Brain Atrophy and White Matter Damage Linked to Peripheral Bioenergetic Deficits in the Neurodegenerative Disease FXTAS

• Published in: International journal of molecular sciences Vol. 22; no. 17; p. 9171
• Main Authors: Wang, Jun, Napoli, Eleonora, Kim, Kyoungmi, McLennan, Yingratana, Hagerman, Randi, Giulivi, Cecilia
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 25.08.2021; MDPI
• Subjects: Adenosine Triphosphate - metabolism; Adult; Age; Aged; Aging; Aging - metabolism; Alzheimer's disease; Ataxia - diagnostic imaging; Ataxia - metabolism; Bioenergetics; Biosynthesis; Brain - diagnostic imaging; Brain - growth & development; Cells, Cultured; Energy; Energy Metabolism; Epstein-Barr virus; Female; Fibroblasts; Flavin-Adenine Dinucleotide - analogs & derivatives; Flavin-Adenine Dinucleotide - metabolism; Fragile X Mental Retardation Protein - genetics; Fragile X Mental Retardation Protein - metabolism; Fragile X Syndrome - diagnostic imaging; Fragile X Syndrome - metabolism; Glucose; Humans; Kinases; Male; Metabolism; Middle Aged; Mitochondria - metabolism; Monocytes - metabolism; Neurodegeneration; Regression analysis; Tremor - diagnostic imaging; Tremor - metabolism; White Matter - diagnostic imaging; White Matter - growth & development; volume; bioenergetics; cognition; MRI; FMR1; mitochondria; white matter hyperintensities; peripheral blood monocytic cells; aging; brain

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder affecting subjects (premutation carriers) with a 55-200 CGG-trinucleotide expansion in the 5′UTR of the fragile X mental retardation 1 gene (FMR1) typically after age 50. As both the presence of white matter hyperint...