進行性の偽性球麻痺を呈し，上位運動ニューロン障害が顕著な筋萎縮性側索硬化症の剖検例

An Autopsy Case of Amiotrophic Lateral Sclerosis Characterized by Upper Motor Neuron Degeneration and Progressive Pseudobulbar Palsy

症例は死亡時62歳の男性。歩行困難・構音障害で発症し，進行性の偽性球麻痺，上位運動ニューロン障害が顕著であったことと，針筋電図で脱神経所見を認めたことより，上位運動ニューロン障害が強い筋萎縮性側索硬化症と臨床診断した。病理所見では，上位運動ニューロンの変性が高度で，下位運動ニューロンの変性が軽微であり，臨床症状とおおむね対応した。認知症と考えられる症状と短い変性神経突起を主徴とするTDP-43陽性構造物の分布との相関を含め，文献的考察を加え報告する。

Abstract

This is a case report of autopsy findings for a male Japanese patient who presented with progressive gait disturbance and dysarthria. Neurological examination at the age of 61 years revealed pseudobulbar palsy and upper motor neuron disorder. The patient appeared unaware of his illness. Electrophysiological examination showed lower neuron damage. The patient was diagnosed with amyotrophic lateral sclerosis characterized by lower motor neuron damage. He died of pneumonia 2 years and 3 months after diagnosis. Neuropathological examination demonstrated severe degeneration of the upper neurons and mild degeneration of the lower neurons. Immunohistological examination indicated transactivation-responsive DNA-binding protein-43-positive pathology in the frontal and temporal lobes, amygdala, corpus striatum, and spinal cord. We believe the neuropathological findings correlate well with the clinical features. Furthermore, we also discuss the lesions involved in the patient's dementia.

(Received March 28, 2017; Accepted September 19, 2018; Published November 1, 2018)