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Titolo:
DOMINANTLY INHERITED EARLY-ONSET NONPROGRESSIVE CEREBELLAR-ATAXIA SYNDROME
Autore:
IMAMURA S; TACHI N; OYA K;
Indirizzi:
SAPPORO MUNICIPAL DEV MED & HABILITAT CTR,DEPT PEDIAT,W 26 CHOME,N 7 JO,CHUOU KU SAPPORO 060 JAPAN SAPPORO MED UNIV,SCH MED,DEPT PEDIAT SAPPORO JAPAN
Titolo Testata:
Brain & development
fascicolo: 5, volume: 15, anno: 1993,
pagine: 372 - 376
SICI:
0387-7604(1993)15:5<372:DIENCS>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
RETAINED TENDON REFLEXES; VERMIS; ATROPHY;
Keywords:
EARLY-ONSET CEREBELLAR ATAXIA; ATAXIC CEREBRAL PALSY; HEREDITARY ATAXIA; NONPROGRESSIVE ATAXIA; NEUROIMAGING OF ATAXIA;
Tipo documento:
Note
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
9
Recensione:
Indirizzi per estratti:
Citazione:
S. Imamura et al., "DOMINANTLY INHERITED EARLY-ONSET NONPROGRESSIVE CEREBELLAR-ATAXIA SYNDROME", Brain & development, 15(5), 1993, pp. 372-376

Abstract

A mother and daughter with suspected dominantly inherited, early-onset, non-progressive cerebellar ataxia syndrome have been reported. A review of the literature and the clinical features of the present cases revealed the nosologic features of this rare disorder, possibly dominant inheritance, floppiness and delayed milestones preceding early-onset mild cerebellar ataxia, non-progressive clinical course, retained oreven brisk tendon reflexes without pyramidal tract involvement, normal or slightly delayed intelligence, and occasional nystagmus. Neuroimaging reveals selective involvement of the cerebellum, which is prominent in the vermis and the anterior part of the hemispheres.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 12:29:19