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

doi:10.3233/JAD-2011-110647

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 journal › Article › peer-review

3 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 language	English
Pages (from-to)	253-257
Number of pages	5
Journal	Journal of Alzheimer's Disease
Volume	27
Issue number	2
DOIs	https://doi.org/10.3233/JAD-2011-110647
Publication status	Published - 2011

Keywords

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.3233/JAD-2011-110647

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Ortez, C., Villar, C., Fons, C., Duarte, S. T., Pérez, A., García-Villoria, J., Ribes, A., Ormazábal, A., Casado, M., Campistol, J., Vilaseca, M. A., & García-Cazorla, A. (2011). Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency. Journal of Alzheimer's Disease, 27(2), 253-257. https://doi.org/10.3233/JAD-2011-110647

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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.",

keywords = "Amyloid-β peptide, cerebrospinal fluid, childhood, HSD10 deficiency, inborn errors of metabolism, neurotransmitters, synaptic proteins",

author = "Carlos Ortez and Cristina Villar and Carmen Fons and Duarte, {Sof{\'i}a T.} and Ana P{\'e}rez and Judith Garc{\'i}a-Villoria and Antonia Ribes and Aida Ormaz{\'a}bal and Mercedes Casado and Jaume Campistol and Vilaseca, {Maria Antonia} and Angels Garc{\'i}a-Cazorla",

year = "2011",

doi = "10.3233/JAD-2011-110647",

language = "English",

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Ortez, C, Villar, C, Fons, C, Duarte, ST, Pérez, A, García-Villoria, J, Ribes, A, Ormazábal, A, Casado, M, Campistol, J, Vilaseca, MA & García-Cazorla, A 2011, 'Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency', Journal of Alzheimer's Disease, vol. 27, no. 2, pp. 253-257. https://doi.org/10.3233/JAD-2011-110647

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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

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U2 - 10.3233/JAD-2011-110647

DO - 10.3233/JAD-2011-110647

M3 - Article

C2 - 21841256

AN - SCOPUS:81855211116

VL - 27

SP - 253

EP - 257

JO - Journal Of Alzheimers Disease

JF - Journal Of Alzheimers Disease

SN - 1387-2877

IS - 2

ER -

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

Abstract

Keywords

UN SDGs

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