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L. Gradstein, A. Danek, J. Grafman, E.J. FitzGibbon; Eye Movements in Chorea-Acanthocytosis . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1934.
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Purpose: To describe the eye movement abnormalities in patients with chorea-acanthocytosis (ChAc), an autosomal recessive neurodegenerative disorder (OMIM 200150), with central and peripheral nervous system involvement and aberrant erythrocyte morphology (acanthocytosis). Mutations in the chorein gene (CHAC, chromosome 9) are responsible for ChAc. In contrast to Huntington's disease (for which ChAc cases have been mistaken in the past), ocular involvement in ChAc has not been systematically studied yet. Methods: Three patients (26 year old male, 30 year old female, 44 year old male) with ChAc participated in the study. Patients had an extensive clinical and laboratory work-up, as well as neuroimaging, to confirm the diagnosis and to exclude McLeod syndrome, which presents with similar clinical manifestations. A neuro-ophthalmological examination and eye movement recording using magnetic search coil technique were performed to assess fixation characteristics, horizontal and vertical saccadic main sequence, pursuit and antisaccades. Results: Patients had dystonia, hyperkinetic movements or parkinsonism, dysarthria, dysphagia, seizures, cognitive and behavioral abnormalities, hyporeflexia and myopathy. Laboratory studies revealed acanthocytosis and muscle CK elevation, and excluded McLeod syndrome. MRI showed degeneration of the basal ganglia with pronounced caudate atrophy typical for ChAc. In two patients, heterozygous CHAC mutations have been confirmed (1208delAGAC and 7867C->T; 6419C->G and 9190delG). All patients had more than 30 square-wave jerks per minute and fractionated horizontal and vertical saccades. A decrease of saccadic peak-velocity with an increase of saccadic duration was more pronounced for vertical saccades. Pursuit testing done in two patients showed low gain. Antisaccade testing done in one patient was abnormal. Conclusions: Our findings may suggest brainstem involvement as an additional site of neurodegeneration outside the basal ganglia in ChAc. Patients with this progressive, currently incurable disease have pronounced ocular motor abnormalities. Eye movement recordings could assist in monitoring of disease progression and possible treatment evaluation.
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