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PSYCHIATRIC DISORDERS ASSOCIATED WITH FXTAS.

Andreea L Seritan1, Melina Ortigas2, Stefan Seritan3

  • 1Department of Psychiatry and Behavioral Sciences, University of California Davis Medical Center, Sacramento, California ; Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute, University of California Davis Medical Center, Sacramento, California.

Current Psychiatry Reviews
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PubMed
Summary

Individuals with the FMR1 premutation may experience various medical and psychiatric issues, including fragile X-associated tremor/ataxia syndrome (FXTAS). This review details common psychiatric symptoms and treatments for FXTAS carriers.

Keywords:
FMR1 premutationFXTASanxietydepressionpsychiatric disorderssubstance abuse

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Area of Science:

  • Neurogenetics
  • Neurology
  • Psychiatry

Background:

  • The FMR1 premutation (55-200 CGG repeats) is associated with diverse medical and psychiatric conditions.
  • Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder affecting middle-aged premutation carriers, predominantly males.
  • Psychiatric manifestations are prevalent in premutation carriers, impacting both genders.

Purpose of the Study:

  • To review and discuss common psychiatric phenotypes observed in FXTAS.
  • To consolidate current knowledge on the psychiatric aspects of FXTAS based on literature and research experience.

Main Methods:

  • Literature review
  • Analysis of research experience with FXTAS patients.

Main Results:

  • FXTAS presents with intention tremor, ataxia, and other neurological symptoms.
  • Common psychiatric issues include attention deficits, anxiety, depression, irritability, impulse control problems, and substance abuse.
  • Diagnoses like major depressive disorder, panic disorder, generalized anxiety disorder, social phobia, and specific phobia are frequently observed.
  • Cognitive deficits, including dementia, may develop later in the disease course.

Conclusions:

  • Psychiatric symptoms are a significant component of FXTAS and FMR1 premutation carrier status.
  • Symptomatic treatments are available for FXTAS, but disease-modifying therapies are still under development.