TY - JOUR
T1 - Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency
AU - Ortez, Carlos
AU - Villar, Cristina
AU - Fons, Carmen
AU - Duarte, Sofía T.
AU - Pérez, Ana
AU - García-Villoria, Judith
AU - Ribes, Antonia
AU - Ormazábal, Aida
AU - Casado, Mercedes
AU - Campistol, Jaume
AU - Vilaseca, Maria Antonia
AU - García-Cazorla, Angels
PY - 2011
Y1 - 2011
N2 - 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.
AB - 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.
KW - Amyloid-β peptide
KW - cerebrospinal fluid
KW - childhood
KW - HSD10 deficiency
KW - inborn errors of metabolism
KW - neurotransmitters
KW - synaptic proteins
UR - http://www.scopus.com/inward/record.url?scp=81855211116&partnerID=8YFLogxK
U2 - 10.3233/JAD-2011-110647
DO - 10.3233/JAD-2011-110647
M3 - Article
C2 - 21841256
AN - SCOPUS:81855211116
SN - 1387-2877
VL - 27
SP - 253
EP - 257
JO - Journal of Alzheimer's Disease
JF - Journal of Alzheimer's Disease
IS - 2
ER -