Towards an understanding of neuropsychiatric manifestations in fragile X premutation carriers

Author:

Besterman Aaron D1,Wilke Scott A1,Mulligan Tua-Elisabeth1,Allison Stephen C1,Hagerman Randi2,Seritan Andreea L3,Bourgeois James A4

Affiliation:

1. Department of Psychiatry, University of California, San Francisco School of Medicine, San Francisco, CA 94143, USA

2. Department of Pediatrics & MIND Institute, University of California, Davis School of Medicine, Sacramento, CA 95817, USA

3. Department of Psychiatry & Behavioral Sciences & MIND Institute, University of California, Davis School of Medicine, Sacramento, CA 95817, USA

4. Department of Psychiatry, University of California, San Francisco School of Medicine, San Francisco, CA 94143, USA.

Abstract

ABSTRACT: Fragile X-associated disorders are a group of disorders caused by expansion of noncoding CGG repeat elements in the fragile X (FMR1) gene. One of these disorders, fragile X syndrome, is the most common heritable cause of intellectual disability, and is caused by large CGG repeat expansions (>200) resulting in silencing of the FMR1 gene. An increasingly recognized number of neuropsychiatric fragile X-associated disorders have recently been identified that are caused by ‘premutation’ range expansions (55–200). These disorders are characterized by a spectrum of neuropsychiatric manifestations ranging from an increased risk of neurodevelopmental, mood and anxiety disorders to neurodegenerative phenotypes, such as the fragile X-associated tremor ataxia syndrome. This article reviews the advances in the clinical understanding of neuropsychiatric disorders in premutation carriers across the lifespan and offers guidance for the detection of such disorders by practicing psychiatrists and neurologists.

Publisher

Future Medicine Ltd

Subject

Neurology (clinical),Neurology

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