遺伝性筋萎縮性側索硬化症の1例

A CASE OF HEREDITARY AMYOTROPHIC LATERAL SCLEROSIS

I．はじめに

　系統的変性疾患の多くは遺伝性・家族性発現を認めるにもかかわらず，筋萎縮性側索硬化症（以下ALSと略）は散発性で，遺伝性は認められないというのが通説であつた^1）2）3）。実際に，遺伝性・家族性ALSと思われる症例の報告はきわめてまれであつたが，近年，地域的調査（Mariana群島^4）〜8），紀伊半島^9）など）による疫学的研究が大々的に行なわれ，ALSの遺伝性・家族性が再認識されるようになつてきた。ALSの病因を知るためにも，今後この方面の研究の発展が望まれるのであるが，現近われわれが経験した症例は，その臨床症状，検査所見，家族歴から考えて，遺伝性ALSと思われるので，ここに報告する。

A 41-year-old male patient has noticed weak-ness of his right leg seven months ago which progressed rather rapidly and after three months of the onset muscular twitching has appeared in the both legs. Difficulty in walk-ing and muscular atrophy of his both legs have gradually developed.

Neurological examination revealed weak-ness and musculal atrophy of the lower extre-mities, fascicalation in the upper and lower extremities, hyperactive knee jerk and Babin-ski's sign on the left side and slight scolio-sis.Sensory change, motor ataxia,bladder dis-turbance and bulbar signs were not detected.

Electromyografic and histologic findings of muscle suggest neurogenic muscular atro-phy. Aldolase activity in the serum is within normal limits but creatine phospho-kinase activity is elevated moderately.

Patient's parents are consanguineous. His father and two siblings had suffered from quite similar disease and died after a rapid progression at the age of 42, 31, and 29 res-pectively. He has three other healthy siblings.

The clinical picture and laboratory findings suggest that this patient is suffering from atypical hereditary amyotrophic lateral scle-rosis.

Reported cases of hereditary amyotrophic lateral sclerosis in Japan are reviewd.