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Titolo:
Familial amyotrophic lateral sclerosis with posterior column degeneration and basophilic inclusion bodies: a clinical, genetic and pathological study
Autore:
Tsuchiya, K; Matsunaga, T; Aoki, M; Haga, C; Ooe, K; Abe, K; Ikeda, K; Nakano, I;
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 Asahi Gen Hosp, Dept Neurol, Chiba, Japan Asahi Gen Hosp Chiba JapanAsahi Gen Hosp, Dept Neurol, Chiba, Japan Tohoku Univ, Sch Med, Dept Neurol, Sendai, Miyagi 980, Japan Tohoku Univ Sendai Miyagi Japan 980 ept Neurol, Sendai, Miyagi 980, Japan Asahi Gen Hosp, Dept Pathol, Chiba, Japan Asahi Gen Hosp Chiba JapanAsahi Gen Hosp, Dept Pathol, Chiba, Japan Okayama Univ, Sch Med, Dept Neurol, Okayama, Japan Okayama Univ Okayama Japan a Univ, Sch Med, Dept Neurol, Okayama, Japan Jichi Med Sch, Dept Neurol, Minami Kawachi, Tochigi, Japan Jichi Med Sch Minami Kawachi Tochigi Japan inami Kawachi, Tochigi, Japan
Titolo Testata:
CLINICAL NEUROPATHOLOGY
fascicolo: 2, volume: 20, anno: 2001,
pagine: 53 - 59
SICI:
0722-5091(200103/04)20:2<53:FALSWP>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
CU/ZN SUPEROXIDE-DISMUTASE; MULTISYSTEM DEGENERATION; CYTOPLASMIC INCLUSIONS; HYALINE INCLUSIONS; POINT MUTATION; DISEASE; ABNORMALITIES; INVOLVEMENT; FEATURES; ONSET;
Keywords:
basophilic inclusion body; Cu/Zn superoxide dismutase; familial amyotrophic lateral sclerosis; neuropathology;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
26
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 posterior column degeneration and basophilic inclusion bodies: a clinical, genetic and pathological study", CLIN NEUR, 20(2), 2001, pp. 53-59

Abstract

We report an autopsy case of familial amyotrophic lateral sclerosis (FALS). The patient was a Japanese woman with hereditary burden. Family history revealed 12 patients with FALS over four generations. She developed muscle weakness of the proximal part of the upper extremities at age 42, followed by dysarthria, dysphagia, muscle weakness and atrophy in the lower extremities, spasticity, hyperreflexia and Babinski's sign. At age 44, she needed ventilatory support. At age 45, she died of bronchopneumonia. The total duration of the disease was three years and one month. Genetic study showed the absence of a mutation in the Cu/Zn superoxide dismutase-l gene. Neuropathological examination revealed not only neuronal loss in the upper and lower motor neuron and Clarke's column, but also degeneration of the pyramidal tracts, middle root zone of the posterior column and posterior spinocerebellartract. Bunina bodies and Lewy body-like inclusion bodies were absent. A few basophilic inclusion bodies were present in the neurons of the brain stemand anterior horn of the lumbar cord. Based on these clinical. genetic andpathological findings with a review of the literature, we concluded that our case was the first reported case of FALS with posterior column involvement and basophilic inclusion bodies.

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Documento generato il 30/03/20 alle ore 19:52:55