Towards an understanding of neuropsychiatric manifestations in fragile X premutation carriers
| Autor: | Randi J Hagerman, Scott A. Wilke, Aaron D. Besterman, James A. Bourgeois, Andreea L. Seritan, S. C. Allison, Tua Elisabeth Mulligan |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty Ataxia Autism Intellectual and Developmental Disabilities (IDD) Clinical Sciences Anxiety Neurodegenerative ASD Article Rare Diseases Clinical Research Intellectual disability Genetics medicine ADHD 2.1 Biological and endogenous factors Aetiology fragile X syndrome Psychiatry FMR1 Depression (differential diagnoses) Pediatric fragile X-associated tremor ataxia syndrome Neurology & Neurosurgery Depression Fragile X Premutation Neurosciences medicine.disease Brain Disorders nervous system diseases Fragile X syndrome Mental Health Orphan Drug Neurology Neurological Cognitive Sciences FXTAS Neurology (clinical) medicine.symptom Psychology Fragile X-associated tremor/ataxia syndrome |
| Zdroj: | Future neurology, vol 9, iss 2 |
| ISSN: | 1748-6971 1479-6708 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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