Pure psychiatric presentation of Fragile X‐associated tremor/ataxia syndrome

Reiner, Peggy; Taifas, Irina; Massiou, H.; Jouvent, Éric

doi:10.1111/ene.12206

Cited by 2 publications

(2 citation statements)

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“…Carrier screening may be considered in adults presenting with cognitive impairment with or without a movement disorder [86], although screening of patients within the parkinsonism clinical spectrum without additional relevant history has not been found to be productive [72,73]. Finally, clinicians may encounter a patient being evaluated for cognitive impairment with or without movement disorders with an MRI finding of middle cerebellar peduncle T2 hyperintensity or “MCP sign.” Given the high specificity of this finding, FMR1 DNA testing is indicated [87,88]. Patients with dementia on clinical examination who have a concurrent movement disorder, in particular tremor and/or ataxia, should also be considered for FMR1 DNA testing [5].…”

Section: Clinical Indications For Genetic Testing In Carriersmentioning

confidence: 99%

Towards An Understanding of Neuropsychiatric Manifestations In Fragile X Premutation Carriers

et al. 2014

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Fragile X-associated disorders (FXD) are a group of disorders caused by expansion of non-coding CGG repeat elements in the fragile X (FMR1) gene. One of these disorders, fragile X syndrome (FXS), 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 FXD 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 (FXTAS). Here, we review advances in the clinical understanding of neuropsychiatric disorders in premutation carriers across the lifespan and offer guidance for the detection of such disorders by practicing psychiatrists and neurologists.

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Section: Clinical Indications For Genetic Testing In Carriersmentioning

confidence: 99%

Towards An Understanding of Neuropsychiatric Manifestations In Fragile X Premutation Carriers

et al. 2014

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“…There is, however, increasing awareness of a number of protean manifestations FXTAS . For example, there are reports of FXTAS presenting with spastic paraparesis, severe psychiatric disorder, and rapidly progressive dementia . The variability of presentation is thought in part to relate to the pathophysiology of the syndrome, associated with expansion of the fragile X mental retardation 1 ( FMR1 ) gene such that 55‐200 CGG repeats (the FXTAS premutation range) causes gain‐of‐function toxicity .…”

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confidence: 99%