The autosomal dominant cerebellar ataxias are each defined by progressive ataxia and variable association with other clinical findings (1). Numerous spinocerebellar ataxia (SCA) loci have been identified and several of the SCA genes have expansion of a CAG-repeat as the underlying mu ...
The expansion of trinucleotide CAG repeat sequences has been shown to be the underlying cause of eight human neurodegenerative disorders, including Huntington’ s disease (HD), spinal and bulbar muscular atrophy (SBMA), dentatorubral-pallidoluysian atrophy (DRPLA), Machado- ...
The use of recombinant DNA technology to clone, sequence, and express ion channels and transporters has powered an enormous acceleration in the understanding of structure-function relationships in these important proteins. Given that most ion channels reside in tissues that are lar ...
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder resulting from expansion (37 units) of a polyglutamine tract in huntingtin, a 350 kDa protein of unknown function (1). The N-terminal region of huntingtin contains the glutamine repeat, which is encoded by ex ...
The muscular dystrophies are a genetically heterogeneous group of disorders characterized by progressive wasting, weakness, and degeneration of the skeletal muscle. The types of muscular dystrophy have been classified according to clinical symptoms, disease progression, i ...
The fruit fly, Drosophila melanogaster, has been used extensively as an experimental model organism since the beginning of the last century. More recently, the concept of large-scale genetic mutagenesis screens has been applied. In the first such screen, 15 loci spread throughout the geno ...
Despite many shortcomings, a reductionist approach using cell culture paradigms to define basic principles underlying disease processes has considerable merit. One example of the utility of this approach is the expression of mutant forms of proteolipid protein 1 (PLP1) in transien ...
The development of molecular probes by using DNA sequences of differing sizes, complexity, and specificity, coupled with technological innovations such as multicolor fluorochromes, computerized signal amplification, and image analysis, makes fluorescent in situ hybridi ...
Imprinting is the naturally occurring functional inequality of alleles of a given gene reflecting their parental origin. Only one of the alleles (either maternal or paternal) is functional (producing mRNA) in an imprinted gene. Imprinted genes in the human genome have been identified and a ...
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). Neuropat ...
Animal models of disease in genetically manipulated mice are powerful tools in medical research, including the study of dementia. The time and expense required to make genetically altered mice is considerable, and the importance of this investment is amplified by the long time course of most ...
Transgenic mouse models of neurodegenerative diseases may have considerable commercial value. In many cases, that value is linked to the intellectual property rights associated with the model. This chapter discusses the protection of intellectual property, including patent, c ...
The neurochemical alterations underlying the cognitive and behavioral symptoms that constitute the clinical picture of Alzheimer’s disease (AD), which should be reproduced by an animal model of the disease, are briefly described. The ideal animal model of AD and related dementias sho ...
Dementia is a clinical diagnosis; however, none of the clinical scales guarantee high sensitivity or specificity. Therefore, neuroimaging is often crucial for proper assessment. The most typical neurological symptoms of dementia are often discerned using computed X-ray tomogra ...
Alzheimer’s disease (AD) and frontotemporal dementia (FTD) are two most common forms of presenile dementia where insoluble protein deposits as intra- or extracellular aggregates. During the past decade, a number of mouse models have been devised based on human mutant genes associated wi ...
The development of complex disease models requires the parallel development or optimization of valid behavioral paradigms assessing complex brain-behavior relations. Besides validity of the applied paradigm, standardization at the level of experimental animals, testing ...
The field of Alzheimer’s disease (AD) research has been quite fortunate – in contrast to some other neurodegenerative psychiatric diseases – in that a number of animal models have been developed based on genetic and neuropathological information. These animal models have been “validat ...
In the quest for understanding human neurodegenerative disorders, a variety of organisms have been used to create disease models. Because of its many advantages, Drosophila melanogaster is currently being used to model many human conditions including poly Q expansion disorders such ...
Zebrafish, a freshwater tropical fish, is a premiere model organism to study vertebrate development. Fast external development and transparency during embryogenesis allow for visual screening at the macroscopical and microscopical level, including visualization of organ ...
The free living nematode worm Caenorhabditis elegans (C. elegans) has been extensively studied by biological, agricultural, and medical scientists for over 40 years. The animal has several characteristics that make it useful as a model organism. For example, the nematodes are transpar ...
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