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Fragile X-Associated Tremor-Ataxia Syndrome

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161. Autism

, and cognitive skills that arise in the?rst years of life. Although frequently associated with intellectual disability, this condition is distinctive in its course, impact, and treatment. Autism spectrum disorder has a wide range of syndrome expression and its management presents particular challenges for clinicians. Individuals with an autism spectrum disorder can present for clinical care at any point in development. The multiple developmental and behavioral problems associated with this condition (...) physical ex- amination, a hearing screen, a Wood’s lamp ex- amination for signs of tuberous sclerosis, and genetic testing, which may include G-banded karyotype, fragile X testing, or chromosomal microarray. In a community sample of children with ASD, diagnostic yields were 2.5% for karyo- type testing, 0.57% for fragile X testing, and 24% for chromosomal microarray. 67 Chromosomal microarray has been recommended by medical geneticists as the standard of care for the initial evaluation of children

2014 American Academy of Child and Adolescent Psychiatry

162. Management of Thyroid Cancer

Management of Thyroid Cancer CLINICAL ENDOCRINOLOGY VOLUME 81 SUPPLEMENT 1 JULY 2014 THE CLINICAL JOURNAL OF THE SOCIETY FOR ENDOCRINOLOGY AND THE ENDOCRINE SOCIETY OF AUSTRALIA British Thyroid Association Guidelines for the Management of Thyroid CancerGuidelines for the management of thyroid cancer Third edition British Thyroid Association July 2014 Perros P, Colley S, Boelaert K, Evans C, Evans RM, Gerrard GE, Gilbert JA, Harrison B, Johnson SJ, Giles TE, Moss L, Lewington V , Newbold KL (...) Cathy Sturgeon for her contribution on calcitonin, Dr Alan Dodd for his contribution in grading some of the evidence and the patient leaders who worked on the patient information lea? ets: Judith Tay- lor (British Thyroid Foundation), Kate Farnell (Butter? y Thyroid Cancer Trust), Liz Glenister (Hypopara UK), Jo Grey (Association for Multiple Endocrine Neoplasia Disorders – AMEND), Janis Hickey (British Thyroid Foundation) and Helen Hobrough (Thyroid Cancer Support Group – Wales). The authors also

2014 British Thyroid Association

163. Guidelines for identification and management of substance use and substance use disorders in pregnancy

during pregnancy can lead to fetal alcohol syndrome and other harms such as spontaneous abortion, stillbirth, low birthweight, prematurity and birth defects. Use of alcohol and other drugs can also severely impair an individual’s functioning as a parent, spouse or partner, and trigger gender-based and domestic violence, thus significantly affecting the physical, mental and emotional development of children. Injecting drug use is also associated with an increased risk of transmission of HIV and viral (...) for the interpretation and use of the material lies with the reader. In no event shall the World Health Organization be liable for damages arising from its use. Design and layout: L ’IV Com Sàrl, Villars-sous-Yens, Switzerland. Printed by the WHO Document Production Services, Geneva, Switzerland.i Acknowledgements iii Glossary of terms used in these guidelines v Acronyms & abbreviations viii Executive summary x Introduction 1 Why these guidelines were developed 1 Existing relevant guidelines on related problems

2014 World Health Organisation Guidelines

164. HIV, viral hepatitis and STIs - a guide for primary care

– A GUIDE FOR PRIMARY HEALTH CARE iii HIV , VIRAL HEPATITIS & STIs A GUIDE FOR PRIMARY CARE 2014 EDITION EXPERT REFERENCE GROUP (EDITORIAL OVERSIGHT) Dr Michael Burke Nepean Sexual Health & HIV Clinic Ms Tracey Cabrie Victorian Infectious Diseases Service, Melbourne Health Associate Professor Ben Cowie Victorian Infectious Diseases Reference Laboratory, Royal Melbourne Hospital, University of Melbourne Professor Greg Dore The Kirby Institute, UNSW Australia Dr Seamus Duffy Tuggerah Medical Centre Dr (...) Gail Matthews The Kirby Institute, UNSW Australia Dr Ronald McCoy Royal Australian College of General Practitioners Dr Anna McNulty Sydney Sexual Health Centre Dr Catriona Ooi Western Sydney Sexual Health Centre and University of Sydney Associate Professor Simone Strasser Royal Prince Alfred Hospital, University of Sydney Mr David Youds Gladstone Road Medical Centre Dr Iryna Zablotska The Kirby Institute, UNSW Australiaiv HIV, VIRAL HEPATITIS AND STIs – A GUIDE FOR PRIMARY HEALTH CARE HIV, VIRAL

2014 Clinical Practice Guidelines Portal

165. Clinical implication of FMR1 intermediate alleles in a Spanish population. (PubMed)

Clinical implication of FMR1 intermediate alleles in a Spanish population. FMR1 premutation carriers (55-200 CGGs) are at risk of developing Fragile X-associated primary ovarian insufficiency as well as Fragile X-associated tremor/ataxia syndrome. FMR1 premutation alleles are also associated with a variety of disorders, including psychiatric, developmental, and neurological problems. However, there is a major concern regarding clinical implications of smaller CGG expansions known (...) as intermediate alleles (IA) or gray zone alleles (45-54 CGG). Although several studies have hypothesized that IA may be involved in the etiology of FMR1 premutation associated phenotypes, this association still remains unclear. The aim of this study was to provide new data on the clinical implications of IA. We reviewed a total of 17 011 individuals: 1142 with primary ovarian insufficiency, 478 with movement disorders, 14 006 with neurodevelopmental disorders and 1385 controls. Similar IA frequencies were

2018 Clinical Genetics

166. Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes. (PubMed)

Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes. Spinocerebellar ataxia (SCA) subtypes are often caused by expansions in non-coding regions of genes like SCA8, SCA10, SCA12 and SCA36. Other ataxias are known to be associated with repeat expansions such as fragile X-associated tremor ataxia syndrome (FXTAS) or expansions in the C9orf72 gene. When no mutation has been identified in the aforementioned genes next (...) of the fragile X mental retardation 1 gene (FMR1) revealed one patient with a premutation (>50 CGG repeats) and seven patients with alleles in the grey zone (41 to 54 CGG repeats).Altogether five patients showed 92 or more SCA8 CTA/CTG combined repeats. Our results support the assumption that smaller FMR1 gene expansions could be associated with the risk of developing neurological signs. The results do not support genetic testing for C9orf72 expansion in ataxia patients.

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2018 BMC Neurology

167. Tandem repeats mediating genetic plasticity in health and disease. (PubMed)

dementia, fragile X syndrome and other neurological disorders), and emerging data suggest that tandem repeat polymorphisms (TRPs) can also regulate gene expression in healthy individuals. TRPs in human genomes may also contribute to the missing heritability of polygenic disorders. A better understanding of tandem repeats and their associated repeatome, as well as their capacity for genetic plasticity via both germline and somatic mutations, is needed to transform our understanding of the role of TRPs (...) Tandem repeats mediating genetic plasticity in health and disease. Accumulating evidence suggests that many classes of DNA repeats exhibit attributes that distinguish them from other genetic variants, including the fact that they are more liable to mutation; this enables them to mediate genetic plasticity. The expansion of tandem repeats, particularly of short tandem repeats, can cause a range of disorders (including Huntington disease, various ataxias, motor neuron disease, frontotemporal

2018 Nature Reviews. Genetics

168. Acute Stroke in Middle Cerebellar Peduncle in a Patient With FXTAS (PubMed)

Acute Stroke in Middle Cerebellar Peduncle in a Patient With FXTAS Background: Fragile-X associated tremor/ataxia syndrome (FXTAS) is commonly associated with T2 hyperintensity in the middle cerebellar peduncles (MCP) on magnetic resonance imaging (MRI). However, ischemic stroke in the MCP in a patient with FXTAS has not previously been described. Case Description: A 61-year-old man with hypertension, sleep apnea, obesity, and FXTAS presented to the emergency department with 2 days of worsening (...) balance and nausea which began 2 days after chiropractic neck manipulation. Examination revealed new nystagmus and worsening dysmetria. Workup revealed an acute infarct in the left MCP, atherosclerotic narrowing of the V4 segment of the left vertebral artery, inadequately controlled hypertension, and a LDL of 127. Conclusion: Isolated MCP infarcts are rare and typically associated with hypoperfusion in the setting of vertebral artery disease and neck manipulation. We suspect that underlying

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2018 Frontiers in genetics

169. Quantitative Evaluation of Toxic Polyglycine Biosynthesis and Aggregation in Cell Models Expressing Expanded CGG Repeats (PubMed)

Quantitative Evaluation of Toxic Polyglycine Biosynthesis and Aggregation in Cell Models Expressing Expanded CGG Repeats Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expanded CGG (CGGexp) trinucleotides in the 5'UTR of the FMR1 gene encoding fragile X mental retardation protein (FMRP). The patients, with the number of the repeats ranging from 55 to 200, show specific manifestation of clinical symptoms that include intention tremor (...) , gait ataxia, cognitive deficits, and brain atrophy. Accumulation of toxic polyglycine (FMRpolyG), a by-product of the CGGexp repeat-associated non-ATG (RAN) translation, is considered to be one of the main factors triggering neurodegenerative processes in FXTAS patients. Nevertheless, the nature of the FMRpolyG-induced cell damage, especially in the context of its soluble and inclusion-associated forms, is still elusive. Targeting either biosynthesis, cellular stability or aggregation capacity

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2018 Frontiers in genetics

170. Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS? (PubMed)

Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS? Fragile X-associated tremor/ataxia syndrome (FXTAS) is a severe neurodegenerative movement disorder affecting over 40% of male and 16% of female FMR1 premutation carriers over the age of 50. However, there is a lack of prognostic biomarkers to aid early diagnosis and treatment planning. Therefore, this study aimed to assess the utility of the Magnetic Resonance Parkinson Index (MRPI) as a potential MRI biomarker for FXTAS

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2018 Frontiers in neuroscience

171. Studies of Brain and Body Interaction

such as Autism Spectrum Disorder(s), including those who may also have an ADHD (Attention-deficit/hyperactivity disorder) diagnosis, Asperger's Syndrome, Alzheimer's Disease, and/or Fragile X syndrome Condition or disease Autistic Disorders Spectrum Adhd Asperger Syndrome Alzheimer Disease Parkinson Tremor Essential Dementia, Alzheimer Type Lewy Body Dementia With Behavioral Disturbance (Disorder) Dementia With Lewy Bodies Dementia Frontal Detailed Description: What is the study for? The goal of this study (...) the inherent properties of the biorhythms of each person in order to build a proper neurotypical scale and measure the departure of several groups of subjects from this typical ranges. These include Autism Spectrum Disorder(s), ADHD (Attention-deficit/hyperactivity disorder) , Asperger's Syndrome, Alzheimer's Disease, and/or Fragile X syndrome. This study does not provide any recommendations of diagnosis or treatment. It is merely a characterization of the person's biorhythms across these conditions. What

2018 Clinical Trials

172. Pathological Study of a FMR1 Premutation Carrier With Progressive Supranuclear Palsy (PubMed)

Pathological Study of a FMR1 Premutation Carrier With Progressive Supranuclear Palsy Dual pathology in fragile X mental retardation 1 (FMR1) premutation carriers and fragile X-associated tremor/ataxia syndrome (FXTAS) patients is an emerging phenomenon. Although it includes atypical parkinsonism, neuropathological confirmation is very scarce. Here, we describe neuropathological findings for a female who suffered a severe parkinsonian syndrome with apraxia and supranuclear palsy. She died (...) , and neurons. This is, to best of our knowledge, the first report describing a pathologically confirmed progressive supranuclear palsy - corticobasal syndrome (PSP-CBS) variant case in a FMR1 premutation carrier.

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2018 Frontiers in genetics

173. The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers (PubMed)

The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers The fragile X premutation (PM) allele contains a CGG expansion of 55-200 repeats in the FMR1 gene's promoter. Male PM carriers have an elevated risk of developing neurological and psychiatric changes, including an approximately 50% risk of the fragile X-associated tremor/ataxia syndrome (...) the lowest end of the PM repeat range, and non-syndromic carriers assumed an intermediate position. The size of the CGG expansion was significantly correlated, across all three categories, with infratentorial and total wmhs and with all motor scores, and the FMR1 mRNA levels with all the wmh scores, whilst AMPK activity showed considerable elevation in the non-FXTAS combined group, decreasing in the FXTAS group, proportionally to increasing severity of the wmhs and tremor/ataxia. We conclude

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2018 Frontiers in genetics

174. Microglial cell activation and senescence are characteristic of the pathology FXTAS. (PubMed)

Microglial cell activation and senescence are characteristic of the pathology FXTAS. Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with premutation alleles of the FMR1 gene. Expansions of more than 200 CGG repeats give rise to fragile X syndrome, the most common inherited form of cognitive impairment. Fragile X-associated tremor/ataxia syndrome is characterized by cerebellar tremor and ataxia, and the presence of ubiquitin-positive (...) inclusions in neurons and astrocytes. It has been previously suggested that fragile X-associated tremor/ataxia syndrome is associated with an inflammatory state based on signs of oxidative stress-mediated damage and iron deposition.Determine whether the pathology of fragile X-associated tremor/ataxia syndrome involves microglial activation and an inflammatory state.Using ionized calcium binding adaptor molecule 1 and cluster differentiation 68 antibodies to label microglia, we examined the number

2018 Movement Disorders

175. Oral Complications of Chemotherapy and Head/Neck Radiation (PDQ®): Health Professional Version

radiation therapy; MASCC/ISOO = Multinational Association of Supportive Care in Cancer/International Society of Oral Oncology; RT = radiation therapy; VAS = visual analog scale. a Pain is common in patients with HNCs and is reported by approximately half of patients before cancer therapy, by 81% during therapy, by 70% at the end of therapy, and by 36% at 6 months posttreatment. The most common oral complications related to cancer therapies are mucositis, infection, salivary gland dysfunction, taste (...) interventions, and timely management of lesions. Assessment of oral status and stabilization of oral disease before cancer therapy are critical to overall patient care. Care should be both preventive and therapeutic to minimize risk for oral and associated systemic complications. Future research targeted at developing technologies is needed to: Reduce incidence and severity of oral mucositis. Improve infection management. Protect salivary gland function. Minimize risk of chronic sequelae. Development of new

2016 PDQ - NCI's Comprehensive Cancer Database

176. Unusual Cancers of Childhood Treatment (PDQ®): Health Professional Version

intrachromosomal rearrangements, are frequently found; among them, RET/PTC rearrangements are the most common.[ ] Genetic inheritance. Genetic inheritance plays a role in a subset of thyroid carcinomas. In children, medullary thyroid carcinoma is caused by a dominantly inherited or de novo gain-of-function mutation in the RET proto-oncogene associated with multiple endocrine neoplasia (MEN) type 2, either MEN2A or MEN2B, depending on the specific mutation.[ ] When occurring in patients with the MEN syndromes (...) , thyroid cancer may be associated with the development of other types of malignant tumors. (Refer to the section of the PDQ summary on for more information.) Family history. For thyroid carcinomas of follicular cells, only 5% to 10% are familial cancers. Of those, most familial cases are nonsyndromic, while only a minority occur in the setting of well-defined cancer syndromes with known germline alterations, including the following:[ , ] APC -associated polyposis. Carney complex. PTEN hamartoma tumor

2016 PDQ - NCI's Comprehensive Cancer Database

177. Genetics of Skin Cancer (PDQ®): Health Professional Version

that describe the evidence on each topic. Inheritance and Risk More than 100 types of tumors are clinically apparent on the skin; many are known to have familial and/or inherited components, either in isolation or as part of a syndrome with other features. and , which are known collectively as nonmelanoma skin cancer, are two of the most common malignancies in the United States and are often caused by sun exposure, although several hereditary syndromes and genes are also associated with an increased risk (...) of developing these cancers. is less common than nonmelanoma skin cancer, but 5% to 10% of all melanomas arise in multiple-case families and may be inherited in an autosomal dominant fashion. Associated Genes and Syndromes Several genes and hereditary syndromes are associated with the development of skin cancer. (BCNS, caused by pathogenic variants in and ) is associated with an increased risk of BCC, while syndromes such as , , , and are associated with an increased risk of SCC. The major tumor suppressor

2016 PDQ - NCI's Comprehensive Cancer Database

178. Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version

with von Hippel-Lindau disease. (Refer to the section in the PDQ summary on for more information.) Associated Genes and Syndromes MEN1, which is primarily associated with the development of , (NETs), and , is caused by germline pathogenic variants in the gene. The primary endocrine features of MEN2, which is subdivided into and , include (MTC); its precursor, ; ; and . MEN2 is caused by germline pathogenic variants in the gene. MEN4 is a rare syndrome with clinical features that overlap with the other (...) , in accordance with treatment for other familial syndromes such as MEN1. are also treated surgically. Preoperative management aimed at preventing catecholamine-induced complications of the surgery is common. The mainstay of is complete surgical resection of the tumor. The timing of the operation correlates with the presentation of the tumor. Thyroid cancers associated with FNMTC are also , commonly with a total thyroidectomy. Patients who undergo a total thyroidectomy must receive lifelong thyroid hormone

2016 PDQ - NCI's Comprehensive Cancer Database

179. Coeliac disease

or ataxia. Unexplained recurrent miscarriage or subfertility. Persistently raised liver function tests with unknown cause. Dental enamel defects. Down's syndrome or Turner syndrome. Blood samples should be sent for coeliac disease serology in children and young people: immunoglobulin A (IgA) tissue transglutaminase antibody (tTGA) and total IgA first-line. IgA endomysial antibody (EMA) can be used if IgA tTGA is unavailable, or in cases where it is weakly positive. Referral to a paediatrician (...) . Autoimmune thyroid disease. Irritable bowel syndrome in adults. A first-degree relative with coeliac disease. Consider for coeliac disease in a person with: A metabolic bone disorder such as osteomalacia or reduced bone mineral density. Unexplained peripheral neuropathy or ataxia. Unexplained recurrent miscarriage or subfertility. Persistent, unexplained raised liver function tests. Dental enamel defects. Down's syndrome or Turner syndrome. Consider if a person presents with new symptoms of coeliac

2016 NICE Clinical Knowledge Summaries

180. CGG Repeats in the 5'UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA Granules. (PubMed)

CGG Repeats in the 5'UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA Granules. CGG repeats in the 5'UTR of Fragile X Mental Retardation 1 (FMR1) RNA mediate RNA localization and translation in granules. Large expansions of CGG repeats (> 200 repeats) in FMR1, referred to as full mutations, are associated with fragile X syndrome (FXS). Smaller expansions (55-200 repeats), referred to as premutations, are associated with fragile X tremor ataxia syndrome (FXTAS (...) ) and fragile X premature ovarian insufficiency (FXPOI). TMPyP4 is a porphyrin ring compound that destabilizes CGG repeat RNA secondary structure. Here we show that exogenous CGG repeat RNA by itself, lacking the FMRP ORF, microinjected into hippocampal neurons is localized in RNA granules and inhibits translation of ARC RNA, which is localized in the same granules. TMPyP4 rescues translation of ARC RNA in granules. We also show that in human premutation fibroblasts with endogenous CGG repeat expansions

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2016 PLoS ONE

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