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215 results for

Fragile X-Associated Tremor-Ataxia Syndrome

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141. Ovarian Insufficiency (Follow-up)

: into the phenotypic fold. Curr Opin Genet Dev . 2002 Jun. 12(3):278-83. . Hagerman RJ, Leavitt BR, Farzin F, et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet . 2004 May. 74(5):1051-6. . Hoek A, Schoemaker J, Drexhage HA. Premature ovarian failure and ovarian autoimmunity. Endocr Rev . 1997 Feb. 18(1):107-34. . Johnson J, Canning J, Kaneko T, Pru JK, Tilly JL. Germline stem cells and follicular renewal in the postnatal mammalian ovary. Nature . 2004 (...) , Mahalingaiah S. Update on primary ovarian insufficiency. Curr Opin Endocrinol Diabetes Obes . 2015 Dec. 22 (6):483-9. . Buijsen RA, Visser JA, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, et al. Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency. Hum Reprod . 2015 Nov 3. . Bardoni B, Mandel JL, Fisch GS. FMR1 gene and fragile X syndrome. Am J Med

2014 eMedicine.com

142. Spontaneous Primary Ovarian Insufficiency and Premature Ovarian Failure (Follow-up)

PJ. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev . 2002 Jun. 12(3):278-83. . Hagerman RJ, Leavitt BR, Farzin F, et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet . 2004 May. 74(5):1051-6. . Hoek A, Schoemaker J, Drexhage HA. Premature ovarian failure and ovarian autoimmunity. Endocr Rev . 1997 Feb. 18(1):107-34. . Johnson J, Canning J, Kaneko T, Pru JK, Tilly JL. Germline stem cells and follicular renewal (...) testing and genetic counseling for fragile X-associated disorders. J Genet Couns . 2007 Oct. 16(5):593-606. . Meyers CM, Boughman JA, Rivas M, Wilroy RS, Simpson JL. Gonadal (ovarian) dysgenesis in 46,XX individuals: frequency of the autosomal recessive form. Am J Med Genet . 1996 Jun 28. 63(4):518-24. . Miller ME, Chatten J. Ovarian changes in ataxia telangiectasia. Acta Paediatr Scand . 1967 Sep. 56(5):559-61. . Münster K, Helm P, Schmidt L. Secondary amenorrhoea: prevalence and medical contact

2014 eMedicine.com

143. Ataxia with Identified Genetic and Biochemical Defects (Follow-up)

atrophy [DRPLA]) Autosomal recessive Triplet repeat disorders (eg, Friedreich ataxia) Impaired DNA repair mechanisms (eg, xeroderma pigmentosum, Cockayne syndrome) Enzyme defects (eg, Refsum disease, sphingolipidosis) Protein misfolding (eg, spastic ataxia of Charlevoix-Saguenay) Maternal inheritance - Mitochondrial disorders (eg, neuropathy, ataxia, retinitis pigmentosa [NARP]) Ataxias with polymyoclonus and seizures Autosomal recessive Dodecamer repeat expansions (eg, Baltic myoclonus) Enzyme (...) defects (eg, neuronal ceroid lipofuscinosis) Maternal inheritance - Mitochondrial cytopathies (eg, myoclonic epilepsy with ragged-red fiber disease [MERRF]) Other (unidentified mechanisms) Angelman syndrome Fragile X–related ataxia/tremor In summary, the authors suggest a system of classification based on clinical features as the first distinction, mode of inheritance as the second distinction, and pathogenetic mechanisms as the third distinction. Although far from an ideal system, it serves to bring

2014 eMedicine.com

144. Spontaneous Primary Ovarian Insufficiency and Premature Ovarian Failure (Diagnosis)

, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, et al. Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency. Hum Reprod . 2015 Nov 3. . Bardoni B, Mandel JL, Fisch GS. FMR1 gene and fragile X syndrome. Am J Med Genet . 2000 Summer. 97(2):153-63. . Murray A, Schoemaker MJ, Bennett CE, Ennis S, Macpherson JN, Jones M, et al. Population-based (...) . Autoimmune endocrinopathies in female reproductive dysfunction. Volpe R, ed. Contemporary Endocrinology: Autoimmune Endocrinopathies . Totowa , NJ: Humana Press; 1999. 365-91. Gordon CM, Nelson LM. Amenorrhea and bone health in adolescents and young women. Curr Opin Obstet Gynecol . 2003 Oct. 15(5):377-84. . Hagerman RJ, Hagerman PJ. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev . 2002 Jun. 12(3):278-83. . Hagerman RJ, Leavitt BR, Farzin F, et al. Fragile-X-associated tremor

2014 eMedicine.com

145. Ataxia with Identified Genetic and Biochemical Defects (Diagnosis)

atrophy [DRPLA]) Autosomal recessive Triplet repeat disorders (eg, Friedreich ataxia) Impaired DNA repair mechanisms (eg, xeroderma pigmentosum, Cockayne syndrome) Enzyme defects (eg, Refsum disease, sphingolipidosis) Protein misfolding (eg, spastic ataxia of Charlevoix-Saguenay) Maternal inheritance - Mitochondrial disorders (eg, neuropathy, ataxia, retinitis pigmentosa [NARP]) Ataxias with polymyoclonus and seizures Autosomal recessive Dodecamer repeat expansions (eg, Baltic myoclonus) Enzyme (...) defects (eg, neuronal ceroid lipofuscinosis) Maternal inheritance - Mitochondrial cytopathies (eg, myoclonic epilepsy with ragged-red fiber disease [MERRF]) Other (unidentified mechanisms) Angelman syndrome Fragile X–related ataxia/tremor In summary, the authors suggest a system of classification based on clinical features as the first distinction, mode of inheritance as the second distinction, and pathogenetic mechanisms as the third distinction. Although far from an ideal system, it serves to bring

2014 eMedicine.com

146. Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions Full Text available with Trip Pro

premutation allele in a multigenerational family, identified through newborn screening for fragile X syndrome. Transmission of the premutation allele was traced through five generations in 14 of the 23 individuals who were genotyped through cascade testing. Allele size instability during transmission was observed, but no expansions to a full mutation were detected. Clinical and molecular characterizations of the participants lead to the diagnosis of fragile X-associated tremor ataxia syndrome in one (...) Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions The CGG repeat within the premutation range in the fragile X mental retardation 1 (FMR1) gene can lead to neurodegenerative disorders and intellectual disabilities. An increase in size upon the transmission from parent to child is more likely to occur for larger alleles and without AGG interruptions. We describe the molecular structure and the transmission of an FMR1

2013 Journal of Human Genetics

147. Current Gaps in Understanding the Molecular Basis of FXTAS Full Text available with Trip Pro

Current Gaps in Understanding the Molecular Basis of FXTAS Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with defining clinical features that include kinetic tremor, gait ataxia, and parkinsonism, with associated features spanning medical, cognitive, and psychiatric clinical domains. The emerging model for the pathogenesis of FXTAS is that of RNA toxicity as a consequence of the sequestration of RNA binding proteins by the expanded CGG-repeat element within

2012 Tremor and Other Hyperkinetic Movements

148. Prevalence of CGG Expansions of the FMR1 Gene in a US Population-Based Sample Full Text available with Trip Pro

). A secondary study goal was to describe characteristics of individuals found to have the premutation (n = 30, 7 males and 23 females). We found that premutation carriers had a significantly higher rate of divorce than controls, as well as higher rates of symptoms that might be indicative of fragile X-associated tremor ataxia syndrome (FXTAS; numbness, dizziness/faintness) and fragile X primary ovarian insufficiency (FXPOI; age at last menstrual period). Although not statistically significant, premutation

2012 American Journal of Medical Genetics

149. FXTAS: New insights and the need for revised diagnostic criteria. (Abstract)

FXTAS: New insights and the need for revised diagnostic criteria. Fragile X-associated tremor ataxia syndrome (FXTAS) is defined by FMR1 premutation, cerebellar ataxia, intentional tremor, and middle cerebellar peduncle (MCP) hyperintensities. We delineate the clinical, neurophysiologic, and morphologic characteristics of FXTAS.Clinical, morphologic (brain MRI, (123)I-ioflupane SPECT), and neurophysiologic (tremor recording, nerve conduction studies) study in 22 patients with FXTAS, including 4 (...) women.A total of 43% of patients had no family history of fragile X syndrome (FXS), which contrasts with previous FXTAS series. A total of 86% of patients had tremor and 81% peripheral neuropathy. We identified 3 electroclinical tremor patterns: essential-like (35%), cerebellar (29%), and parkinsonian (12%). Two electrophysiologic patterns evocative of non-length-dependent (56%) and length-dependent sensory neuropathy (25%) were identified. Corpus callosum splenium (CCS) hyperintensity was as frequent

2012 Neurology

150. CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis. Full Text available with Trip Pro

known to cause spinocerebellar ataxia type 2, has been identified as a major risk factor for sporadic ALS. Intermediate repeat expansions in the fragile X mental retardation 1 (FMR1) gene (55-200 repeats) are known to cause fragile X-associated premature ovarian insufficiency [(FX)POI; female carriers] or fragile X-associated tremor/ataxia syndrome (FXTAS; male carriers) by CGG-mediated RNA toxicity. The present investigation involves screening FMR1 repeat length in 742 sporadic ALS patients and 792

2012 Neurobiology of Aging

151. Initiation of translation of the FMR1 mRNA occurs predominantly through 5′end-dependent ribosomal scanning Full Text available with Trip Pro

Initiation of translation of the FMR1 mRNA occurs predominantly through 5′end-dependent ribosomal scanning The fragile X mental retardation 1 (FMR1) gene contains a CGG repeat within its 5' untranslated region (5'UTR) that, when expanded to 55-200 CGG repeats (premutation allele), can result in the late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome. The CGG repeat is expected to form a highly stable secondary structure that is capable of inhibiting 5'-cap

2011 Journal of Molecular Biology

152. Cellular toxicity of expanded RNA repeats: focus on RNA foci Full Text available with Trip Pro

Cellular toxicity of expanded RNA repeats: focus on RNA foci Discrete and punctate nuclear RNA foci are characteristic molecular hallmarks of pathogenesis in myotonic dystrophy type 1 and type 2. Intranuclear RNA inclusions of distinct morphology have also been found in fragile X-associated tremor ataxia syndrome, Huntington's disease-like 2, spinocerebellar ataxias type 8, type 10 and type 31. These neurological diseases are associated with the presence of abnormally long simple repeat (...) expansions in their respective genes whose expression leads to the formation of flawed transcripts with altered metabolisms. Expanded CUG, CCUG, CGG, CAG, AUUCU and UGGAA repeats are associated with the diseases and accumulate in nuclear foci, as demonstrated in variety of cells and tissues of human and model organisms. These repeat RNA foci differ in size, shape, cellular abundance and protein composition and their formation has a negative impact on cellular functions. This review summarizes the efforts

2011 Human molecular genetics

153. Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target Full Text available with Trip Pro

architectures and stabilities. We show that repeats capable of forming hairpin structures are overrepresented in exons, which implies that they may have important functions. We further describe long triplet repeat RNA as a pathogenic agent by presenting human neurological diseases caused by triplet repeat expansions in which mutant RNA gains a toxic function. Prominent examples of these diseases include myotonic dystrophy type 1 and fragile X-associated tremor ataxia syndrome, which are triggered by mutant (...) CUG and CGG repeats, respectively. In addition, we discuss RNA-mediated pathogenesis in polyglutamine disorders such as Huntington's disease and spinocerebellar ataxia type 3, in which expanded CAG repeats may act as an auxiliary toxic agent. Finally, triplet repeat RNA is presented as a therapeutic target. We describe various concepts and approaches aimed at the selective inhibition of mutant transcript activity in experimental therapies developed for repeat-associated diseases.

2011 Nucleic acids research

154. The Natural History of Reproductive and Overall Health in Girls and Women With a Pre-Mutation in the FMR1 Gene; Creation of a Patient Registry

for as long as the study continues. Participants who have or develop primary ovarian insufficiency related to the FMR1 gene will also have tests to measure bone thickness and will have a vaginal ultrasound to examine the ovaries. These tests will be scheduled for a separate visit, and will be repeated every 5 years for the duration of the study. Condition or disease Fragile X Syndrome FMR1 Premutation Primary Ovairan Insufficiency Premature Ovarian Failure Premature Menopause Detailed Description (...) Syndrome (FXS), the most common form of heritable mental retardation. A pre-mutation in the FMR1 gene, defined as between 55 and 199 CGG repeats, is associated with POI in women and carries a risk of expanding to the full mutation in a woman s offspring, resulting in a child with FXS. POI that is associated with the FMR1 pre-mutation is known as Fragile X-associated POI ( FXPOI ). Approximately 20% of women with an FMR1 pre-mutation develop FXPOI. Importantly, it is not known why some women

2010 Clinical Trials

155. Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development Full Text available with Trip Pro

Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder caused by a premutation CGG-trinucleotide repeat expansion (55-200 CGG repeats) within the 5'-untranslated region of the FMR1 gene. Although FXTAS generally affects premutation carriers over 50 years of age, cognitive and psychological symptoms can appear in carriers during childhood, suggesting that the FMR1

2010 Human molecular genetics

156. Co-occurring diagnoses among FMR1 premutation allele carriers. Full Text available with Trip Pro

Co-occurring diagnoses among FMR1 premutation allele carriers. Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene (FMR1), primary ovarian insufficiency [fragile X-associated primary ovarian insufficiency (FXPOI)] and a tremor/ataxia syndrome [fragile X-associated tremor/ataxia disorder (FXTAS)], numerous studies have examined other potential co-morbid conditions, including neuropsychological deficits. Here, the frequency of self (...) -reported diagnoses obtained through medical history interviews from FMR1 premutation carriers and non-carriers aged 18-50 were analyzed. Study subjects included 537 women, 334 of whom carry the premutation and 151 men, 37 of whom carry the premutation. Men with the premutation did not report any medical conditions at higher rates compared with non-carriers, controlling for age, ethnicity/race, and household income. Women with the premutation reported mental health disorders [i.e. attention deficit

2010 Clinical Genetics

157. Motor and mental dysfunction in mother-daughter transmitted FXTAS. (Abstract)

Motor and mental dysfunction in mother-daughter transmitted FXTAS. Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neuropsychiatric degenerative disorder that occurs predominantly in male FMR1 premutation carriers. Recently, a broader FXTAS spectrum that, besides the core features of tremor and gait ataxia, also includes neuropsychiatric symptoms and neuropathy as further clinically relevant symptoms has been described among females. Herein 2 fragile X syndrome families (...) , neurologic, neuropsychiatric, psychological, cognitive, and neuroradiologic features description of 2 fragile X syndrome families with a mother-daughter FXTAS transmission in which dementia is present in both mothers.Although it is not yet clear to what extent FXTAS shortens lifespan, our findings show that FXTAS progresses from mild tremor and/or ataxia to disabling motor and cognitive impairment, compromising the patients' quality of life. Furthermore, our results show that FXTAS in women can also

2010 Neurology

158. Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome Full Text available with Trip Pro

Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome Fragile X premutation carriers are at risk for developing a late-onset, progressive neurodegenerative disorder termed fragile X-associated tremor/ataxia syndrome (FXTAS). A growing body of evidence suggests the characteristic excess CGG repeat containing FMR1 mRNA observed in premutation carriers is pathogenic and leads to clinical features of FXTAS. The current model suggests premutation mRNA transcripts can (...) induce the formation of intranuclear inclusions by the sequestration of RNA-binding proteins and other proteins. The sequestered proteins are prevented from performing their normal functions, which is thought to lead to the neuropathology-observed FXTAS. This paper discusses the existing evidence that microsatellite expansions at the level of RNA play a role in the disease pathogenesis of FXTAS and some of the approaches that may uncover downstream effects of expanded riboCGG expression.

2009 Future Neurology

159. Ectopic expression of CGG containing mRNA is neurotoxic in mammals Full Text available with Trip Pro

Ectopic expression of CGG containing mRNA is neurotoxic in mammals Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is a progressive neurodegenerative disorder that has been diagnosed in a substantial fraction of older male fragile X premutation carriers. Patients affected by FXTAS have elevated levels of ribo-rCGG repeat containing FMR1 mRNA with normal to slightly reduced levels of FMRP in blood leukocytes. Coupled with the absence of FXTAS in fragile X syndrome patients, this suggests

2009 Human molecular genetics

160. Mouse Models of Fragile X-Associated Tremor Ataxia Full Text available with Trip Pro

Mouse Models of Fragile X-Associated Tremor Ataxia To describe the development of mouse models of fragile X-associated tremor/ataxia (FXTAS) and the behavioral, histological and molecular characteristics of these mice.This paper compares the pathophysiology and neuropsychological features of FXTAS in humans to the major mouse models of FXTAS. Specifically, the development of a transgenic mouse line carrying an expanded CGG trinucleotide repeat in the 5'-untranslated region (5'-UTR) of the Fmr1 (...) yet, including white matter disease, hyperintensities in T2-weighted magnetic resonance imaging, and brain atrophy, although these are currently under investigation in our laboratories.The available mouse model has provided valuable insights into the molecular biology and pathophysiology of FXTAS and will be particularly useful for developing and testing new therapeutic treatments in the future.

2009 Journal of investigative medicine : the official publication of the American Federation for Clinical Research

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