5 results
Contributors
-
- By Ammar Al-Chalabi, Thomas D. Bird, Vincenzo Bonifati, Alexis Brice, Kate Bushby, John Collinge, David Craufurd, Odile Dubourg, Rosalie E. Ferner, Sonia Gandhi, Mark Gardiner, Michael G. Hanna, John Hardy, Peter S. Harper, Dimitri M. Kullmann, Eric LeGuern, Robert McFarland, Simon Mead, Andrew Schaefer, Christopher E. Shaw, Una-Marie Sheerin, Jemeen Sreedharan, S. H. Subramony, Sarah J. Tabrizi, Robert Taylor, Doug Turnbull, Caroline A. Vance MBioch, Edward J. Wild, Nicholas W. Wood
- Nicholas Wood
-
- Book:
- Neurogenetics
- Published online:
- 05 May 2012
- Print publication:
- 12 April 2012, pp vi-viii
-
- Chapter
- Export citation
Chapter 14 - The neurofibromatoses and related disorders
- Nicholas Wood
-
- Book:
- Neurogenetics
- Published online:
- 05 May 2012
- Print publication:
- 12 April 2012, pp 212-228
-
- Chapter
- Export citation
-
Summary
This chapter provides a clinicians' guide to the key clinical, genetic, and treatment aspects of the main single-gene neurological channelopathies. It considers the major skeletal muscle channelopathies followed by the main CNS channelopathies. The periodic paralyses (PP) are disorders in which patients experience focal or generalized episodes of muscle weakness of variable duration. Hypokalemic periodic paralysis can also be caused by missense mutations in the voltage sensor of domain 2 of SCN4A. Expression studies indicate that the SCN4A mutations associated with hypo-PP cause loss of function of the channel. Many studies indicate a strong genetic contribution to the risk of developing idiopathic generalized epilepsy, as well as febrile seizures. Inherited variability in the coding sequence of the GABRD gene, encoding the subunit of GABAA receptors, has also been suggested to act as a susceptibility factor for generalized epilepsy.
Chapter 25 - Neurofibromatoses
- from Section 3 - Symptomatic epilepsy
- Edited by Simon D. Shorvon, Frederick Andermann, Renzo Guerrini
-
- Book:
- The Causes of Epilepsy
- Published online:
- 05 March 2012
- Print publication:
- 14 April 2011, pp 183-188
-
- Chapter
- Export citation
-
Summary
The developmental/congenital disorders are a gray area between core idiopathic and core acquired epilepsies, and their inclusion under the term symptomatic epilepsy reflects the inevitably artificial nature of all classification schemes. This chapter talks about epilepsy syndromes, temporal characteristics of acquired epilepsy, and provoked epilepsies. The term 'acquired' is used to refer to symptomatic epilepsies excluding the predominately genetic or developmental causes. The main reason for considering epilepsy a symptom is that there are so many different causes, and it is therefore perhaps ironical to note that the current classifications of epilepsy pay no heed to etiology at all, focused as they are on clinical and electrographic semiology. It is clear that the distinctive natures of the underlying pathological and physiological processes underlying symptomatic epilepsy after acute brain insults are very different from those underlying idiopathic epilepsy, and so are the clinical, therapeutic, and prognostic features.
Contributors
-
- By Jane E. Adcock, Yahya Aghakhani, A. Anand, Eva Andermann, Frederick Andermann, Alexis Arzimanoglou, Sandrine Aubert, Nadia Bahi-Buisson, Carman Barba, Agatino Battaglia, Geneviève Bernard, Nadir E. Bharucha, Laurence A. Bindoff, William Bingaman, Francesca Bisulli, Thomas P. Bleck, Stewart G. Boyd, Andreas Brunklaus, Harry Bulstrode, Jorge G. Burneo, Laura Canafoglia, Laura Cantonetti, Roberto H. Caraballo, Fernando Cendes, Kevin E. Chapman, Patrick Chauvel, Richard F. M. Chin, H. T. Chong, Fahmida A. Chowdhury, Catherine J. Chu-Shore, Rolando Cimaz, Andrew J. Cole, Bernard Dan, Geoffrey Dean, Alessio De Ciantis, Fernando De Paolis, Rolando F. Del Maestro, Irissa M. Devine, Carlo Di Bonaventura, Concezio Di Rocco, Henry B. Dinsdale, Maria Alice Donati, François Dubeau, Michael Duchowny, Olivier Dulac, Monika Eisermann, Brent Elliott, Bernt A. Engelsen, Kevin Farrell, Natalio Fejerman, Rosalie E. Ferner, Silvana Franceschetti, Robert Friedlander, Antonio Gambardella, Hector H. Garcia, Serena Gasperini, Lorenzo Genitori, Gioia Gioi, Flavio Giordano, Leif Gjerstad, Daniel G. Glaze, Howard P. Goodkin, Sidney M. Gospe, Andrea Grassi, William P. Gray, Renzo Guerrini, Marie-Christine Guiot, William Harkness, Andrew G. Herzog, Linda Huh, Margaret J. Jackson, Thomas S. Jacques, Anna C. Jansen, Sigmund Jenssen, Michael R. Johnson, Dorothy Jones-Davis, Reetta Kälviäinen, Peter W. Kaplan, John F. Kerrigan, Autumn Marie Klein, Matthias Koepp, Edwin H. Kolodny, Kandan Kulandaivel, Ruben I. Kuzniecky, Ahmed Lary, Yolanda Lau, Anna-Elina Lehesjoki, Maria K. Lehtinen, Holger Lerche, Michael P. T. Lunn, Snezana Maljevic, Mark R. Manford, Carla Marini, Bindu Menon, Giulia Milioli, Eli M. Mizrahi, Manish Modi, Márcia Elisabete Morita, Manuel Murie-Fernandez, Vivek Nambiar, Lina Nashef, Vincent Navarro, Aidan Neligan, Ruth E. Nemire, Charles R. J. C. Newton, John O'Donavan, Hirokazu Oguni, Teiichi Onuma, Andre Palmini, Eleni Panagiotakaki, Pasquale Parisi, Elena Parrini, Liborio Parrino, Ignacio Pascual-Castroviejo, M. Scott Perry, Perrine Plouin, Charles E. Polkey, Suresh S. Pujar, Karthik Rajasekaran, R. Eugene Ramsey, Rahul Rathakrishnan, Roberta H. Raven, Guy M. Rémillard, David Rosenblatt, M. Elizabeth Ross, Abdulrahman Sabbagh, P. Satishchandra, Swati Sathe, Ingrid E. Scheffer, Philip A. Schwartzkroin, Rod C. Scott, Frédéric Sedel, Michelle J. Shapiro, Elliott H. Sherr, Michael Shevell, Simon D. Shorvon, Adrian M. Siegel, Gagandeep Singh, S. Sinha, Barbara Spacca, Waney Squier, Carl E. Stafstrom, Bernhard J. Steinhoff, Andrea Taddio, Gianpiero Tamburrini, C. T. Tan, Raymond Y. L. Tan, Erik Taubøll, Robert W. Teasell, Mario Giovanni Terzano, Federica Teutonico, Suzanne A. Tharin, Elizabeth A. Thiele, Pierre Thomas, Paolo Tinuper, Dorothée Kasteleijn-Nolst Trenité, Sumeet Vadera, Pierangelo Veggiotti, Jean-Pierre Vignal, J. M. Walshe, Elizabeth J. Waterhouse, David Watkins, Ruth E. Williams, Yue-Hua Zhang, Benjamin Zifkin, Sameer M. Zuberi
- Edited by Simon D. Shorvon, Frederick Andermann, Renzo Guerrini
-
- Book:
- The Causes of Epilepsy
- Published online:
- 05 March 2012
- Print publication:
- 14 April 2011, pp ix-xvi
-
- Chapter
- Export citation
Neurofibromatosis
- from Medical topics
-
- By Rosalie E. Ferner, Guy's Hospital
- Edited by Susan Ayers, University of Sussex, Andrew Baum, University of Pittsburgh, Chris McManus, Stanton Newman, Kenneth Wallston, John Weinman, Robert West
-
- Book:
- Cambridge Handbook of Psychology, Health and Medicine
- Published online:
- 18 December 2014
- Print publication:
- 23 August 2007, pp 790-792
-
- Chapter
- Export citation
-
Summary
Neurofibromatosis 1 (NF1) is a common autosomal dominant disease with an estimated birth incidence of 1 in 2500 and a prevalence of 1 in 4000 (Huson et al., 1991). The principal and defining clinical features are café au lait patches, skinfold freckling, cutaneous neurofibromas (benign peripheral nerve sheath tumours), iris Lisch nodules (hamartomas) and characteristic bony dysplasia (Huson et al., 1988; National Institutes of Health Consensus Development Conference, 1988) (Table 1). The majority of patients are diagnosed by the age of three years. NF1 arises as a spontaneous mutation in 50% of individuals and there is a wide variety of disease expression in patients with NF1, even within families. Neurofibromatosis 1 is clinically and genetically distinct from the rare condition neurofibromatosis 2, which is characterized by bilateral vestibular schwannomas (benign tumours of the eighth cranial nerve), schwannomas involving other cranial nerves, spinal nerve roots and peripheral nerves and by central nervous system meningiomas and gliomas (Evans et al., 1992).
The gene for NF1 has been identified on chromosome 17q11.2 by positional cloning (Viskochil et al., 1990; Wallace et al., 1990) and the protein product is neurofibromin, which has high levels of expression in the brain and acts as a tumour suppressor (Gutmann et al., 1991). Neurofibromin reduces cell proliferation by promoting the inactivation of the protooncogene p21RAS, which has a major role in mitogenic intracellular signalling pathways.