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Fragile X-Associated Tremor-Ataxia Syndrome

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401. Fragile X premutation with atypical symptoms at onset. (Full text)

Fragile X premutation with atypical symptoms at onset. To evaluate the presence of carriers of the fragile X premutation among male patients with sporadic ataxia without expansion into known spinocerebellar ataxia genes.Clinical and genetic examinations were performed on patients with sporadic pure ataxia and patients with ataxia associated with extracerebellar features such as pyramidal and extrapyramidal signs, dementia, or peripheral neuropathy.University department of neurology.One hundred (...) forty-two Italian men with sporadic ataxia with onset at age 30 to 84 years.The CGG repeat size of the FMR1 gene was evaluated with fluorescent polymerase chain reaction. Premutated allele lengths were confirmed with Southern blot analysis.FMR1 premutation alleles with a repeat number greater than 55 were detected in 3 probands (2.1%) from a total of 142 male subjects initially referred to our university medical center for evaluation of sporadic ataxia. Two patients had typical fragile X syndrome

2006 Archives of Neurology PubMed abstract

402. Amygdala dysfunction in men with the fragile X premutation. (Full text)

Amygdala dysfunction in men with the fragile X premutation. Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene are associated with autism spectrum disorder in childhood, premature ovarian failure, and the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS, and perhaps the other clinical presentations among carriers, are thought to be due to toxic gain-of-function of elevated levels of the expanded-repeat FMR1 mRNA (...) . Previous structural MRI studies have implicated the amygdala as a potential site of dysfunction underlying social deficits and/or risk for FXTAS. As a preliminary investigation of this possible association, adult males with the premutation, and male controls matched for IQ, age and education, completed three protocols that probe amygdala and sympathetic function: (i) a functional MRI paradigm that measures brain response to fearful faces; (ii) a fear-potentiated startle paradigm that differentiates

2007 Brain PubMed abstract

403. Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study. (Abstract)

Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study. A new tremor-ataxia syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), has been described among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The prevalence of FMR1 premutation alleles has been reported to be 1 in 813 among men. Patients with FXTAS may also have features of parkinsonism. Postmortem findings have (...) vacuolation of the cerebral white matter. As in one previous report, nuclear inclusions were also present in ependymal and choroid plexus cells. A new finding is that of nuclear inclusions in both the adeno- and neurohypophysis. These findings confirm the diffuse nature of this pathology. Further studies of clinical-pathological correlation in a larger sample of brains would provide additional insight into the mechanisms of the tremor, ataxia, and parkinsonism in these patients.(c) 2005 Movement Disorder

2006 Movement Disorders

404. Fragile X syndrome

ovarian insufficiency in women and the fragile X-associated tremor/ataxia syndrome (FXTAS; see this term). In some rare cases, FXS was shown to result from intragenic FMR1 point mutations or deletions. FMR1 codes for the FMRP, an RNA-binding protein that regulates protein synthesis and other signaling pathways in neuronal dendrites. FMR1 silencing is thought to reduce synaptic plasticity and modulation throughout the brain including the hippocampus. Diagnostic methods Diagnosis cannot be based (...) of information on the Orphanet website are accepted. For all other comments, please send your remarks via . Only comments written in English can be processed. Check this box if you wish to receive a copy of your message * " for="captcha" >Please reproduce the text below: * Fragile X syndrome Disease definition Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features. ORPHA:908

2005 Orphanet

405. Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? (Full text)

Tassone F F eng NS 43532 NS NINDS NIH HHS United States Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. England J Med Genet 2985087R 0022-2593 0 FMR1 protein, human 139135-51-6 Fragile X Mental Retardation Protein IM Adult Aged Brain pathology Cerebellar Ataxia diagnosis genetics Female Fragile X Mental Retardation Protein genetics Fragile X Syndrome diagnosis genetics Genetic Carrier Screening Humans Magnetic (...) Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? 15689437 2006 04 20 2017 11 16 1468-6244 42 2 2005 Feb Journal of medical genetics J. Med. Genet. Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? e14 Jacquemont S S MIND Institute, University of California Davis Medical Center, Sacramento, CA, USA. Orrico A A Galli L L Sahota P K PK Brunberg J A JA Anichini C C Leehey M M Schaeffer S S Hagerman R J RJ Hagerman P J PJ

2005 Journal of Medical Genetics PubMed abstract

406. Progression of tremor and ataxia in male carriers of the FMR1 premutation. (Abstract)

Progression of tremor and ataxia in male carriers of the FMR1 premutation. Premutation alleles of the fragile X mental retardation 1 (FMR1) gene give rise to a late-onset movement disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), characterized by progressive intention tremor and gait ataxia, with associated dementia and global brain atrophy. The natural history of FXTAS is largely unknown. To address this issue, a family-based, retrospective, longitudinal study was conducted (...) with a cohort of 55 male premutation carriers. Analysis of the progression of the major motor signs of FXTAS, tremor and ataxia, shows that tremor usually occurs first, with median onset at approximately 60 years of age. From the onset of the initial motor sign, median delay of onset of ataxia was 2 years; onset of falls, 6 years; dependence on a walking aid, 15 years; and death, 21 years. Preliminary data on life expectancy are variable, with a range from 5 to 25 years.(c) 2006 Movement Disorder Society.

2007 Movement Disorders

407. Fragile X Syndrome

. People in whom the sequence is repeated over 200 times have the full mutation, which causes a deficiency in FMRP and thereby the full clinical syndrome. If there are between 55 and 200 repeats, there may be a "premutation". In these individuals, FMRP is produced but there is a risk of expansion in subsequent generations. The premutation alleles also confer a risk of associated fragile-X disorders (fragile X-associated tremor/ataxia disorder and fragile X-associated primary ovarian insufficiency (...) Fragile X Syndrome Fragile X Syndrome. What is fragile X syndrome? Information | Patient TOPICS Try our Symptom Checker TREATMENT RESOURCES Try our Symptom Checker PROFESSIONAL Upgrade to Patient Pro / / Search Fragile X Syndrome Authored by , Reviewed by | Last edited 3 Aug 2015 | Certified by This article is for Medical Professionals Professional Reference articles are designed for health professionals to use. They are written by UK doctors and based on research evidence, UK and European

2008 Mentor

408. Screening for Fragile X Syndrome

. People in whom the sequence is repeated over 200 times have the full mutation, which causes a deficiency in FMRP and thereby the full clinical syndrome. If there are between 55 and 200 repeats, there may be a "premutation". In these individuals, FMRP is produced but there is a risk of expansion in subsequent generations. The premutation alleles also confer a risk of associated fragile-X disorders (fragile X-associated tremor/ataxia disorder and fragile X-associated primary ovarian insufficiency (...) Screening for Fragile X Syndrome Fragile X Syndrome. What is fragile X syndrome? Information | Patient TOPICS Try our Symptom Checker TREATMENT RESOURCES Try our Symptom Checker PROFESSIONAL Upgrade to Patient Pro / / Search Fragile X Syndrome Authored by , Reviewed by | Last edited 3 Aug 2015 | Certified by This article is for Medical Professionals Professional Reference articles are designed for health professionals to use. They are written by UK doctors and based on research evidence, UK

2008 Mentor

409. Fragile X syndrome associated with tic disorders. (Abstract)

Fragile X syndrome associated with tic disorders. Movement disorders other than late onset tremor-ataxia in association with fragile X syndrome, the most common identifiable cause of inherited mental retardation, seem to be rare. Here we describe five male patients from three unrelated families with fragile X syndrome that presented with motor and phonic tics. Clinically, 4 patients fulfilled diagnostic criteria for Gilles de la Tourette syndrome (GTS) while 1 patient would have been diagnosed (...) with an adult onset tic disorder. However, in all patients onset of tics was considerably later than in typical GTS. Three patients had atypical tics and two patients reported waxing and waning of tic intensity over time. Four of the 5 patients showed clinical signs typical of fragile X syndrome, in particular dysmorphic features, learning difficulties and speech and language problems that required special treatment. All patients had co-morbidities common to both GTS and fragile X syndrome. We suggest

2008 Movement Disorders

410. The fragile X premutation presenting as essential tremor. (Abstract)

The fragile X premutation presenting as essential tremor. The fragile X premutation has recently been reported to be associated with a neurodegenerative syndrome, chiefly characterized by intention tremor, gait ataxia, and executive cognitive deficits in men older than 50 years. Essential tremor is a frequent cause of tremor in elderly patients and in some cases is associated with impaired tandem gait and cognitive deficits.To describe 2 fragile X carriers whose clinical presentation mimicked (...) essential tremor.The 2 patients described herein underwent neurologic examinations by experienced movement disorders neurologists, magnetic resonance imaging, and fragile X gene, messenger RNA, and protein analyses. One underwent detailed neuropsychological testing.Patients were studied at 2 large university movement disorders clinics.Both patients were white men older than 50 years who had been diagnosed as having essential tremor and then found to be fragile X carriers.Besides disabling intention

2003 Archives of Neurology

411. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. (Full text)

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. Premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene are frequent in the general population, with estimated prevalences of 1 per 259 females and 1 per 813 males. Several articles have recently described the presence of late-onset neurological symptoms in male carriers of premutation (FMR1) alleles. The main clinical features described in this newly (...) identified syndrome are cerebellar ataxia and intention tremor. Additional documented symptoms include short-term memory loss, executive functional deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower-limb proximal muscle weakness, and autonomic dysfunction.To study the penetrance of the fragile X-associated tremor/ataxia syndrome (FXTAS) among premutation carriers.Family-based study of 192 individuals (premutation carriers and controls) whose families belong to the Northern

2004 JAMA PubMed abstract

412. Pur α binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of Fragile X Tremor/Ataxia Syndrome (Full text)

Pur α binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of Fragile X Tremor/Ataxia Syndrome Fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently recognized neurodegenerative disorder in fragile X premutation carriers with FMR1 alleles containing 55-200 CGG repeats. Previously, we developed a Drosophila model of FXTAS and demonstrated that transcribed premutation repeats alone are sufficient to cause neurodegeneration, suggesting that rCGG

2007 Neuron PubMed abstract

413. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. (Full text)

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. The recent identification of fragile X-associated tremor ataxia syndrome (FXTAS) associated with premutations in the FMR1 gene and the possibility of clinical overlap with multiple system atrophy (MSA) has raised important questions, such as whether genetic testing for FXTAS should be performed routinely in MSA and whether positive cases might affect the specificity (...) that, with proper application of current diagnostic criteria, FXTAS is very unlikely to be confused with MSA. However, slowly progressive disease or predominant tremor are useful red flags and should prompt the consideration of FXTAS. On the basis of our data, the EMSA Study Group does not recommend routine FMR1 genotyping in typical MSA patients.

2005 Brain PubMed abstract

414. Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome (Full text)

Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome The human FMR1 gene contains an unstable CGG-repeat in its 5' untranslated region. The repeat length in the normal population is polymorphic (5-54 CGG-repeats). Individuals carrying lengths beyond 200 CGGs (i.e. the full mutation) show hypermethylation and as a consequence gene silencing of the FMR1 gene. The absence of the gene product FMRP causes (...) the fragile X syndrome, the most common inherited form of mental retardation. Elderly carriers of the premutation (PM), which is defined as a repeat length between 55 and 200 CGGs, can develop a progressive neurodegenerative syndrome: fragile X-associated tremor/ataxia syndrome (FXTAS). The high FMR1 mRNA levels observed in cells from PM carriers have led to the hypothesis that FXTAS is caused by a pathogenic RNA gain-of-function mechanism. Apart from tremor/ataxia, specific psychiatric symptoms have been

2008 Psychoneuroendocrinology PubMed abstract

415. Oculomotor abnormalities in a patient with fragile X-associated tremor/ataxia syndrome. (Abstract)

Oculomotor abnormalities in a patient with fragile X-associated tremor/ataxia syndrome. We present a case report of an 80-year-old man with Fragile X-associated tremor/ataxia syndrome (FXTAS) and acquired diplopia, strabismus, and other oculomotor abnormalities. This is the first case report of ocular abnormalities in a patient with FXTAS.

2008 JAAPOS - Journal of the American Association for Pediatric Ophthalmology and Strabismus

416. Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). (Abstract)

Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder occurring in male and rare female carriers of a premutation expansion (55 to 200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.Volumetric MRI studies, clinical staging, cognitive testing, and molecular analysis were conducted in 15 female premutation carriers affected by FXTAS (age 59.5 (...) sign) in females affected by FXTAS (13%) compared with affected males (58%). We found reduced brain volumes and increased white matter disease associated with the presence of FXTAS in females compared with female controls. We also observed significant associations between reduced cerebellar volume and both increased severity of FXTAS symptoms and increased length of the CGG repeat expansion in male premutation carriers, but not in females.Females affected by fragile X-associated tremor/ataxia

2007 Neurology

417. Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. (Abstract)

Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. We describe the medical course, neuropathology and testicular pathology in 2 men who died with fragile X associated tremor/ataxia syndrome. Fragile X associated tremor/ataxia syndrome, which is a recently described, late onset neurodegenerative disorder, affects up to a third of males and occasionally females older than age 50 years who are carriers of premutation alleles (55 to 200 CGG repeats (...) eosinophilic intranuclear inclusions in neurons and astrocytes throughout the central nervous system, and in the anterior and posterior pituitary gland of 1 of the 2 men. Inclusions were also seen in the Leydig and myoid cells in the testicles of these 2 men with fragile X associated tremor/ataxia syndrome.Fragile X associated tremor/ataxia syndrome inclusions are formed in tissues outside of the central nervous system. Involvement of the testicles and the pituitary gland may lead to neuroendocrine

2007 Journal of Urology

418. Memantine Treatment in Fragile X-Associated Tremor/Ataxia Syndrome

Memantine Treatment in Fragile X-Associated Tremor/Ataxia Syndrome Memantine Treatment in Fragile X-Associated Tremor/Ataxia Syndrome - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Memantine Treatment (...) in Fragile X-Associated Tremor/Ataxia Syndrome The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT00584948 Recruitment Status : Completed First Posted : January 2, 2008 Results First Posted : April 10, 2017 Last Update Posted : May 30, 2017 Sponsor: University of California, Davis Collaborators: National

2007 Clinical Trials

419. Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome (Full text)

Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome 15060119 2004 05 07 2016 10 19 1468-6244 41 4 2004 Apr Journal of medical genetics J. Med. Genet. Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. e43 Tassone F F Hagerman R J RJ Garcia-Arocena D D Khandjian E W EW Greco C M CM Hagerman P J PJ eng HD 40661 HD NICHD NIH HHS United States Letter Research Support, Non-U.S (...) . Gov't Research Support, U.S. Gov't, P.H.S. England J Med Genet 2985087R 0022-2593 0 FMR1 protein, human 0 Nerve Tissue Proteins 0 RNA, Messenger 0 RNA-Binding Proteins 139135-51-6 Fragile X Mental Retardation Protein IM Aged Alleles Astrocytes ultrastructure Ataxia genetics pathology Brain cytology ultrastructure Fragile X Mental Retardation Protein Fragile X Syndrome genetics ultrastructure Humans Intranuclear Inclusion Bodies ultrastructure Male Mutation Nerve Tissue Proteins genetics metabolism

2004 Journal of Medical Genetics PubMed abstract

420. Fragile X-associated tremor/ataxia syndrome (FXTAS). (Abstract)

Fragile X-associated tremor/ataxia syndrome (FXTAS). Carriers of fragile X mental retardation 1 (FMR1) premutation alleles (55 to 200 CGG repeats) are generally spared the more serious neurodevelopmental problems associated with the full-mutation carriers (>200 repeats) of fragile X syndrome. However, some adult male premutation carriers (55-200 repeats) develop a neurological syndrome involving intention tremor, ataxia, dementia, parkinsonism, and autonomic dysfunction. In excess of one-third (...) of male premutation carriers over 50 years of age develop the fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS also represents a new form of inclusion disease, with eosinophilic intranuclear inclusions found throughout the brain in both neurons and astrocytes. Because FXTAS appears to be relatively specific to male premutation carriers, who are known to possess elevated levels of FMR1 mRNA, the neuropathology may arise as a consequence of a toxic gain-of-function of the mRNA itself, although

2004 Mental Retardation and Developmental disabilities Research Reviews

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