Genetic diseases, neurodegenerative

Introduction to the genetics of neurodegenerative disease 653 Methods to find neurodegenerative disease genes 654... 

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... 

Schizophrenia is not a neurodegenerative disease but there is some general neuropathology. There is also evidence for a genetic influence. In monozygotic twins with... 

For nearly 80% of patients with epilepsy, the underlying etiology is unknown.8 The most common recognized causes of epilepsy are head trauma and stroke. Developmental and genetic defects are the cause of about 5% of cases of epilepsy. Central nervous system (CNS) tumors, central nervous system infections, and neurodegen-erative diseases are other common causes. Other important causes of epilepsy are human immunodeficiency virus infection or neuro-cysticercosis infection, primarily occurring in Latin America. 

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. 

---