FRAGILE X TREMOR / ATAXIA SYNDROME (FXTAS)

FRAGILE X TREMOR / ATAXIA SYNDROME (FXTAS) IS CAUSED BY AN EXPANDED TRINUCLEOTIDE (CGG) REPEAT IN 5 UTR OF THE FRAGILE MENTAL RETARDATION 1 GENE (FMR1). THIS GENE RELEASES A PRODUCT CALLED FRAGILE MENTAL RETARDATION PROTEIN (FMRP) WHICH IS RESPONSIBLE FOR THE DEVELOPMENT OF BRAIN, NEURONAL MATURATION AND SYNAPTIC RESPONSES IN NORMAL CONDITIONS. CLINICAL SYMPTOMS INVOLVED IN FRAGILE X SYNDROME ARE DELAYED CRAWLING, WALKING OR TWISTING, ATAXIA, HYPERACTIVE OR IMPULSIVE BEHAVIOR, COGNITIVE DECLINE, DEMENTIA, ANXIETY, SPEECH AND LANGUAGE DELAY, MENTAL RETARDATION, FLAT FEET, FLEXIBLE JOINTS AND LOW MUSCLE TONE. SOME OF THESE PROBLEMS ARE PRESENT AT BIRTH OR MAY DEVELOP DURING PUBERTY.