Dementia & Fragile X

FIragile X syndrome (FXS), also known as Martin-Bell Syndrome, is a specific genetic condition that occurs with some people with an intellectual disability.  It is considered the leading heritable cause of intellectual disability and is significantly associated with autism.

 

Moreover, it has multi-systemic implications impacting not only cognitive, behavioral, sensory, and social functioning but involves possible neuropsychiatric challenges and physical symptoms, including ocular, gastric, and connective tissue problems. FXS has been associated with structural and functional brain abnormalities, including abnormal protein deposition and synaptic dysfunction.

 

The question remains if this may predispose individuals with FXS to neurodegenerative conditions like dementia. Earlier reports distinguished between individuals with FXS who demonstrate early life intellectual and developmental problems and those with permutation of the FMR-1 gene who are carriers, do not themselves exhibit early life cognitive disturbance, but are at risk for Fragile X-associated tremor and ataxia syndrome (FXTAS).

 

In recent years, studies have shown that individuals with FXS may face an elevated risk of developing dementia as they age, particularly in the form of Alzheimer's disease. The exact mechanisms underlying this increased risk remain a subject of ongoing research.