Record Display for the EPA National Library Catalog

RECORD NUMBER: 27 OF 29

Main Title The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) [electronic resource] /
Type EBOOK
Author Tassone, Flora.
Other Authors
Author Title of a Work
Berry-Kravis, Elizabeth M.
Publisher Springer New York : Imprint: Springer,
Year Published 2010
Call Number QH431
ISBN 9781441958051
Subjects Medicine ; Human genetics ; Neurosciences
Internet Access
Description Access URL
http://dx.doi.org/10.1007/978-1-4419-5805-1
Collation XVI, 188 p. online resource.
Notes
Due to license restrictions, this resource is available to EPA employees and authorized contractors only
Contents Notes
Clinical Neurological Phenotype of FXTAS -- The Epidemiology of FXTAS -- FXTAS: Neuropsychological/Neuropsychiatric Phenotypes -- Radiological Findings in FXTAS -- The Pathology of FXTAS -- The Molecular Biology of FXTAS -- Genotype/Phenotype Relationships in FXTAS -- Animal Models for FXTAS -- Treatment and Management of FXTAS -- Genetic Counseling for FXTAS and FMR1-Associated Disorders. In The 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.