Epidemiology of Fragile X Syndrome

Sherman, Stephanie L.; Hunter, Jessica Ezzell

doi:10.1016/b978-0-12-804461-2.00004-4

Cited by 4 publications

(6 citation statements)

References 125 publications

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“…Mitral valve prolapse is present in about 50% of affected males.21 Strabismus has been seen in up to 56% of affected males. 21 Hypotonia and 'soft neurological signs', which consist of mirroring of complex finger movements, pseudochoreiform movements of outstretched fingers and gait maladroitness, are common findings. These difficulties improve with age.…”

Section: Characteristicsmentioning

confidence: 99%

“…Other medical problems, such as hernia, scoliosis, cleft palate and seizures, occur in higher incidence than normal. 21 Seizures are associated with abnonnal EEG pattern, with unilateral or bilateral spikes in the temporal area. When seizures are present, they may be generalised or partially complex in nature and can usually be controlled with anticonvulsants.…”

Section: Characteristicsmentioning

confidence: 99%

“…The occupational therapist can also help by improving motor inco~ ordination, joint instability and motor planning problems. 21 The psychologist should follow these children regularly to help with behavioural problems and in the assessment of IQ scores to monitor progress made in their special school. Close work with parents to help them understand their child's strengths and deficits and to deal more effectively with behavioural problems is vital.…”

Section: Managementmentioning

confidence: 99%

“…If mitral valve prolapse or other cardiac abnonnality is found, subacute bacterial endocarditis prophylaxis is indicated for dental procedures and surgery that could contaminate the bloodstream. 21 The use of folic acid in children with fragile X syndrome is controversial, and several studies have reported no effect in the small number of patients reviewed; other reports have shown that a limited number of young children show improved behaviour and decreased hyperactivity.…”

Section: Managementmentioning

confidence: 99%

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The Fragile X Syndrome

Patel

1994

Int J Clinical Practice

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Section: Characteristicsmentioning

confidence: 99%

Section: Characteristicsmentioning

confidence: 99%

Section: Managementmentioning

confidence: 99%

Section: Managementmentioning

confidence: 99%

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The Fragile X Syndrome

Patel

1994

Int J Clinical Practice

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“…It is produced by the repeat expansion of the CGG trinucleotide in the promoter region of the human FMR1 gene located on chromosome X which leads to hypermethylation and transcriptional silencing of the gen. Individuals with more than 200 CGG repetitions exhibit the full mutation and FXS (Hagerman et al, 2017; Nelson et al, 2017; Sherman and Hunter, 2017).…”

Section: Introductionmentioning

confidence: 99%

Structural and Functional Abnormalities in the Olfactory System of Fragile X Syndrome Models

Bodaleo

Tapia-Monsalves

Rio

et al. 2019

Front. Mol. Neurosci.

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Fragile X Syndrome (FXS) is the most common inherited form of intellectual disability. It is produced by mutation of the Fmr1 gene that encodes for the Fragile Mental Retardation Protein (FMRP), an important RNA-binding protein that regulates the expression of multiple proteins located in neuronal synapses. Individuals with FXS exhibit abnormal sensory information processing frequently leading to hypersensitivity across sensory modalities and consequently a wide array of behavioral symptoms. Insects and mammals engage primarily their sense of smell to create proper representations of the external world and guide adequate decision-making processes. This feature in combination with the exquisitely organized neuronal circuits found throughout the olfactory system (OS) and the wide expression of FMRP in brain regions that process olfactory information makes it an ideal model to study sensory alterations in FXS models. In the last decade several groups have taken advantage of these features and have used the OS of fruit fly and rodents to understand neuronal alteration giving rise to sensory perception issues. In this review article, we will discuss molecular, morphological and physiological aspects of the olfactory information processing in FXS models. We will highlight the decreased inhibitory/excitatory synaptic balance and the diminished synaptic plasticity found in this system resulting in behavioral alteration of individuals in the presence of odorant stimuli.

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BC RNA Mislocalization in the Fragile X Premutation

Muslimov

Eom

Iacoangeli

et al. 2018

eNeuro

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Fragile X premutation disorder is caused by CGG triplet repeat expansions in the 5′ untranslated region of FMR1 mRNA. The question of how expanded CGG repeats cause disease is a subject of continuing debate. Our work indicates that CGG-repeat structures compete with regulatory BC1 RNA for access to RNA transport factor hnRNP A2. As a result, BC1 RNA is mislocalized in vivo, as its synapto-dendritic presence is severely diminished in brains of CGG-repeat knock-in animals (a premutation mouse model). Lack of BC1 RNA is known to cause seizure activity and cognitive dysfunction. Our working hypothesis thus predicted that absence, or significantly reduced presence, of BC1 RNA in synapto-dendritic domains of premutation animal neurons would engender cognate phenotypic alterations. Testing this prediction, we established epileptogenic susceptibility and cognitive impairments as major phenotypic abnormalities of CGG premutation mice. In CA3 hippocampal neurons of such animals, synaptic release of glutamate elicits neuronal hyperexcitability in the form of group I metabotropic glutamate receptor–dependent prolonged epileptiform discharges. CGG-repeat knock-in animals are susceptible to sound-induced seizures and are cognitively impaired as revealed in the Attentional Set Shift Task. These phenotypic disturbances occur in young-adult premutation animals, indicating that a neurodevelopmental deficit is an early-initial manifestation of the disorder. The data are consistent with the notion that RNA mislocalization can contribute to pathogenesis.

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Epidemiology of Fragile X Syndrome

Cited by 4 publications

References 125 publications

The Fragile X Syndrome

The Fragile X Syndrome

Structural and Functional Abnormalities in the Olfactory System of Fragile X Syndrome Models

BC RNA Mislocalization in the Fragile X Premutation

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