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 ISI (38)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Neurology, Other  • Alert me on articles by topic

Ned Buttner, MD, PhD; Daniel Geschwind, MD, PhD; Joanna C. Jen, MD, PhD; Susan Perlman, MD; Stefan M. Pulst, MD; Robert W. Baloh, MD

Arch Neurol. 1998;55:1353-1357.

Objective  To quantify the oculomotor features of the common spinocerebellar ataxia (SCA) syndromes.

Setting  University ataxia clinic.

Patients  Twenty probands with documented SCA mutations.

Methods  Electro-oculographic recordings of saccadic, smooth pursuit, optokinetic, vestibular, and visual-vestibular eye movements.

Results  Distinct phenotype and genotype patterns were identified with modest overlap between patterns. Slowing of saccade peak velocities occurred only in SCA1 and SCA2, being present in 100% of patients with SCA2. Impaired vestibulo-ocular reflex gain occurred with SCA3 only. Patients with SCA6 had prominent deficits in smooth tracking but normal saccade velocities and vestibulo-ocular reflex gain.

Conclusions  The oculomotor findings are consistent with pure cerebellar involvement in SCA6, pontine involvement in SCA1 and SCA2, and vestibular nerve or nuclei involvement in SCA3. These phenotypes can be useful for clinical diagnosis and for investigating the mechanism of system specificity with the SCA syndromes.

From the Department of Neurology (Drs Buttner, Geschwind, Jen, Perlman, Pulst, and Baloh), Neurogenetics Program (Drs Geschwind, Jen, and Baloh), and Division of Head and Neck Surgery (Dr Baloh), UCLA School of Medicine, Los Angeles, Calif; and Department of Neurology, Cedars-Sinai Medical Center, Los Angeles (Dr Pulst).

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  

Impaired Eye Movements in Presymptomatic Spinocerebellar Ataxia Type 6
Christova et al.
Arch Neurol 2008;65:530-536.
ABSTRACT | FULL TEXT  

Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17)
Hubner et al.
Neurology 2007;69:1160-1168.
ABSTRACT | FULL TEXT  

Pontine and cerebellar atrophy correlate with clinical disability in SCA2
Ying et al.
Neurology 2006;66:424-426.
ABSTRACT | FULL TEXT  

Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene
Fahey et al.
J. Neurol. Neurosurg. Psychiatry 2005;76:1720-1722.
ABSTRACT | FULL TEXT  

Radiological characterization of spinocerebellar ataxia type 6
Butteriss et al.
Br. J. Radiol. 2005;78:694-696.
ABSTRACT | FULL TEXT  

Damage to the reticulotegmental nucleus of the pons in spinocerebellar ataxia type 1, 2, and 3
Rub et al.
Neurology 2004;63:1258-1263.
ABSTRACT | FULL TEXT  

Eye Movements of the Murine P/Q Calcium Channel Mutant Rocker, and the Impact of Aging
Stahl
J. Neurophysiol. 2004;91:2066-2078.
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  

Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign
Migliaccio et al.
Brain 2004;127:280-293.
ABSTRACT | FULL TEXT  

Vestibulo-ocular arreflexia in families with spinocerebellar ataxia type 3 (Machado-Joseph disease)
Gordon et al.
J. Neurol. Neurosurg. Psychiatry 2003;74:1403-1406.
ABSTRACT | FULL TEXT  

Otolith function in cerebellar ataxia due to mutations in the calcium channel gene CACNA1A
Wiest et al.
Brain 2001;124:2407-2416.
ABSTRACT | FULL TEXT  

Dissociation of smooth pursuit and vestibulo-ocular reflex cancellation in SCA-6
Takeichi et al.
Neurology 2000;54:860-866.
ABSTRACT | FULL TEXT