Cases reported "Tauopathies"

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1/2. Influence of target size on vertical gaze palsy in a pathologically proven case of progressive supranuclear palsy.

    We document a new oculomotor phenomenon in a patient with pathologically proven progressive supranuclear gaze palsy (PSP), namely that vertical gaze excursion improves with larger pursuit targets. We used computerised video-oculography during vertical smooth pursuit eye movements (SPEM) of circular targets of diameter 0.16 degrees and 16 degrees, sinusoidally oscillating at 0.08 Hz (peak-to-peak amplitude 49 degrees). Increasing target size improved vertical gaze excursion from 10 degrees to 25 degrees. There was no concomitant increase in slow phase eye velocity. The findings could be explained by a potentiation of the position control mechanism of pursuit by target size due to increased activation of brainstem pursuit-optokinetic pathways and to higher order attentional mechanisms. This observation may be useful in the clinical assessment of PSP patients with severe neck rigidity in whom the doll's head-eye manoeuvre cannot be performed by comparing the degree of vertical gaze palsy during smooth pursuit testing between at least two differently sized targets and observing whether there is a larger excursion in response to a large target such as a newspaper.
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2/2. Young onset limb spasticity with PSP-like brain and spinal cord NFT-tau pathology.

    A 30-year-old white man presented with a sporadic form of gradually progressive spastic gait and, later, supranuclear vertical and horizontal gaze palsy, mild cognitive impairment, loss of postural reflexes, and falls. dna analysis revealed H1/H1 haplotype without tau gene (exons 9 to 13) mutation. Eight years later, postmortem revealed a tauopathy similar to progressive supranuclear palsy. Unusual aspects were early age at onset, neurofibrillary tangle, and tau involvement of the cord.
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keywords = vertical
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