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Creutzfeldt–Jakob disease (CJD) is characterised by rapidly progressive dementia, myoclonus, ataxia, visual disturbances and motor dysfunction. Neuropathological examination shows diffuse spongiosis, neuronal loss, gliosis and a variable degree of amyloid plaque deposition composed of protease-resistant prionic protein (PrPRES) in several locations, including the brain stem. The most frequent clinical presentations are dementia, ataxia or visual symptoms. Most of the cases are sporadic. Only 10–15% are familial, and the most frequent point mutation is E200K. The course of disease, investigation results and neuropathology are similar to those of the sporadic form of CJD. The typical clinical presentation of E200K is a rapidly progressive dementia with myoclonus and pyramidal, cerebellar or extrapyramidal signs.1 We report a familial case with an unusual onset, with deafness and polyneuropathy.
A 53-year-old man presented with subacute progressive bilateral hypoacusis, with tinnitus in the left ear. He was a frequent diver and the symptoms were attributed to barotrauma. During the following months, his hypoacusis worsened and he progressively developed bilateral stocking-type paresthaesia and gait instability. On examination, he was alert and cooperative, although communication was mildly affected because of the hypoacusis. He showed emotional lability; his speech was slow but fluent, and he was partially disoriented in time. Extrinsic ocular motility, cranial nerves and muscular strength were normal. Lower …