Shamim I. Ahmad
Nottingham Trent University
Nottingham, England

About this Book

* Presents an updated detailed account of some important additional diseases of DNA repair
* Maintains a balance between the DNA repair diseases that have been exhaustively studied, well-defined genetic defects in DNA repair system(s), and those diseases that shows a tangential association with DNA repair defects and hence warrant more studies
* Beneficial to the clinicians in treating their specialized cases

Since this book is geared to be used by varied groups of readers such as advanced students and instructors in the fields of biology and medicine, scientists and more importantly clinicians, it is considered important to provide brief accounts of the basics of DNA damage, repair, mutagenesis and cancer. The purpose of this book is to present an updated detailed account of some important additional diseases of DNA repair. It has not been possible to cover all the DNA repair deficient diseases in this volume, hence diseases such as Bloom’s syndrome, Werner’s syndrome, Nijmegen breakage syndrome, ataxia telangiectasia‑like disorder, RA D 50 deficiency, RIDDLE syndrome and others will be presented in a forthcoming volume.

This book is dedicated to a special person - Amy

Click here to read more...

Table of Contents

1. Triple‑A Syndrome
Vijaya Sarathi and Nalini S. Shah

2. Amyotrophic Lateral Sclerosis
J. Jefferson P. Perry, David S. Shin and John A. Tainer

3. Early‑Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia/Ataxia with Oculomotor Apraxia 1
Masayoshi Tada, Akio Yokoseki, Tatsuya Sato, Takao Makifuchi and Osamu Onodera

4. Clinical Features and Pathogenesis of Alzheimer’s Disease: Involvement of Mitochondria and Mitochondrial DNA
Michelangelo Mancuso, Daniele Orsucci, Annalisa LoGerfo, Valeria Calsolaro and Gabriele Siciliano

5. Huntington’s Disease
Emmanuel Roze, Cecilia Bonnet, Sandrine Betuing and Jocelyne Caboche

6. Clinical Features and Molecular Mechanisms of Spinal and Bulbar Muscular Atrophy (SBMA)
Masahisa Katsuno, Haruhiko Banno, Keisuke Suzuki, Hiroaki Adachi, Fumiaki Tanaka and Gen Sobue

7. Spinocerebellar Ataxia with Axonal Neuropathy
Cheryl Walton, Heidrun Interthal, Ryuki Hirano, Mustafa A.M. Salih, Hiroshi Takashima and Cornelius F. Boerkoel

8. Tuberous Sclerosis Complex and DNA Repair
Samy L. Habib

9. Hereditary Photodermatoses
Dennis H. Oh and Graciela Spivak

10. Trichothiodystrophy: Photosensitive, TTD‑P, TTD, Tay Syndrome
W. Clark Lambert, Claude E. Gagna and Muriel W. Lambert

11. Cornelia de Lange Syndrome
Jinglan Liu and Gareth Baynam

12. Rectal Cancer and Importance of Chemoradiation in the Treatment
Sergio Huerta

13. Familial Cutaneous Melanoma
Johan Hansson

14. Primary Immunodeficiency Syndromes
Mary A. Slatter and Andrew R. Gennery

15. Inherited Defects of Immunoglobulin Class Switch Recombination
Sven Kracker, Pauline Gardës and Anne Durandy

16. Ligase IV Syndrome
Dimitry A. Chistiakov

17. Muir‑Torre Syndrome
Pedro Mercader

18. Wilms’ Tumor
Carlos H. Martínez, Sumit Dave and Jonathan Izawa

19. Cerebro‑Oculo‑Facio‑Skeletal Syndrome
Hiroshi Suzumura and Osamu Arisaka

20. Dyskeratosis Congenita
Vineeta Gupta and Akash Kumar

21. Retinoblastoma
Dietmar Lohmann

22. Von Hippel Lindau Syndrome
Jenny J. Kim, Brian I. Rini and Donna E. Hansel