神経疾患の遺伝子検査

Gene tests in clinical neurology

　神経疾患の臨床において遺伝子検査は重要な位置を占めており，2010年現在13疾患の遺伝子検査が保険収載されている．遺伝子検査においては，疾患の分子疫学を考慮に入れながら，変異の種類に応じた適切な解析方法を選択する必要がある．変異の同定は，確定診断に有用であるのみならず，遺伝子型表現型連関や分子病態の解明に寄与する．遺伝子検査における現在の課題は増大するニーズに応えるための診断システムの維持である．

Gene tests play an important role in clinical neurology.　In 2010, gene tests of thirteen neurological disorders are included in the health insurance list in Japan.　It is necessary to adopt appropriate methods for mutational analysis according to types of mutations by taking genetic epidemiology of each disorder into consideration.　Identification of causative mutations contributes not only to accurate molecular diagnosis but also to establishment of genotype-phenotype correlation and elucidation of molecular pathogenesis.　Present issues on the gene tests include the sustainability of mutational analysis systems which is capable to cope with the increasing demand for molecular diagnosis in clinical neurology.