家族性筋萎縮性側索硬化症の1家系

A PEDIGREE OF FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS

I．はじめに

　最近われわれは家族性に発生した筋萎縮性側索硬化症の1家系について，三世代にわたる疾患の発生状況，およびそのうち1名の病歴観察をし，死後剖検を施行する機会を得たのでここに報告する。

This 31 year-old male patient was admitted to the Keio Univ. Hospital for the first time in January, 1962 with chief complaints of progres-sive weakness in the right arm and fascicu-lation in all extremities. The patient started to have weakness and muscular twitching in January, 1962. These symptomes gradually progressed without remission. Neurological examination on admission revealed marked weakness and atrophy in the right shoulder girdle. Deep tendon reflexes were diminished in all extremities without pathological reflex. Cranial nerves and sensory were intact. No improvement was made by various treatment. He was discharged in February, 1962. Three months later, he was readmitted with difficulty in breathing and swallowing and progressive weakness in extremities.

There was visible fasciculation of tongue and extremities. EMG on first admission re-vealed fibrillation, fasciculation potential and synchronization voltage in all tested muscles and diminished electrical discharge and low amplitude voltage in the left upper extremi-ties. Electrical silence was found in the right triceps muscles. The patient went downhill course, and dyspnea increased in spite of use of artificial respirator and tracheotomy and expired four weeks later, 1.5 years after the onset of the symptoms.

Autopsy showed severe degeneration of the lower motor neurons associated with advanced denervation atrophy in the skelletal muscles. The upper motor neurons also demonstrated similar but milder degeneration. The involve-ment of the left pyramidal system was sever-er than the right. The brain stem nuclei were also involved. In addition to the pyramidal tracts other tracts of the spinal cord seemed to be more or less involved.

Family History :

1. Grand mother (I-2)……onset of illness was 28 years old, died 1 year later.

2. Uncle (II-1)……………developed prog-ressive weakness at the age of 32 and deceased 8 years later

3. Father (II-3)……………-developed the disease at the age of 40 and deceased after 1.5 years later.

4. Eldest brother (III-1) (first)……………developed muscular atrophy at 34 years of age, now under treatment in other hospital.

5. Elder brother (second)……………deve-loped bulbar palsy at 30 years old and deceased 1.5 years later.

6. The case reported in this paper : 31 year old. (third son)

Three cases of difinite amyotrophic lateral sclerosis and other 3 cases with suspected motor neuron disease in the one family are briefly reported. Clinical observation and post-mortem examination was made on one of these patients. Familial occurrence of ALS is rare in Japan. Age of onset of these illness arc 28, 30, 30, 32, 34 and 40 years old respectively (32.3 in average) and the course of these cases are 1, 1.5, 1.5, 1.5 and 8 years in dura-tion and 4 males and 1 female in incidence. Two developed from upper and two from low-er extremities, one from both extremities and one from bulbar paralysis.

Hypothesis of hereditary occurrence of these cases were proposed.