Cerebral Microbleeds in Fragile X-Associated Tremor/Ataxia Syndrome.

ABSTRACT:

Background

Fragile X-associated tremor/ataxia syndrome is a neurodegenerative disease of late onset developed by carriers of the premutation in the fragile x mental retardation 1 (FMR1) gene. Pathological features of neurodegeneration in fragile X-associated tremor/ataxia syndrome include toxic levels of FMR1 mRNA, ubiquitin-positive intranuclear inclusions, white matter disease, iron accumulation, and a proinflammatory state.

Objective

The objective of this study was to analyze the presence of cerebral microbleeds in the brains of patients with fragile X-associated tremor/ataxia syndrome and investigate plausible causes for cerebral microbleeds in fragile X-associated tremor/ataxia syndrome.

Methods

We collected cerebral and cerebellar tissue from 15 fragile X-associ

SUBMITTER: Salcedo-Arellano MJ 

PROVIDER: S-EPMC10929604 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature