Title:Psychiatric Disorders Associated with FXTAS
VOLUME: 9 ISSUE: 1
Author(s):Andreea L. Seritan, Melina Ortigas, Stefan Seritan, James A. Bourgeois and Randi J. Hagerman
Affiliation:2230 Stockton Blvd. Sacramento, CA 95817.
Keywords:Anxiety, Depression, FXTAS, FMR1 premutation, Psychiatric disorders, Substance abuse
Abstract: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) may suffer from fragile X-associated
tremor/ataxia syndrome (FXTAS). FXTAS is a newly discovered neurodegenerative disease characterized by intention
tremor and ataxia, along with several other neurological features. Psychiatric manifestations are common in premutation
carriers of both genders and include attention deficits, anxiety, depression, irritability, impulse dyscontrol, and substance
abuse or dependence. Major depressive disorder, panic disorder with or without agoraphobia, generalized anxiety
disorder, social phobia, and specific phobia are among the psychiatric diagnoses often encountered in premutation
carriers, including those with FXTAS. Later in the course of the illness, cognitive deficits (including dementia) may
occur. In this paper, we discuss common psychiatric phenotypes in FXTAS, based on a thorough review of the literature,
as well as our own research experience. Symptomatic pharmacologic treatments are available, although disease modifying
agents have not yet been developed.
