[Gene diagnosis of hereditary neurological disorders]

The pathogenesis of hereditary neurological diseases has long been considered very difficult to understand and most neurologists have made diagnosis mainly on the basis of clinical findings. However, modern approaches using DNA studies have revealed the molecular basis of these disorders, and the gene analysis has been demonstrated to be a powerful tool for the diagnosis and classification of the disease. Additionally, the polymerase chain reaction (PCR) has greatly contributed to the wide expansion of the DNA study in the clinical field. This paper describes the usefulness of gene analysis in hereditary neurological disorders, and especially for muscular dystrophy, mitochondrial myopathy and familial amyloid polyneuropathy, recent advances including the causative gene abnormalities are also summarized.