediatric Department, Hospital D. Estefânia, CHLC, EPE and CEDOC, Faculdade de Ciências Médicas da Universidade Nova de Lisboa, Portugal | [d] Sección de Errores Congénitos del Metabolismo (IBC), Servicio de Bioquímica y Genética Molecular, Hospital Clínic, Barcelona, Spain | [e] Department of Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain

Correspondence: [*] Correspondence to: Angels García-Cazorla, Neurology Department, Hospital Sant Joan de Deu, Passeig Sant Joan de Deu, 2, 08950 Esplugues, Barcelona, Spain. Tel.: +34 93 280 4000; Fax: +34 93 203 3959; E-mail: agarcia@hsjdbcn.org.

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.

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

DOI: 10.3233/JAD-2011-110647

Journal: Journal of Alzheimer's Disease, vol. 27, no. 2, pp. 253-257, 2011