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  • Title: Ataxia telangiectasia: a reappraisal of the ocular motor features and their value in the diagnosis of atypical cases.
    Author: Stell R, Bronstein AM, Plant GT, Harding AE.
    Journal: Mov Disord; 1989; 4(4):320-9. PubMed ID: 2811891.
    Abstract:
    The eye movements of four patients with ataxia telangiectasia (AT), three of whom had an unusual neurological presentation, were studied. All had striking abnormalities of saccadic generation with markedly hypometric saccades, increased saccadic latency, but normal saccadic velocity. Three patients used head thrusts to aid refixation. In addition, there was absence of smooth pursuit and optokinetic nystagmus, and hyperactive vestibular responses. Two of the four patients had, in addition, periodic alternating nystagmus. This combination of an ocular motor apraxia with superadded cerebellar ocular motor abnormalities, and possibly periodic alternating nystagmus, should strongly suggest the diagnosis of AT, even if the clinical syndrome is otherwise atypical.
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