Molecular genetics is having a profound impact in nosology, diagnostic procedures and the management of patients with neurological disease. In fact, many "classical" neurological diseases are genetic disorders exibiting either mendelian or mitochondrial inheritance. Furthermore, many multisystem genetic disorders manifest phenotypic expression in the nervous system., as do the complex diseases associated with mutations in the mitochondrial genome. All mendelian neurological diseases can be classified on the basis of the locus involved as well as the particular mutant allele at that locus. However, we see both genetic heterogeneity of neurological disorders, i.e. a unique phenotype associated with mutations in different gene, and phenotypic heterogeneity, i.e. mutations in the very same gene giving rise to different clinical expression. The goal of current genetic testing is information about the gene involved in a given patient or family with suspected neurogenetic disorder. Depending on whether a specific gene has been cloned and its sequence known and readily available or that the gene has been mapped but not yet identified a DNA-based diagnosis can be made through direct testing of the proband's DNA for a specific pathogenic mutation, or indirect testing of both the proband's DNA and critical relatives' DNA to detect, by the use of closely linked markers, whether the proband inherited the disease-carrying chromosome from the parents.
|Translated title of the contribution||The impact of molecular genetics in clinical neurology|
|Number of pages||8|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Oct 2002|
ASJC Scopus subject areas
- Clinical Neurology