title: 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.
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.
authors.affiliation: Department of Neurology, Shonai Hospital, 4-20 Izumimachi, Tsuruoka, and Department of Pathology, Brain Research Institute, University of Niigata, Japan. tagawa@ncnp.go.jp
authors.forename: Asako
authors.initials: A
authors.lastname: Tagawa
authors.forename: Chun-Feng
authors.initials: CF
authors.lastname: Tan
authors.forename: Koki
authors.initials: K
authors.lastname: Kikugawa
authors.forename: Masayuki
authors.initials: M
authors.lastname: Fukase
authors.forename: Ryoichi
authors.initials: R
authors.lastname: Nakano
authors.forename: Osamu
authors.initials: O
authors.lastname: Onodera
authors.forename: Masatoyo
authors.initials: M
authors.lastname: Nishizawa
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Takahashi
mesh_terms: D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology*; D001921:Brain / Q000473:pathology / Q000648:ultrastructure; D005192:Family Health; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000378:metabolism / Q000473:pathology; D007564:Japan; D016631:Lewy Bodies / Q000378:metabolism / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000378:metabolism* / Q000648:ultrastructure; D009154:Mutation; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D014168:Transferrin / Q000378:metabolism; D025801:Ubiquitin / Q000378:metabolism*
chemical_list: C000606290:SOD1 protein, human; D014168:Transferrin; D025801:Ubiquitin; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1