The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)

The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)
ISBN-10
1441958053
ISBN-13
9781441958051
Category
Medical
Pages
188
Language
English
Published
2010-06-02
Publisher
Springer Science & Business Media
Authors
Flora Tassone, Elizabeth M. Berry-Kravis

Description

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.

Other editions

Similar books

  • Cassidy and Allanson's Management of Genetic Syndromes
    By Suzanne B. Cassidy, John C. Carey, Agatino Battaglia

    Lindsley AW, Saal HM, Burrow TA, Hopkin RJ, Shchelochkov O, Khandelwal P, Xie C, Bleesing J, Filipovich L, Risma K, Assa'ad AH, Roehrs PA, Bernstein JA (2016) Defects of B‐cell terminal differentiation in patients with type‐1 Kabuki ...

  • FXTAS, FXPOI, and Other Premutation Disorders
    By Flora Tassone, Deborah A. Hall

    This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI and their families, as well as presenting the molecular basis for disease that may lead to ...

  • Fragile-X Syndrome: Methods and Protocols
    By Dalit Ben-Yosef, Yoav Mayshar

    This volume discusses the latest technologies used to study all aspects of Fragile-X Syndrome (FXS).

  • The Causes of Epilepsy: Diagnosis and Investigation
    By Simon Shorvon, Renzo Guerrini, Steven Schachter

    Reflex Epilepsies: Progress in Understanding, Montrouge, France: J. Libbey Eurotext; 2004, 79–91. Marrosu F, Barberini L, Puligheddu M, et al. (2009) Combined EEG/fMRI recording in musicogenic epilepsy. Epilepsy Res 84:77–81.

  • The Fragile X Syndrome
    By Kay E. Davies

    This new book is an up-to-date review of the clinical, epidemiological, and cytogenetic aspects of the fragile X (Martin-Bell) syndrome--the most common genetic cause of mental retardation after Down syndrome....

  • The Carriers: What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery
    By Anne Skomorowsky

    Anne Skomorowsky reveals how this disorder afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics.

  • Ataxic Disorders
    By Sankara H. Subramony, Alexandra Dürr

    Beginning with an examination of the cerebellar region, and then progressing to a fresh perspective on the clinical aspects of the various forms of ataxia, this handbook gives clinicians a state-of-the-art reference for the management of ...

  • Neuroimaging in Developmental Clinical Neuroscience
    By Judith M. Rumsey, Monique Ernst

    Focusing on ontogeny, this text covers basic processes involved in both healthy and atypical maturation, and also addresses the range of neuroimaging techniques most widely used for studying children.

  • Handbook of Medical Hallucinogens
    By Jim Grigsby, Charles S. Grob

    This handbook reviews promising applications of psychedelics in treatment of such challenging psychiatric problems as posttraumatic stress disorder, major depression, substance use disorders, and end-of-life anxiety.

  • Cerebellar Disorders: A Practical Approach to Diagnosis and Management
    By Mario Ubaldo Manto

    This practical guide summarizes and evaluates current knowledge in the field of cerebellar disorders.