神経疾患における遺伝的成因

Genetic causes in neurological diseases

　遺伝性神経疾患は多いが，その研究が記述の域を脱し，診療・予防に遺伝学の原理が実効を挙げはじめたのは最近のことである。本特集では方法論に重点をおいてこの分野を展望するが，本稿は，いわばその序論である．

Abstract

This is an introductory remark for the papers in this volume. Along with a decline of extrinsic causes, intrinsically-caused diseases are becoming more prevalent in neurological practice. Four major mechanisms are classified in the genetic causation of neurological disorders ; single gene inheritance, chromosome anomalies, multifactorial inheritance and inherited predisposition to the external agents normally tolerable. About 1/4 of known monomeric traits show neuropsychiatric symptoms, including a substantial portion of the inborn errors of metabolism.