Fragile X permutation Tremor/ataxia syndrome Cognitive deficit
Fecha de publicación:
Cabanyes-Truffino J. Manifestaciones neurológicas en el adulto con premutación X frágil. Neurologia 2010 May;25(4):222-227.
Introduction: 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.