The Diagnostic Challenge Gene Dosage Disturbances in Myelin Disorders of the Peripheral and Central Nervous Systems

Isodicentric Ideogram

In this chapter, we describe in detail our implementation of FISH technologies in the diagnosis of three myelinopathies two neuropathies of the peripheral nervous system (PNS), Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) and one leukodystrophy of the central nervous system (CNS), Pelizaeus-Merzbacher disease (PMD), in which either duplication or deletion of a large DNA sequence with concomitant gene-dosage alteration has been...

M E T H O D S I N M O L E C U L A R B I O L O G Y

Functional Genomics Methods and Protocols, edited by Michael J. Brownstein and Arkady Khodursky, 2003 223. Tumor Suppressor Genes Volume 2 Regulation, Function, and Medicinal Applications, edited by Wafik S. El-Deiry, 2003 222. Tumor Suppressor Genes Volume 1 Pathways and Isolation Strategies, edited by Wafik S. El-Deiry, 2003 221. Generation of cDNA Libraries Methods and Protocols, edited by Shao-Yao Ying, 2003 220. Cancer Cytogenetics Methods and Protocols, edited by John Swansbury, 2003...

Frank Baas 1 Introduction

Over a century ago, the two French neurologists Charcot and Marie and the English neurologist Tooth described a peripheral neuropathy. They had defined a clinical entity, which is now known as Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy (HMSN). Neuropathies are diseases of the peripheral nervous system (PNS). Many of them are disorders with a genetic basis (hereditary motor and sensory neuropathy, HMSN) but geneticists still use the term Charcot-Marie-Tooth...