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Titolo:
A CLINICAL, GENETIC, NEUROPATHOLOGICAL STUDY IN A JAPANESE FAMILY WITH SCA-6 AND A REVIEW OF JAPANESE AUTOPSY CASES OF AUTOSOMAL-DOMINANT CORTICAL CEREBELLAR ATROPHY
Autore:
TSUCHIYA K; ISHIKAWA K; WATABIKI S; TONE O; TAKI K; HAGA C; TAKASHIMA M; ITO U; OKEDA R; MIZUSAWA H; IKEDA K;
Indirizzi:
TOKYO METROPOLITAN MATSUZAWA HOSP,DEPT LAB MED & PATHOL,SETAGAYA KU,2-1-1 KAMIKITA ZAWA TOKYO 1560057 JAPAN PSYCHIAT RES INST TOKYO,DEPT NEUROPATHOL TOKYO 156 JAPAN MUSASHINO RED CROSS HOSP,DEPT NEUROL TOKYO JAPAN TOKYO MED & DENT UNIV,DEPT NEUROL TOKYO 113 JAPAN MUSASHINO RED CROSS HOSP,DEPT NEUROSURG TOKYO JAPAN MUSASHINO RED CROSS HOSP,DEPT PATHOL TOKYO JAPAN TOKYO MED & DENT UNIV,MED RES INST,DEPT NEUROPATHOL TOKYO JAPAN
Titolo Testata:
Journal of the neurological sciences
fascicolo: 1, volume: 160, anno: 1998,
pagine: 54 - 59
SICI:
0022-510X(1998)160:1<54:ACGNSI>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
MACHADO-JOSEPH-DISEASE; SPINOCEREBELLAR ATAXIA; OLIVOPONTOCEREBELLAR ATROPHY; DEGENERATION; EXPANSIONS;
Keywords:
AUTOSOMAL DOMINANT CORTICAL CEREBELLAR ATROPHY; NEUROPATHOLOGY; GENETICS; SCA 6;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
22
Recensione:
Indirizzi per estratti:
Citazione:
K. Tsuchiya et al., "A CLINICAL, GENETIC, NEUROPATHOLOGICAL STUDY IN A JAPANESE FAMILY WITH SCA-6 AND A REVIEW OF JAPANESE AUTOPSY CASES OF AUTOSOMAL-DOMINANT CORTICAL CEREBELLAR ATROPHY", Journal of the neurological sciences, 160(1), 1998, pp. 54-59

Abstract

This report concerns a Japanese family with genetically confirmed SCA6, including an autopsy case, and a review of Japanese autopsy cases of autosomal dominant cortical cerebellar atrophy (ADCGA). The proband(Case 1) was a Japanese woman. She developed gait disturbance at age 62. The father and younger sister (Case 2) had the same disorder. She died at age 67 due to subarachnoid hemorrhage. Neuropathological examination revealed severe loss of Purkinje cells in the cerebellum, prominently in the dorsal vermis, and absence of neuronal loss in the inferior olives. Molecular genetic study showed the GAG-repeat expansion ofSGA 6 gene. The younger sister (Case 2) developed gait disturbance atage 62. Neurological examination at age 66 revealed cerebellar signs without sensory disturbance. Neuroimaging at this dme showed cerebellar atrophy, prominently in the vermis. She died of multiple myeloma at age 66. A neuropathological review of Japanese autopsy cases of ADCCA showed that there are two patterns in the distribution of cerebellar cortical lesions of Japanese patients with ADCCA. The distribution of cerebellar cortical lesions in genetically confirmed Japanese patients with SCA 6 is more prominent in the vermis than in the hemisphere. (C)1998 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 14/07/20 alle ore 10:03:59