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Table 1 FXTAS compared to the CGG knock-in mouse model

From: Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome

Pathology

Human FXTAS

CGG knock-in mouse

CGG trinucleotide repeat length

55 to 199 CGG repeat length, repeat instability

70 to 300 CGG repeats, modest repeat instability

Elevated FMR1 mRNA expression

Increased 2- to 8-fold

Increased 1.5- to 3-fold

Fragile X mental retardation protein levels

Reduced in several brain regions

Reduced in several brain regions

Motor impairments

Tremor/ataxia, postural sway, parkinsonism

Impaired on rotarod and ladder rung task

Cognitive Impairments

Poor working memory, anxiety, depression, social phobia

Spatial memory deficits, altered anxiety-like behaviors

Intranuclear inclusions

Neurons and astrocytes, highly correlated with CGG repeat length, frequency increases with age

Neurons and astrocytes, related to length of CGG repeat, frequency increases with age

  1. Adapted from [21].