Joseph病の1例

A case of Joseph disease

　ポルトガル系白人にみられる常染色体優性遺伝の運動失調症であるJoseph病と，58歳の男性を診断した。家族歴では症例と同様な神経症状が父親，弟および妹とにみられた。両眼とも全方向に眼球運動制限があり，輻湊が障害されていた。両眼とも乳頭が退色し，黄斑変性があった。全身的に構語障害，深部反射亢進，失調性歩行があった。進行性の眼球運動障害は本症に多い所見であるが，本症例の眼底所見とJoseph病との関連は不明であった。

Joseph disease is characterized as an autosomal dominant hereditary ataxia. The majority of patients are Portuguese and are descendants from Azores island. The condition has been reported in several Japanese pedigrees. We diagnosed a 58 -year-old male as Joseph disease.

Slowly progressive visual disturbance had been noted since 20 years before. His father, brother and sister were suffering from the same disease. Thepatient manifested limitation of vertical horizontal gaze and convergence insufficiency. Pallor of the optic disc and macular degeneration were present bilaterally. Systemically, he showed dysarthria, brisk deep tendon reflexes and ataxia. We could not ascertain whether the funuds manifestations were integral components of Joseph disease in this patient.