Abstract
 Introduction
Creutzfeldt-Jakob disease (CJD) is a transmissible spongiform encephalopathy due to the accumulation of altered prion protein isoform (PrPsc) in the brain.
Creutzfeldt-Jakob disease: Ataxic presentation
 
  Keywords
 
 
  
   Ataxia
  
 
 
  
   Autopsy
  
 
 
  
   Molecular biology
  
 
 
  
   Creutzfeldt-Jakob disease
  
 
 
  
   Myoclonus
  
 
 
  
   Neuroimaging
  
 
Abstract
 Introduction
Creutzfeldt-Jakob disease (CJD) is a transmissible spongiform encephalopathy due to the accumulation of altered prion protein isoform (PrPsc) in the brain.
The typical clinical symptoms are <dis>rapidly progressive dementia</dis>, <dis>ataxia</dis>, myoclonus, electroencephalogram (EEG) alterations, with positive 14-3-3 protein in cerebrospinal fluid and changes in magnetic resonance imaging (MRI).
The definitive diagnosis is done anatomopathologically.
Case report
A 64 year old female patient who presented with <dis>rapid progressive ataxia</dis>, <dis>visual disturbances</dis>, <dis>dysarthria</dis>, dysdiadochokinesia, dysmetria and axial dystonia.
She also presented with <dis>apraxia</dis>, atrophy, myoclonus and seizures.
She died 4 months after onset, with <dis>severe motor deterioration</dis>, rigidity, flexed posture and <dis>low cognitive-behavioral impairment</dis>.
We did an anatomopathological study in addition to molecular biology.
Conclusions
We present a “defined” case study of ECJ with infrequent symptoms of <dis>ataxia</dis>, myoclonus, but <scp>with <neg>no</neg> <dis>cognitive deterioration</dis> for its genotype</scp> (M/V1).
Despite inconclusive 14-3-3 protein levels and atypical EEG, our diagnosis was mainly guided by the rapid onset of symptoms, in which high-field MRI (with the appropriate sequences) were key in showing typical images and in defining the diagnosis.
Abstract
 Introduction
Creutzfeldt-Jakob disease (CJD) is a transmissible spongiform encephalopathy due to the accumulation of altered prion protein isoform (PrPsc) in the brain.
The typical clinical symptoms are rapidly progressive dementia, ataxia, myoclonus, electroencephalogram (EEG) alterations, with positive 14-3-3 protein in cerebrospinal fluid and changes in magnetic resonance imaging (MRI).
The definitive diagnosis is done anatomopathologically.
Case report
A 64 year old female patient who presented with rapid progressive ataxia, visual disturbances, dysarthria, dysdiadochokinesia, dysmetria and axial dystonia.
She also presented with apraxia, atrophy, myoclonus and seizures.
She died 4 months after onset, with severe motor deterioration, rigidity, flexed posture and low cognitive-behavioral impairment.
We did an anatomopathological study in addition to molecular biology.
Conclusions
We present a “defined” case study of ECJ with infrequent symptoms of ataxia, myoclonus, but with no cognitive deterioration for its genotype (M/V1).
Despite inconclusive 14-3-3 protein levels and atypical EEG, our diagnosis was mainly guided by the rapid onset of symptoms, in which high-field MRI (with the appropriate sequences) were key in showing typical images and in defining the diagnosis.
Abstract
 Introduction
Creutzfeldt-Jakob disease (CJD) is a transmissible spongiform encephalopathy due to the accumulation of altered prion protein isoform (PrPsc) in the brain.