Neurodegenerative disorders genetics

Holmberg M, Duyckaerts C, Durr A, Cancel G, Gourfinkel An I, Damier P, Faucheux B, Trottier Y, Hirsch EC, Agid Y, Brice A. Spinocerebellar ataxia type 7 (SCA7) a neurodegenerative disorder with neuronal intranuclear inclusions. Hum Mol Genet 1998 7 913-918. 

A broad variety of diseases may cause neuropathic pain. The majority of diseases associated with neuropathic pain involve the peripheral nervous system. These diseases include traumatic injuries hereditary, metabolic, inflammatory or paraneoplastic neuropathies and infections. However, neuropathic pain can also be caused by injuries or disorders affecting the spinal cord or the brain (central neuropathic pain) tumors stroke epilepsy and neurodegenerative disorders [20]. Genetic factors appear to contribute to inter-individual differences in the susceptibility to neuropathic pain. 

RNAi has had an important impact on the development of novel disease models in animals, and it is likely that siRNAs, the trigger molecules for RNA silencing, will become an invaluable tool for the treatment of genetic disorders. The rational design of siRNAs, the introduction of chemical modifications into siRNAs to improve their pharmacokinetic and pharmacodynamic properties for in vivo application with high specificity, and the development of efficient delivery system will foster the therapeutic application of RNAi in AD and other neurodegenerative disorders (413,417). 

James JR, Nordberg A. 1995. Genetic and environmental aspects of the role of nicotinic receptors in neurodegenerative disorders emphasis on Alzheimer s disease and Parkinson s disease. Behav Gen 25 149-159. 

Genetic diseases can be divided into two main groups based on whether they are caused by relatively few common mutations or by many unique mutations. Tay-Sachs disease, a fatal neurodegenerative disorder caused by a deficiency of hexosaminidase A, is common in the Ashkenazi Jewish population. Three hexosaminidase mutations account for 96% of the disease in the Ashkenazi Jewish population (9). In contrast most patients with Fabry disease, a metabolic disorder caused by deficiency of the enzyme galactosi-dase A, have unique mutations in the galactosidase A gene (10). This... 

In further support of the important role of astrocytes in neurodegenerative disorders, the causative genes implicated in three leucodystrophies were recently characterized at the genetic level. Indeed the genes responsible for Alexander disease, CACH/VWM syndrome, and megalencephalic leukoencephalopathy with... 

Recent evidence has shown that genetics may contribute to the onset of neurodegenerative disorders (Li et al., 2002). Linkages to the age at onset (AAO) for PD have been identified... 

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