近位筋優位遺伝性運動感覚ニューロパチー（HMSN-P）の神経病理

Abstract

Neuropathology of a case of Shiga pedigree with proximal-dominant hereditary motor and sensory neuropathy (HMSN-P) is reported. In the spinal cord, marked atrophy of anterior and posterior roots was found. Histologically, severe neuronal loss and gliosis were evident in the spinal anterior horns. Bunina bodies and hyaline inclusions were not seen. Neuronal loss and gliosis were mild in the hypoglossal and facial nuclei. Myelin pallor was evident in the posterior and lateral columns of the spinal cord. The posterior column, corticospinal tract and spinocerebellar tract showed loss of myelinated fibres and gliosis. In Clarke's nucleus, neuronal loss and gliosis were found. Dorsal root ganglion showed mild neuronal loss with a few Nageotte's nodules. In the precentral gyrus, mild loss of Betz cells and gliosis together with neurophagia were observed. In the iliopsoas muscle, islands of isolated muscle fibres can be seen against a background of fatty tissue. The sural nerve showed a markedly decreased number of large and small myelinated fibres without onion-bulb formation. Small infarctions were seen in the subcortical white matter, the basal ganglia, the brainstem and the cerebellum. Immunohistochemistry revealed ubiquitin-positive, TAR DNA-binding 43 kDa-positive, TFG-positive inclusions in the remaining LMNs.