Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task

Goodrich-Hunsaker, Naomi J.; Wong, Ling M.; McLennan, Yingratana A.; Tassone, Flora; Harvey, Danielle; Rivera, Susan M.; Simon, Tony J.

doi:10.3389/fnhum.2011.00063

Cited by 62 publications

(54 citation statements)

References 45 publications

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“…3, 5, 20, 21, 22 Males carriers over age 50 have an increased likelihood of additional medical problems, such as neuropathy, hypothyroidism, hypertension, arrhythmias, and sleep apnea which may begin prior to the onset of FXTAS. 3, 20, 23 As such, identification of both male and female premutation carriers can lead to early diagnosis and treatment of these medical and psychiatric issues, potentially. improving the individual’s quality of life.…”

Section: Discussionmentioning

confidence: 99%

Climbing the Branches of a Family Tree: Diagnosis of Fragile X Syndrome

Visootsak

Hipp

Clark

et al. 2014

The Journal of Pediatrics

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Objective To determine the average number of family members who are diagnosed with a Fragile X Mental Retardation-1 (FMR1) mutation after a proband receives the initial diagnosis of Fragile X syndrome (FXS). Study design We reviewed pedigrees of families who have been evaluated at the Fragile X Center at Emory University, Atlanta, GA. Through these pedigrees, we determined the number of additional family members diagnosed as FMR1 premutation carriers or with full mutation FXS, following the initial diagnosis in each proband. Results The Fragile X pedigree review identified 176 probands, including 108 males (61%) and 68 females (39%). A total of 785 family members were diagnosed with expanded fragile X alleles, 278 males (35%) and 507 females (65%). These family members included 227 individuals with full mutation FXS (219 males, 8 females) and 558 premutation carriers (59 males, 499 females). After the initial diagnosis of a proband with FXS, there were, on average, at least 5 additional family members who were diagnosed with an FMR1 mutation. Conclusions Our study confirms that taking a detailed family history after diagnosis of a proband with FXS is likely to identify multiple family members with FMR1 mutations. It is important that the pediatrician or other health care provider making a diagnosis of FXS recognize the value of a detailed family history for timely diagnosis and treatment of additional individuals who may be FMR1 premutation carriers or have full mutation FXS.

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Section: Discussionmentioning

confidence: 99%

Climbing the Branches of a Family Tree: Diagnosis of Fragile X Syndrome

Visootsak

Hipp

Clark

et al. 2014

The Journal of Pediatrics

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“…It is hypothesized that a decrease in Fmr1 functionally affects the protein interaction network with direct consequences on signaling cascade and cellular metabolism (Davidovic et al, 2011). There are two different FMR1 mutations, full mutation and permutation (Goodrich-Hunsaker et al, 2011a, 2011b). Premutation, associated with Fragile X-associated tremor/ataxia syndrome (FXTAS; Wang et al, 2010), has a repeat length of 50–200 and does not usually cause mental deficits, but shyness, anxiety, and premature ovarian failure have been known to occur.…”

Section: Fragile X Syndromementioning

confidence: 99%

Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders

et al. 2014

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Oxytocin (OT) and arginine vasopressin (AVP) are two small, related neuropeptide hormones found in many mammalian species, including humans. Dysregulation of these neuropeptides have been associated with changes in behavior, especially social interactions. We review how the OT and AVP systems have been investigated in Autism Spectrum Disorder (ASD), Prader–Willi Syndrome (PWS), Williams Syndrome (WS) and Fragile X syndrome (FXS). All of these neurodevelopmental disorders (NDD) are marked by social deficits. While PWS, WS and FXS have identified genetic mutations, ASD stems from multiple genes with complex interactions. Animal models of NDD are invaluable for studying the role and relatedness of OT and AVP in the developing brain. We present data from a FXS mouse model affecting the fragile X mental retardation 1 (Fmr1) gene, resulting in decreased OT and AVP staining cells in some brain regions. Reviewing the research about OT and AVP in these NDD suggests that altered OT pathways may be downstream from different etiological factors and perturbations in development. This has implications for ongoing studies of the therapeutic application of OT in NDD.

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“…Mutations of the FMR1 gene are responsible for fragile X syndrome (Verkerk et al, 1991; Goodrich-Hunsaker et al, 2011) that is characterized by cognitive impairment and other autism-resembling phenotypes (Rogers et al, 2001; Tsiouris and Brown, 2004). Fmr1 KO mice are hyperactive, exhibit perseverative behavior, and poor learning and memory, including eye blink conditioning and fear conditioning (Koekkoek et al, 2005; Olmos-Serrano et al, 2011).…”

Section: Animal Models Of Cerebellum Dysfunctionmentioning

confidence: 99%

Pre-clinical models of neurodevelopmental disorders: focus on the cerebellum

Shevëlkin¹,

Ihenatu

Pletnikov³

2014

Reviews in the Neurosciences

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Recent studies have advanced our understanding of the role of the cerebellum in non-motor behaviors. Abnormalities in the cerebellar structure have been demonstrated to produce changes in emotional, cognitive, and social behaviors resembling clinical manifestations observed in patients with autism spectrum disorders (ASD) and schizophrenia. Several animal models have been used to evaluate the effects of relevant environmental and genetic risk factors on the cerebellum development and function. However, very few models of ASD and schizophrenia selectively target the cerebellum and/or specific cell types within this structure. In this review, we critically evaluate the strength and weaknesses of these models. We will propose that the future progress in this field will require time- and cell type-specific manipulations of disease-relevant genes, not only selectively in the cerebellum, but also in frontal brain areas connected with the cerebellum. Such information can advance our knowledge of the cerebellar contribution to non-motor behaviors in mental health and disease.

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Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task

Cited by 62 publications

References 45 publications

Climbing the Branches of a Family Tree: Diagnosis of Fragile X Syndrome

Climbing the Branches of a Family Tree: Diagnosis of Fragile X Syndrome

Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders

Pre-clinical models of neurodevelopmental disorders: focus on the cerebellum

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