Familial amyotrophic lateral sclerosis: a SOD1-unrelated Japanese family of bulbar type with Bunina bodies and ubiquitin-positive skein-like inclusions in lower motor neurons |
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Authors: | Asako Tagawa Chun-Feng Tan Koki Kikugawa Masayuki Fukase Ryoichi Nakano Osamu Onodera Masatoyo Nishizawa Hitoshi Takahashi |
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Affiliation: | (1) Departments of Neurology and Pathology, Shonai Hospital, 4-20 Izumimachi, Tsuruoka 997-8515, Japan;(2) Department of Pathology, Brain Research Institute, University of Niigata, Niigata 951-8585, Japan;(3) Department of Neurology, Brain Research Institute, University of Niigata, Niigata 951-8585, Japan;(4) Department of Immunology, National Institute of Neuroscience, NCNP, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan |
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Abstract: | We describe a new family with adult onset amyotrophic lateral sclerosis (FALS), in which the disease was characterized clinically by relatively rapid progression of bulbar symptoms. Gene analysis of Cu/Zn superoxide dismutase (SOD1) performed in one patient showed no mutations. Autopsy of another patient demonstrated degenerative changes restricted to the upper and lower motor neuron systems; no evident changes were observed in the posterior column, Clarke’s column or spinocerebellar tracts. The presence of Bunina bodies and ubiquitin-positive skein-like inclusions in the lower motor neuron was of considerable interest. Cases of FALS with such pathological features are quite rare in the literature. Identification of the gene responsible for the disease is desirable in order to shed further light on the molecular pathology of not only familial, but also sporadic, ALS. |
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Keywords: | Amyotrophic lateral sclerosis Bulbar symptom Bunina body Ubiquitin-positive skein-like inclusion Cu/Zn superoxide dismutase (SOD1) |
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