Psychiatric Disorders Associated with FXTAS

摘要: Carriers of the FMR1 premutation (with 55-200 CGG repeats) may present with multiple medical and psychiatric disorders. Middle-aged carriers (males more often than females) suffer from fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS is a newly discovered neurodegenerative disease characterized by intention tremor and ataxia, along several other neurological features. Psychiatric manifestations are common in premutation carriers both genders include attention deficits, anxiety, depression, irritability, impulse dyscontrol, substance abuse or dependence. Major depressive disorder, panic disorder without agoraphobia, generalized anxiety disorder, social phobia, specific phobia among psychiatric diagnoses encountered premutation carriers, including those FXTAS. Later course illness, cognitive deficits (including dementia) may occur. In this paper, we discuss phenotypes FXTAS, based on thorough review literature, as well as our own research experience. Symptomatic pharmacologic treatments available, although modifying agents have not yet been developed.