Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

Background: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). The disorder is marked by developmental delay, especially speech delay. The biomarkers Aβ40, Aβ42 and total tau are abnormal in Alzheimer disease (AD),...

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Bibliographic Details
Main Authors: Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
Format: Article
Language:English
Published: Elsevier 2023-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Creatine transporter deficiency
SLC6A8
Amyloid beta peptides
Tau protein
Cerebrospinal fluid
Cerebral energy deficiency
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426923000472

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http://www.sciencedirect.com/science/article/pii/S2214426923000472

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