This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (20)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Neurology  • Ataxia  • Ophthalmology  • Ophthalmological Disorders, Other  • Alert me on articles by topic  Social Bookmarking   What's this?

Karl Wessel, MD; Carsten Moschner, MD; Klaus-Peter Wandinger, MD; Deflef Kömpf, MD; Wolfgang Heide, MD

Arch Neurol. 1998;55:949-956.

Background  Oculomotor abnormalities have been reported in patients with degenerative ataxic disorders.

Objective  To assess the diagnostic sensitivity and specificity of oculomotor deficits in patients with Friedreich ataxia (FA), cerebellar atrophy (CA), and olivopontocerebellar atrophy (OPCA).

Setting  Neurology clinic at a university hospital in Lübeck, Germany.

Patients  Seven patients with FA, 9 with CA, and 10 with OPCA were studied. These patients were selected from an ongoing follow-up study.

Main Outcome Measures  Eye movements were recorded by electro-oculography; an extensive battery of quantitative tests was used.

Results  A proven CAG repeat expansion on chromosome 6 or 14 was significantly associated with reduced saccadic eye velocity and vertical gaze palsy (P<.001, Mann-Whitney U test). All 6 patients with OPCA and slow saccades had an autosomal-dominant inheritance; 4 of them were proved to have spinocerebellar atrophy type 1. In 9 of these patients (4 with FA, 1 with CA, and 4 with OPCA), the genetic defect could not be identified. Saccadic dysmetria, impairment of smooth pursuit and optokinetic nystagmus, deficient suppression of the vestibulo-ocular reflex by either visual or otolith input, and pathological nystagmus were attributed to degenerative lesions in different parts of the cerebellum. However, these symptoms failed to clearly distinguish between the different groups of patients, whereas decreased vestibulo-ocular reflex gain, slow saccades, and vertical gaze palsy pointed to an extracerebellar manifestation of the degenerative disease, occurring only in patients with OPCA and FA.

Conclusions  In this prospective study, oculomotor disturbances were mainly related to cerebellar dysfunction. Only a few of them were caused by extracerebellar manifestations of the disease, such as slowing of saccades, which was characteristic for patients with OPCA of autosomal-dominant inheritance.

From the Department of Neurology, Medical University, Lübeck, Germany. Dr Wessel is now with the Department of Neurology, Clinic of Braunschweig, Braunschweig, Germany.

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Oculomotor abnormalities in myoclonic tremor: a comparison with spinocerebellar ataxia type 6
Bour et al.
Brain 2008;131:2295-2303.
ABSTRACT | FULL TEXT  

Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia
Fahey et al.
Brain 2008;131:1035-1045.
ABSTRACT | FULL TEXT  

Saccade dysfunction associated with chronic petrol sniffing and lead encephalopathy
Cairney et al.
J. Neurol. Neurosurg. Psychiatry 2004;75:472-476.
ABSTRACT | FULL TEXT  

Eye movement abnormalities in essential tremor may indicate cerebellar dysfunction
Helmchen et al.
Brain 2003;126:1319-1332.
ABSTRACT | FULL TEXT  

Impaired Vertical Phoria Adaptation in Patients with Cerebellar Dysfunction
Kono et al.
IOVS 2002;43:673-678.
ABSTRACT | FULL TEXT