MOLECULAR-BIOLOGY AND GENETICS OF HEREDIT ARY MOTOR AND SENSORY NEUROPATHIES

Hereditary neuropathies (HMSN) are among the most common genetic disea ses in neurology. Various mutations in different genes are known which lead to the most frequent hereditary neuropathies. These mutations co ncern proteins of the myelin of the peripheral nervous system, as well as a gap-junction protein expressed in peripheral nerves. The molecul ar mechanisms leading from gene mutation to disease phenotypes are not fully understood. Nowadays, we are able to use DNA analysis for sympt omatic, presymptomatic, and prenatal screening. The latter is of quest ionable value because of the variability in disease severity and outco me. Deeper insights into the molecular pathophysiology will, however, yield new therapeutic strategies in individual patients.