Oculomotor phenotypes in autosomal dominant ataxias.
OBJECTIVE
To quantify the oculomotor features of the common spinocerebellar ataxia (SCA) syndromes.


METHODS
University ataxia clinic.


METHODS
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 vestibuloocular 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.
Buttner
N
N
Department of Neurology, UCLA School of Medicine, Los Angeles, Calif, USA.
Geschwind
D
D
Jen
J C
JC
Perlman
S
S
Pulst
S M
SM
Baloh
R W
RW
D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004585:Electrooculography / Q000379:methods; D005403:Fixation, Ocular; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D010641:Phenotype; D012027:Reflex, Vestibulo-Ocular / Q000235:genetics; D012162:Retinal Degeneration / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D012438:Saccades / Q000235:genetics; D013132:Spinocerebellar Degenerations / Q000150:complications* / Q000235:genetics*