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Titolo:
SLOW SACCADES AND OTHER EYE-MOVEMENT DISORDERS IN SPINOCEREBELLAR ATROPHY TYPE-1
Autore:
KLOSTERMANN W; ZUHLKE C; HEIDE W; KOMPF D; WESSEL K;
Indirizzi:
UNIV LUBECK,DEPT NEUROL,RATZEBURGER ALLE 160 D-23538 LUBECK GERMANY UNIV LUBECK,DEPT NEUROL D-23538 LUBECK GERMANY UNIV LUBECK,INST HUMAN GENET LUBECK GERMANY
Titolo Testata:
Journal of neurology
fascicolo: 2, volume: 244, anno: 1997,
pagine: 105 - 111
SICI:
0340-5354(1997)244:2<105:SSAOED>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
DOMINANT CEREBELLAR-ATAXIA; OLIVOPONTOCEREBELLAR ATROPHIES; GENETIC-ANALYSIS; CAG REPEAT; DEGENERATION; EXPANSION; FAMILIES; SCA1; LOCUS;
Keywords:
AUTOSOMAL-DOMINANT CEREBELLAR ATAXIA; SPINOCEREBELLAR ATROPHY TYPE 1; SLOW SACCADES; ELECTROOCULOGRAPHY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
28
Recensione:
Indirizzi per estratti:
Citazione:
W. Klostermann et al., "SLOW SACCADES AND OTHER EYE-MOVEMENT DISORDERS IN SPINOCEREBELLAR ATROPHY TYPE-1", Journal of neurology, 244(2), 1997, pp. 105-111

Abstract

In order to study the relation between genotype and phenotype, a detailed study of the course of oculomotor deficits was performed in threepatients with autosomal-dominant cerebellar ataxia, subtype spinocerebellar atrophy type 1 (SCA 1) using clinical testing and electrooculography. DNA analysis revealed a CAG repeat expansion of 65 in the SCA 1gene on chrome some 6p in all patients. A progressive disorder of thesaccadic system became obvious, leading to a marked slowing of saccadic eye movements and loss of pathological and physiological nystagmus. An upward gaze palsy developed early, followed by horizontal and downward gaze palsy at a later state of the disease. Smooth pursuit eye movements were disturbed to a lesser extent; the vestibulo-ocular reflexwas reduced. As an additional feature, severe loss of visual acuity developed due to progressive optic nerve atrophy. The oculomotor deficits can be explained by progressive damage to the brain stem rather than to the cerebellum. Each combination of oculomotor deficits with or without optic atrophy may occur irrespective of the gene locus of the disease, making a correlation between clinical signs and genetic findings difficult.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 08/07/20 alle ore 07:46:50