Fragile X Premutation Disorders – Expanding the Psychiatric Perspective

March 24, 2011 at 1:50 pm · Filed under XF veille web / FX web watch and tagged: Dementia, Fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), Primary ovarian insufficiency, Psychiatric co-morbidity

PubMed Central | ncbi.nlm.nih.gov |

Objective:

Fragile X premutation conditions are associated with a significant degree of psychopathology and thus are of interest to the psychiatrist. Remarkable advances at the molecular level have enhanced our understanding of fragile X premutation disorders.

Methods:

The authors review the genetic, molecular, neuroimaging, and clinical (systemic, neurologic, and psychiatric) manifestations of the premutation carrier state (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.

Results:

Clinical manifestations of psychiatric illness in premutation carriers include cognitive, mood, anxiety, and other psychiatric disorders. Fragile X premutation-associated conditions are part of the clinical differential diagnosis of several psychiatric syndromes, particularly in pedigrees with known fragile X syndrome (FXS) cases.

Conclusions:

Fragile X-associated psychiatric manifestations serve as a useful model for a molecular genesis of neuropsychiatric illness. Because of the multigenerational expression of fragile X-associated neuropsychiatric illness, there is a prominent role for genetic testing and genetic counseling of patients and their relatives. Genetic testing is confirmatory of the FMR1 premutation and is an essential component of the clinical evaluation. Psychopharmacological and psychotherapeutic treatment of fragile X-associated psychiatric illnesses may improve patient function and assist in adaptation to the burden of a genetic neuropsychiatric illness.

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