Scapulo-peroneal muscular atrophy. Full autopsy report. Unusual findings in the anterior horn of the spinal cord. Lipid storage in muscle

Abstract

Morphological findings of 3 cases of Kaeser's scapulo-peroneal muscular atrophy are described. 1 of them is the first complete autopsy report on this disease. While the number of motor neurons in the spinal cord was grossly normal, the neuropil of the anterior horn exhibited axonal swellings, accumulations of possibly pathological lipofuscin and intra-axonal corpora amylacea. In the muscles, changes were partly those of neurogenic atrophy, partly of a primary myopathy. There was also an accumulation of neutral fat in the muscle fibres, mainly of those of type I.