Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS)

Abstract

Females affected by fragile X-associated tremor/ataxia syndrome (FXTAS) demonstrated milder brain changes than affected males, although they showed a similar pattern of radiologic findings consistent with brain atrophy and white matter disease. FXTAS should be considered (by ordering fragile X DNA testing) in females who present with late-onset ataxia, action tremor, or neuropathy, particularly in those with a family history of mental retardation, autism, or premature ovarian failure.

The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome

“…Moreover, a large percentage of hippocampal cells (both neurons and astrocytes) contain intranuclear inclusions, and volumetric MRI analysis of the hippocampus shows considerable volume loss (Adams et al, 2007;Brunberg et al, 2002;Cohen et al, 2006;Greco et al, 2002;Greco et al, 2006).…”

Neuroimaging - Clinical Applications

“…Additionally, premutated women and women with FXTAS seem to have a different phenotype (Berry et al, 2004;Hagerman et al, 2004;Hessl et al, 2005), so that the frequency and relevance of MRI findings in women may be different from that in men. In this regard, less pronounced reductions in cerebellar volume and a lower incidence of the MCP sign has been reported in women with FXTAS compared to men (Adams et al, 2007). Also, an absence of significant associations between reduced cerebellar volumes and increased FXTAS severity, and increased length of the CGG repeat expansion was reported in women, differently from men having FXTAS (Adams et al, 2007).…”

Neuroimaging in Fragile X-Associated

“…In this regard, less pronounced reductions in cerebellar volume and a lower incidence of the MCP sign has been reported in women with FXTAS compared to men (Adams et al, 2007). Also, an absence of significant associations between reduced cerebellar volumes and increased FXTAS severity, and increased length of the CGG repeat expansion was reported in women, differently from men having FXTAS (Adams et al, 2007). Conventional MRI, as including T1-and T2-weighted MR images, suffers from several limitations as a tool to investigate patients with a neurodevelopmental disorder that develop a neurodegenerative process later in life, as happens in the FMR1 premutation/FXTAS condition.…”