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Titolo:
Familial amyotrophic lateral sclerosis with onset in bulbar sign, benign clinical course, and Bunina bodies: a clinical, genetic, and pathological study of a Japanese family
Autore:
Tsuchiya, K; Shintani, S; Nakabayashi, H; Kikugawa, K; Nakano, R; Haga, C; Nakano, I; Ikeda, K; Tsuji, S;
Indirizzi:
Tokyo Metropolitan Matsuzawa Hosp, Dept Lab Med & Pathol, Setagaya Ku, Tokyo 1560057, Japan Tokyo Metropolitan Matsuzawa Hosp Tokyo Japan 1560057 kyo 1560057, Japan Tokyo Inst Psychiat, Dept Neuropathol, Tokyo, Japan Tokyo Inst Psychiat Tokyo Japan sychiat, Dept Neuropathol, Tokyo, Japan Toride Kyodo Hosp, Dept Neurol, Ibaragi, Japan Toride Kyodo Hosp IbaragiJapan Kyodo Hosp, Dept Neurol, Ibaragi, Japan Jikei Univ, Sch Med, Kashiwa Hosp, Dept Gen Internal Med, Chiba, Japan Jikei Univ Chiba Japan ashiwa Hosp, Dept Gen Internal Med, Chiba, Japan Niigata Univ, Brain Res Inst, Dept Neurol, Niigata 951, Japan Niigata Univ Niigata Japan 951 Res Inst, Dept Neurol, Niigata 951, Japan Jichi Med Sch, Dept Neurol, Minami Kawachi, Tochigi, Japan Jichi Med Sch Minami Kawachi Tochigi Japan inami Kawachi, Tochigi, Japan
Titolo Testata:
ACTA NEUROPATHOLOGICA
fascicolo: 6, volume: 100, anno: 2000,
pagine: 603 - 607
SICI:
0001-6322(200012)100:6<603:FALSWO>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
CU/ZN SUPEROXIDE-DISMUTASE; MULTISYSTEM DEGENERATION; HYALINE INCLUSIONS; POINT MUTATION; FEATURES; DISEASE; ALS;
Keywords:
bunina bodies; Cu/Zn superoxide dismutase; familial amyotrophic lateral sclerosis; neuropathology;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Tsuchiya, K Tokyo Metropolitan Matsuzawa Hosp, Dept Lab Med & Pathol, Setagaya Ku, 2-1-1 Kamikitazawa, Tokyo 1560057, Japan Tokyo Metropolitan Matsuzawa Hosp 2-1-1 Kamikitazawa Tokyo Japan 1560057
Citazione:
K. Tsuchiya et al., "Familial amyotrophic lateral sclerosis with onset in bulbar sign, benign clinical course, and Bunina bodies: a clinical, genetic, and pathological study of a Japanese family", ACT NEUROP, 100(6), 2000, pp. 603-607

Abstract

We report a Japanese family with autosomal dominant adult-onset amyotrophic lateral sclerosis (FALS) with onset in the bulbar musculature, clinicallybenign course, absence of the Cu/Zn superoxide dismutase-l (SOD I) gene mutation, and many Bunina bodies, in addition to involvement of the upper andlower motor neurons. The proband was a Japanese woman who was 66 years oldat the time of death. Family history disclosed five patients with FALS over three generations. She developed dysarthria at age 57, followed by dysphagia, muscle weakness of the upper extremities, and difficulty in respiration. She could walk without support until her death. The elder sister of the proband developed dysarthria at age 48 and died at age 58. A genetic study of the nephew of the proband showed the absence of a mutation in the SOD 1 gene. Neuropathological examination of the proband disclosed neuronal loss in the upper and lower motor neurons, and numerous Bunina bodies in the lower motor neurons without Lewy body-like inclusions or ubiquitin-immunoreactive neuronal inclusions. No degeneration of the Clarke's column, middle root zone of the posterior column, or posterior spinocerebellar tract was present. Review of the literature revealed that only patients with FALS with a long survival period of over 5 years had pathological findings consistent with FALS with posterior column involvement. This study contributes to the elucidation of the clinicopathological heterogeneity of FALS.

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Documento generato il 07/07/20 alle ore 15:37:25