Neuropsychological Symptoms in Sporadic Creutzfeldt-Jakob Disease Patients in Germany

J Alzheimers Dis. 2017;59(1):329-337. doi: 10.3233/JAD-161129.


Background: The polymorphism at codon 129 of the prion protein gene (PRNP) and the PrPSc types 1 and 2 belong to a molecular classification of sporadic Creutzfeldt-Jakob disease (sCJD) that correlates well with the clinical and neuropathological phenotype of sCJD.

Objective: The aim of the study was to perform the first detailed evaluation of neuropsychological deficits in a large group of definite sCJD patients with known molecular subtype.

Methods: We analyzed neuropsychological symptoms in a cohort of 248 sCJD patients with known M129 V polymorphism of PRNP and prion protein type.

Results: Neuropsychological symptoms were very frequent in our patients (96%) and occurred as early as in the first third of the disease course. Besides amnesia and impaired attention (89% each), frontal lobe syndrome (75%), aphasia (63%), and apraxia (57%) were the most common neuropsychological deficits. There was no statistically significant difference with regard to frequency of neuropsychological symptoms between the subtypes. In MV2 and VV2 patients, the onset of neuropsychological symptoms was significantly later than in all other subtypes.

Conclusion: We provide the first detailed analysis of neuropsychological symptoms in a large group of sCJD patients with known M129 V genotype and prion protein type. We suggest that the rate of progression of neuropsychological symptoms is subtype-specific. These data may improve the diagnosis in atypical sCJD subtypes.

Keywords: M129V polymorphism; neuropsychological symptoms; neuropsychology; prion disease; sporadic CJD.

MeSH terms

  • 14-3-3 Proteins / cerebrospinal fluid
  • Adult
  • Aged
  • Aged, 80 and over
  • Aphasia / etiology
  • Apraxias / etiology
  • Attention Deficit Disorder with Hyperactivity / diagnosis
  • Attention Deficit Disorder with Hyperactivity / etiology*
  • Cognition Disorders / diagnosis
  • Cognition Disorders / diagnostic imaging
  • Cognition Disorders / etiology*
  • Cohort Studies
  • Creutzfeldt-Jakob Syndrome / complications*
  • Creutzfeldt-Jakob Syndrome / diagnostic imaging
  • Creutzfeldt-Jakob Syndrome / epidemiology
  • Creutzfeldt-Jakob Syndrome / genetics
  • Encephalopathy, Bovine Spongiform / complications*
  • Encephalopathy, Bovine Spongiform / diagnostic imaging
  • Encephalopathy, Bovine Spongiform / epidemiology
  • Encephalopathy, Bovine Spongiform / genetics
  • Female
  • Germany / epidemiology
  • Humans
  • Male
  • Middle Aged
  • Mood Disorders / etiology*
  • Mutation / genetics
  • Neuropsychological Tests
  • Prion Proteins / genetics
  • Psychomotor Disorders / etiology*
  • Young Adult
  • tau Proteins / cerebrospinal fluid


  • 14-3-3 Proteins
  • PRNP protein, human
  • Prion Proteins
  • tau Proteins

Supplementary concepts

  • Acquired CJD