Walsh & Hoyt: Familial Creutzfeldt-Jakob Disease

The clinical features of familial CJD (fCJD) are indistinguishable from those of sCJD, including the visual manifestations. Homonymous visual field defects occur in some patients with fCJD, as does cerebral blindness. Nicholl et al. described a family with a 144base pair insertion (6octapeptide repeat) in whom the initial presentation of CJD was visual disturbance and unsteadiness. The propositus of the family was only able to recognize light and dark at the time of his admission 2 months after symptoms began; cognitive decline and myoclonic jerks followed shortly thereafter. An EEG revealed typical synchronous triphasic discharges, and death occurred 1 month after admission. Bertoni et al. described supranuclear paralysis of vertical gaze in several patients with familial CJD who had a mutation at codon 200. Among the patients described by Collinge et al., one patient was said to have had ""pale optic discs"" and perhaps a right homonymous hemianopia. Another patient had ""twitching of the eyelids,"" whereas a third patient had ""blepharoclonus."" A fourth patient was unable to complete tasks, particularly those requiring ""visuospatial skills."" Although these investigators did not describe any specific disorders of eye movement in any of the affected family members, a variety of disturbances of fixation, pursuit, and saccades were likely present in most of them as well as in the affected patients reported by Capellari and by Poulter et al.