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Fragile X-Associated Tremor-Ataxia Syndrome

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61. Deep Brain Stimulation for Tremor Associated with Underlying Ataxia Syndromes: A Case Series and Discussion of Issues (PubMed)

therapy.A retrospective database review was performed, searching for cases of ataxia where tremor and/or dystonia were addressed by utilizing DBS at the University of Florida Center for Movement Disorders and Neurorestoration between 2008 and 2011. Five patients were found who had DBS implantation to address either medication refractory tremor or dystonia. The patient's underlying diagnoses included spinocerebellar ataxia type 2 (SCA2), fragile X associated tremor ataxia syndrome (FXTAS), a case (...) Deep Brain Stimulation for Tremor Associated with Underlying Ataxia Syndromes: A Case Series and Discussion of Issues Deep brain stimulation (DBS) has been utilized to treat various symptoms in patients suffering from movement disorders such as Parkinson's disease, dystonia, and essential tremor. Though ataxia syndromes have not been formally or frequently addressed with DBS, there are patients with ataxia and associated medication refractory tremor or dystonia who may potentially benefit from

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2014 Tremor and Other Hyperkinetic Movements

62. X-inactivation in the clinical phenotype of fragile X premutation carrier sisters (PubMed)

X-inactivation in the clinical phenotype of fragile X premutation carrier sisters The purpose of this study is to describe a case series of 4 sisters with discordant clinical phenotypes associated with fragile X-associated tremor/ataxia syndrome (FXTAS) that may be explained by varying CGG repeat sizes and activation ratios (ARs) (the ratio of cells carrying the normal fragile X mental retardation 1 [FMR1] allele on the active X chromosome).Four sisters with premutation size FMR1 gene repeats

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2016 Neurology: Genetics

63. Assessment of tremor

(enhanced physiological tremor) Alcohol withdrawal (enhanced physiological tremor) Essential tremor Drug-induced tremor Multiple system atrophy Progressive supra-nuclear palsy Cortical basal degeneration Toxin-induced tremor Post-encephalitic parkinsonism Phaeochromocytoma (enhanced physiological tremor) Cerebellar tremor (multiple sclerosis, trauma, or stroke) Fragile X tremor ataxia syndrome (FXTAS) Orthostatic tremor Primary writing tremor Neuropathic tremor Wilson's disease Rubral tremor Psychogenic (...) tremor Contributors Authors Professor of Neurology and Neurosurgery University of Michigan Ann Arbor MI Disclosures KLC declares that he has no competing interests. Associate Professor of Neurology University of Michigan Ann Arbor MI Disclosures PD declares that he has no competing interests. Peer reviewers Chair Department of Neurology Co-Director of Parkinson's Disease & Movement Disorders Center Pennsylvania Hospital Frank and Gladys Elliott Professor of Neurology University of Pennsylvania School

2018 BMJ Best Practice

64. White matter microstructure, cognition, and molecular markers in fragile X premutation females. (PubMed)

White matter microstructure, cognition, and molecular markers in fragile X premutation females. To examine the interrelationships between fragile X mental retardation 1 (FMR1) mRNA and the FMR1 exon 1/intron 1 boundary methylation, white matter microstructure, and executive function, in women with a FMR1 premutation expansion (PM; 55-199 CGG repeats) and controls (CGG < 44).Twenty women with PM without fragile X-associated tremor/ataxia syndrome (FXTAS) and 20 control women between 22 and 54

2017 Neurology

65. Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation. (PubMed)

Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation. Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder typically affecting male premutation carriers with 55-200 CGG trinucleotide repeat expansions in the FMR1 gene after age 50. The aim of this study was to examine whether cerebellar and brainstem changes emerge during development or aging in late life. We retrospectively analyzed magnetic resonance

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2017 Neurobiology of Aging

66. Recent advances in assays for the Fragile X-related disorders (PubMed)

Recent advances in assays for the Fragile X-related disorders The fragile X-related disorders are a group of three clinical conditions resulting from the instability of a CGG-repeat tract at the 5' end of the FMR1 transcript. Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are disorders seen in carriers of FMR1 alleles with 55-200 repeats. Female carriers of these premutation (PM) alleles are also at risk of having a child who (...) has an FMR1 allele with >200 repeats. Most of these full mutation (FM) alleles are epigenetically silenced resulting in a deficit of the FMR1 gene product, FMRP. This results in fragile X Syndrome (FXS), the most common heritable cause of intellectual disability and autism. The diagnosis and study of these disorders is challenging, in part because the detection of alleles with large repeat numbers has, until recently, been either time-consuming or unreliable. This problem is compounded

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2017 Human Genetics

67. Assessment of ataxia

) Spinocerebellar ataxia 37 (SCA 37) Spinocerebellar ataxia 38 (SCA 38) Spinocerebellar ataxia 40 (SCA 40) Dentatorubral-pallido-luysian atrophy (DRPLA) Episodic ataxia type 1 Episodic ataxia type 2 Fragile-X tremor-ataxia syndrome (FXTAS) Mitochondrial cytopathy Niemann-Pick disease type C (NP-C) Contributors Authors Assistant Professor of Neurology The Ohio State University Columbus OH Disclosures BKC declares that she has no competing interests. Dr Barbara Kelly Changizi would like to gratefully acknowledge (...) Assessment of ataxia Assessment of ataxia - Differential diagnosis of symptoms | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Assessment of ataxia Last reviewed: February 2019 Last updated: January 2019 Summary Ataxia is a neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways. The list

2018 BMJ Best Practice

68. Three Faces of Fragile X. (PubMed)

Three Faces of Fragile X. Fragile X syndrome (FXS) is the first of 3 syndromes identified as a health condition related to fragile X mental retardation (FMR1) gene dysfunction. The other 2 syndromes are fragile X-associated primary ovarian insufficiency syndrome (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS), which together are referred to as fragile X-associated disorders (FXDs). Collectively, this group comprises the 3 faces of fragile X. Even though the 3 conditions share (...) a common genetic defect, each one is a separate health condition that results in a variety of body function impairments such as motor delay, musculoskeletal issues related to low muscle tone, coordination limitations, ataxia, tremor, undefined muscle aches and pains, and, for FXTAS, a late-onset neurodegeneration. Although each FXD condition may benefit from physical therapy intervention, available evidence as to the efficacy of intervention appropriate to FXDs is lacking. This perspective article

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2016 Physical therapy

69. Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency (PubMed)

, reduction in age of menopause, infertility, dizygotic twinning, and risk of having an offspring with a premutation or full mutation. Consequent chronic hypoestrogenism may result in impaired bone health and increased cardiovascular risk. Neuropsychiatric issues include risk of developing fragile X-associated tremor/ataxia syndrome, neuropathy, musculoskeletal problems, increased prevalence of anxiety, depression, and sleep disturbances independent of the stress of raising an offspring with fragile X (...) Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency Fragile X premutation carriers have 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Women with this premutation face many physical and emotional challenges in their life. Approximately 20% of these women will develop fragile X-associated primary ovarian insufficiency (FXPOI). In addition, they suffer from increased rates of menstrual dysfunction, diminished ovarian reserve

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2016 Journal of assisted reproduction and genetics

70. Clinically Significant Psychiatric Symptoms among Male Carriers of the Fragile X Premutation, with and without FXTAS, and the Mediating Influence of Executive Functioning (PubMed)

Clinically Significant Psychiatric Symptoms among Male Carriers of the Fragile X Premutation, with and without FXTAS, and the Mediating Influence of Executive Functioning To clarify the neuropsychiatric phenotype of fragile X-associated tremor/ataxia syndrome (FXTAS), and assess the extent to which it is mediated by the dysexecutive syndrome that is a major feature of the disorder.We examined the prevalence of clinically meaningful psychiatric symptoms among male carriers of the fragile X (...) premutation, with and without FXTAS, in comparison with men with a normal allele. Measures included the Neuropsychiatric Inventory (NPI), Symptom Checklist-90-R (SCL-90-R), and the Behavioral Dyscontrol Scale, a measure of executive functioning. Between-group differences were evaluated using logistic regression, followed by a mediation analysis with ordinary least squares regression to assess the contribution of dysexecutive syndrome to the observed psychiatric domains.Men with FXTAS showed higher rates

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2016 The Clinical neuropsychologist

71. The Fragile X Mental Retardation 1 Gene (FMR1): Historical Perspective, Phenotypes, Mechanism, Pathology, and Epidemiology (PubMed)

The Fragile X Mental Retardation 1 Gene (FMR1): Historical Perspective, Phenotypes, Mechanism, Pathology, and Epidemiology To provide an historical perspective and overview of the phenotypes, mechanism, pathology, and epidemiology of the fragile X-associated tremor/ataxia syndrome (FXTAS) for neuropsychologists.Selective review of the literature on FXTAS.FXTAS is an X-linked neurodegenerative disorder of late onset. One of several phenotypes associated with different mutations of the fragile X (...) mental retardation 1 gene (FMR1), FXTAS involves progressive action tremor, gait ataxia, and impaired executive functioning, among other features. It affects carriers of the FMR1 premutation, which may expand when passed from a mother to her children, in which case it is likely to cause fragile X syndrome (FXS), the most common inherited developmental disability.This review briefly summarizes current knowledge of the mechanisms, epidemiology, and mode of transmission of FXTAS and FXS, as well

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2016 The Clinical neuropsychologist

72. 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. (PubMed)

that contains PM repeat expansions, leading to FMRpolyG inclusions in brain and non-CNS tissues of fragile X-associated tremor/ataxia syndrome (FXTAS) patients.Ovaries of a woman with FXPOI and women without PM (controls), and ovaries from wild-type and exCGG-KI mice were analyzed by immunohistochemistry for the presence of inclusions that stained for ubiquitin and FMRpolyG . The ovaries from wild-type and exCGG-KI mice were further characterized for the number of follicles, Fmr1 mRNA levels and FMRP (...) 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. Does repeat-associated non-AUG (RAN) translation play a role in fragile X-associated primary ovarian insufficiency (FXPOI), leading to the presence of polyglycine containing protein (FMRpolyG)-positive inclusions in ovarian tissue?Ovaries of a woman with FXPOI and of an Fmr1 premutation (PM) mouse

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2015 Human Reproduction

73. Fragile X Syndrome (Diagnosis)

syndrome testing should be considered for women with premature ovarian failure, for older adults with ataxia or tremor that could be associated with fragile X-associated tremor/ataxia syndrome (FXTAS), and in children with autism, autism-spectrum disorder, or mental retardation. Some states are considering adding fragile X syndrome to their newborn screening programs. Public awareness about fragile X syndrome is increasing thanks to media attention, including an article in Time Magazine on June 26 (...) systems. Fragile X-associated tremor ataxia syndrome (FXTAS) has been reported in 33-46% of men older than 50 years and, less frequently (4-8%), in older women with premutations in the fragile X mental retardation ( FMR1 ) gene. Full mutations of this gene result in fragile X syndrome. Clinical features of FXTAS include incontinence, impotence, cerebellar ataxia, peripheral neuropathy, autonomic dysfunction/orthostatic hypotension, severe intention tremor, and other signs of neurodegeneration

2014 eMedicine Pediatrics

74. Fragile X Syndrome (Overview)

syndrome testing should be considered for women with premature ovarian failure, for older adults with ataxia or tremor that could be associated with fragile X-associated tremor/ataxia syndrome (FXTAS), and in children with autism, autism-spectrum disorder, or mental retardation. Some states are considering adding fragile X syndrome to their newborn screening programs. Public awareness about fragile X syndrome is increasing thanks to media attention, including an article in Time Magazine on June 26 (...) systems. Fragile X-associated tremor ataxia syndrome (FXTAS) has been reported in 33-46% of men older than 50 years and, less frequently (4-8%), in older women with premutations in the fragile X mental retardation ( FMR1 ) gene. Full mutations of this gene result in fragile X syndrome. Clinical features of FXTAS include incontinence, impotence, cerebellar ataxia, peripheral neuropathy, autonomic dysfunction/orthostatic hypotension, severe intention tremor, and other signs of neurodegeneration

2014 eMedicine Pediatrics

75. Unusual tremor syndromes: know in order to recognise. (PubMed)

of various unusual tremor syndromes in the adult and paediatric populations. The review comprised of a comprehensive online search using PubMed, Ovid database and Google Scholar to identify the available literature for each unusual tremor syndrome. The review includes fragile X-associated tremor/ataxia syndrome, spinocerebellar ataxia type 12, tremors caused by autosomal recessive cerebellar ataxias, myorhythmia, isolated tongue tremor, Wilson's disease, slow orthostatic tremor, peripheral trauma-induced (...) Unusual tremor syndromes: know in order to recognise. Tremor is a common neurological condition in clinical practice; yet, few syndromes are widely recognised and discussed in the literature. As a result, there is an overdiagnosis of well-known causes, such as essential tremor. Many important unusual syndromes should be considered in the differential diagnosis of patients with tremor. The objective of this review is to provide broad clinical information to aid in the recognition and treatment

2016 Neurosurgery and Psychiatry

76. Fxtas In An Unmethylated Mosaic Male With Fragile X Syndrome From Chile. (PubMed)

Fxtas In An Unmethylated Mosaic Male With Fragile X Syndrome From Chile. Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, parkinsonism and rapid onset of cognitive decline have not been reported in individuals with an unmethylated full mutation (FM). Here, we report a Chilean family affected with FXS, inherited from a parent carrier of an FMR1 unmethylated

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2013 Clinical Genetics

77. Neurological and Endocrine Phenotypes of Fragile X Carrier Women. (PubMed)

for molecular measures. Scales for movement disorders, neuropathy, cognitive function, psychiatric symptoms, sleep, and quality of life were completed. The average age of the women was 51 years (n = 46) and average CGG repeat size was 91 ± 24.9 in the FMR1 PMC women. Seventy percent of the PMC women had an abnormal neurological examination. PMC women had significantly higher scores on the Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) rating scale, more neuropathy, and difficulty with tandem gait (...) Neurological and Endocrine Phenotypes of Fragile X Carrier Women. Women who carry fragile X mental retardation 1 (FMR1)gene premutation expansions frequently report neurological or endocrine symptoms and prior studies have predominantly focused on questionnaire report of medical issues. Premutation carrier (PMC) women (n = 33) and non-carrier controls (n = 13) were recruited and evaluated by a neurologist, neuropsychologist, and endocrinologist. Blood and skin biopsies were collected

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2015 Clinical Genetics

78. Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders (PubMed)

for the proper translation of dendritic mRNAs in response to synaptic activation. There are two different pathological FMR1 allele classes that are distinguished only by the number of repeats. Premutation alleles have 55-200 repeats and confer risk of fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency. Full mutation alleles on the other hand have >200 repeats and result in fragile X syndrome, a disorder that affects learning and behavior. Different symptoms (...) Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders The fragile X-related disorders are members of the Repeat Expansion Diseases, a group of genetic conditions resulting from an expansion in the size of a tandem repeat tract at a specific genetic locus. The repeat responsible for disease pathology in the fragile X-related disorders is CGG/CCG and the repeat tract is located in the 5' UTR of the FMR1 gene, whose protein product FMRP, is important

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2015 Frontiers in genetics

79. Fragile X premutation carriers: A systematic review of neuroimaging findings.

Fragile X premutation carriers: A systematic review of neuroimaging findings. Expansion of the CGG repeat region of the FMR1 gene from less than 45 repeats to between 55 and 200 repeats is known as the fragile X premutation. Carriers of the fragile X premutation may develop a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS). Recent evidence suggests that premutation carriers experience other psychiatric difficulties throughout their lifespan.Medline, EMBASE (...) tasks in multiple regions.This systematic review may have been limited by the search for articles on just 3 scientific databases. Differing techniques and methods of analyses between research groups and primary research articles may have caused differences in results between studies.Current MRI studies into the fragile X premutation have been important in the diagnosis of FXTAS and identifying potential pathophysiological mechanisms. Associations with blood based measures have also demonstrated

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2015 Journal of the neurological sciences

80. Fragile X premutation carriers: A systematic review of neuroimaging findings.

Fragile X premutation carriers: A systematic review of neuroimaging findings. Expansion of the CGG repeat region of the FMR1 gene from less than 45 repeats to between 55 and 200 repeats is known as the fragile X premutation. Carriers of the fragile X premutation may develop a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS). Recent evidence suggests that premutation carriers experience other psychiatric difficulties throughout their lifespan.Medline, EMBASE (...) tasks in multiple regions.This systematic review may have been limited by the search for articles on just 3 scientific databases. Differing techniques and methods of analyses between research groups and primary research articles may have caused differences in results between studies.Current MRI studies into the fragile X premutation have been important in the diagnosis of FXTAS and identifying potential pathophysiological mechanisms. Associations with blood based measures have also demonstrated

2015 Journal of the neurological sciences

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