著明な日内変動を呈する遺伝性進行性ジストニアの臨床，病態および分子遺伝学

GTP cyclohydrolase I in inherited dystonia and its pathophysiological importance

　近年，分子遺伝学の急速な進歩に伴い，多くの神経疾患の遺伝子が見出されている。

　しかし，遺伝子の発見はただちに病態の解明につながらない。病態の解明には詳細な臨床所見の解析が不可欠であり，さらに，これは病因遺伝子を推察することにもつながる。

　GTP cyclohydrolase I (GCH-I) has been thought as a causative enzyme for hereditary progressive dystonia with marked diurnal fluctuation (HPD). Recent molecular biological studies revealed the gene for this enzyme, located on 14q22.1-q22.2, as the causative gene for GCH-in inherited dystonia and its pathophysiological importance.

　HPD is an autosomally dominantly inherited postural dystonia with onset in childhood and is clinically characterized by marked diurnal fluctuation of symptoms and marked and sustained response to levodopa without levodopa induced dyskinesia or any other side effects.