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An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation
Authors:Seika Nakamura  Reika Wate  Satoshi Kaneko  Hidefumi Ito  Mitsuaki Oki  Ayako Tsuge  Masato Nagashima  Shinya Asayama  Kengo Fujita  Masataka Nakamura  Hirofumi Maruyama  Hideshi Kawakami  Hirofumi Kusaka
Affiliation:1. Department of Neurology, Kansai Medical University, , Hirakata, Japan;2. Department of Neurology, Wakayama Medical University, , Wakayama, Japan;3. Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, , Hiroshima, Japan
Abstract:A 64‐year‐old man noticed weakness in his arms and dyspnea upon exertion. Four months later he was admitted to our hospital, where muscle atrophy and hyperactive deep tendon reflexes in the arms were observed upon examination. A needle electromyograph study revealed acute and chronic denervation in the extremities, and he was diagnosed as having amyotrophic lateral sclerosis (ALS). Seven months after onset of the disease, he died of respiratory failure. Neuropathologically, neuronal cell loss was observed in the motor cortex, hypoglossal nuclei, cervical and lumbar anterior horns and Clarke's nuclei. Some of the remaining neurons contained neurofilamentous conglomerate inclusions (CIs). A small number of Lewy body‐like hyaline inclusions (LBHIs) were also observed. No the Bunina bodies, skein‐like inclusions or basophilic inclusions were detectable. Tract degeneration was moderate in the dorsal and ventral spinocerebellar tracts, mild in the pyramidal tract, but not discerned in the posterior column. Immunohistochemical examinations revealed that the CIs were strongly positive for phosphorylated neurofilament and moderately positive for ubiquitin and Cu/Zn superoxide dismutase 1 (SOD1). Moreover, a number of phosphorylated tau protein‐positive globose neurofibrillary tangles (NFTs) and threads were observed in the periaqueductal gray matter, oculomotor nuclei and trochlear nuclei. Although the family history was negative for neuromuscular diseases, the neuropathological findings indicated features of familial ALS with a SOD1 mutation. In fact, DNA analysis of frozen‐brain tissue revealed the presence of the I113T SOD1 mutation. This case represents the first one of this mutation in a patient who showed CIs as well as LBHIs in the motor neurons at the same time, in addition to the NFTs in the mesencephalic tegmentum.
Keywords:familial amyotrophic lateral sclerosis  Lewy body‐like hyaline inclusion  neurofibrillary tangle  neurofilamentous conglomerate inclusion  sporadic amyotrophic lateral sclerosis
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