Format:
Online-Ressource
,
v.: digital
Edition:
Online-Ausg. Springer eBook Collection. Biomedical and Life Sciences Electronic reproduction; Available via World Wide Web
ISBN:
9781441958051
Content:
In Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments.
Note:
Includes bibliographical references and index
,
Preface; Acknowledgements; Contents; Contributors; 1 Clinical Neurological Phenotype of FXTAS; Introduction; Clinical Signs of FXTAS; Female Premutation Carriers; Natural History of FXTAS; Diagnosis of FXTAS; Summary and Future Perspectives; References; 2 The Epidemiology of FXTAS; Introduction; Prevalence of the Premutation in the General Population; Females; Males; Penetrance of FXTAS Among Premutation Carriers; Prevalence of the Premutation in Movement Disorder Populations; Estimating the Prevalence of FXTAS; FXTAS in Female Populations; Summary; References
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3 FXTAS: Neuropsychological/Neuropsychiatric PhenotypesIntroduction; Executive Cognitive Disorders in FXTAS; Phenotypic Gender Differences; Cognition Among Male Carriers of the FMR1 Premutation: Case Studies and Series; Comparison with Asymptomatic Carriers and Normal Controls; Neuropsychological Functioning Among Women with FXTAS; Similarity of Neuropsychological Findings in FXTAS to Other Disorders; Psychiatric Disorders in FXTAS; Summary; References; 4 Radiological Findings in FXTAS; Introduction; Radiological Signs in FXTAS; The MCP Sign; Abnormal Cortical White Matter Signal
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Cerebral AtrophyMRI Findings in Females with FXTAS; BrainMolecular Relationships; Brain Behavior Relationships; Findings in Brain Connectivity; Functional Brain Abnormalities; Summary; References; 5 The Pathology of FXTAS; Introduction; Intranuclear Inclusions; Brain Pathology; Gross Pathology; Microscopic Brain Pathology; Morphometric Analysis: Neuronal and Inclusion Counts; White Matter Pathology; Peripheral Nervous System; Autonomic System; Peripheral Nerve; Skeletal Muscle; Neuroendocrine; Summary; References; 6 The Molecular Biology of FXTAS; Introduction
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Clinical Involvement in FMR1 Premutation CarriersFMR1 Gene Structure; Higher FMR1 Transcription Rate in Premutation Alleles; ASFMR1 : The Antisense Transcript at the FMR1 Locus; Inclusion Formation; RNA Toxic Gain-of-Function Model; Disruption of the Lamin Architecture; Summary; References; 7 Genotype/Phenotype Relationships in FXTAS; Introduction; Genotype/Phenotype Correlation Among Men with the Premutation; Clinical Neurological Phenotype; Overview; FXTAS Rating Scale: Quantifying the Severity of Motor Signs of FXTAS; Neuropathy Rating Scale
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CATSYS: Quantifying Early Motor Symptoms of FXTASNerve Conduction Studies: Tools to Identify Additional Symptoms of FXTAS; Genotype/Phenotype Correlations with Clinical Neurological Measures; Cognitive Phenotype; General Intelligence; Executive Function; Genotype/Phenotype Correlations with Cognitive Measures; Psychiatric Phenotype; Genotype/Phenotype Correlations with Psychiatric Outcomes; Radiological Phenotype; Genotype/Phenotype Correlations with Radiological Outcomes; Pathology Phenotype; Genotype/Phenotype Correlations with Pathology Outcomes
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Genotype/Phenotype Correlations Among Women with the Premutation
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Electronic reproduction; Available via World Wide Web
Additional Edition:
ISBN 9781441958044
Language:
English
DOI:
10.1007/978-1-4419-5805-1
URL:
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