FXTAS, FXPOI, and Other Premutation Disorders / edited by Flora Tassone, Deborah A. Hall.

Format:

Book

Contributor:

Tassone, Flora, editor.

Hall, Deborah A., editor.

SpringerLink (Online service)

Language:

English

Subjects (All):

Medicine.

Human genetics.

Molecular biology.

Neurosciences.

Physical Description:

1 online resource

Edition:

Second edition 2016.

Contained In:

Springer eBooks

Place of Publication:

Cham : Springer International Publishing : Imprint: Springer, 2016.

System Details:

text file PDF

Summary:

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 the identification of new markers to predict disease risk and eventually lead to target treatments. The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders 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.

Contents:

1.Clinical Neurological Phenotype of FXTAS

2.The Epidemiology of FXTAS

3.FXTAS: Neuropsychological and Neuropsychiatric Phenotypes

4.Neuroimaging Findings in FXTAS

5.The Pathology of FXTAS

6.The Molecular Biology of FXTAS

7.Genotype/Phenotype Relationships in FXTAS

8.Mouse Models for FXTAS and the Fragile X Premutation

9.Treatment and Management of FXTAS

10.Clinical manifestation and management of FXPOI

11.Model systems for understanding FXPOI

12.Premutation-Associated Disorders in Childhood and Adulthood

13.Genetic Counseling for FXTAS and Fragile X-associated disorders. .

Other Format:

Printed edition:

ISBN:

9783319338989

Access Restriction:

Restricted for use by site license.