Article Text

PDF
Familial Creutzfeldt–Jakob disease with E200K mutation presenting with neurosensorial hypoacusis
  1. R Reñé1,
  2. J Campdelacreu1,
  3. I Ferrer2,
  4. A Escrig3,
  5. M Povedano3,
  6. J Gascón-Bayarri3,
  7. E Moral3
  1. 1Unitat de Diagnòstic i Tractament de les Demències, Neurology Service, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Spain
  2. 2Institute of Neuropathology, Servei Anatomia Patològica, IDIBELL-Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Spain
  3. 3Unitat de Diagnòstic i Tractament de les Demències, Neurology Service, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Spain
  1. Correspondence to:
 R Reñé
 Unitat de Diagnòstic i Tractament de les Demències, Neurology Service, Hospital Universitari de Bellvitge, Feixa Llarga s/n, 08907 L’Hospitalet de Llobregat, Spain;ramonrenye{at}hotmail.com

Statistics from Altmetric.com

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 …

View Full Text

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.