Intracellular FMRpolyG-HSP70 complex: Possible use as biochemical marker of Fragile X Tremor Ataxia Syndrome

INTRODUCTION INTRODUCTION MATERIALS AND METHODS RESULTS DISCUSSION Author Contributions AKNOWLEDGMENTS CONFLICT OF INTEREST References Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects about 25% of carriers of non-coding CGG-repeat expansions (55-200 repeats) in the premutation range within the fragile X gene (FMR1). Main clinical features include intention tremor, cerebellar ataxia, and Parkinsonism [1]. Recently, great emphasis on the pathogenetic role of toxic aggregates, produced by a RAN translation process on the 5 expanded CGG region, has been given [2,3]. These aggregates contain a small protein with a polyglycin stretch, (FMRpolyG), a ...