[Neurological signs in the adult with fragile-X premutation]

Fragile X syndrome is an inherited form of mental retardation. It results from an abnormally expanded number of trinucleotide CGG repeats. Some grandfathers of these children become forgetful, have frequent falls and other neurological problems. Researchers have found a connection between fragile X syndrome and the neurological symptoms in elderly men. This resulted in the recognition of a syndrome originally referred to as intention tremor, parkinsonism and generalised brain atrophy in carriers of a fragile X premutation. This premutation is also associated with premature ovarian failure.

This paper reviews the literature on the neurological signs of fragile X premutation.

Fragile X premutation is a risk for movement disorders and cognitive dysfunction and it should be considered in patients with a family history of mental retardation or autism, and particularly in those females with premature ovarian failure.