ABSTRACT
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 M129âV 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 M129âV 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.
Subject(s)
Attention Deficit Disorder with Hyperactivity/etiology , Cognition Disorders/etiology , Creutzfeldt-Jakob Syndrome/complications , Encephalopathy, Bovine Spongiform/complications , Mood Disorders/etiology , Psychomotor Disorders/etiology , 14-3-3 Proteins/cerebrospinal fluid , Adult , Aged , Aged, 80 and over , Aphasia/etiology , Apraxias/etiology , Attention Deficit Disorder with Hyperactivity/diagnosis , Cognition Disorders/diagnosis , Cognition Disorders/diagnostic imaging , Cohort Studies , Creutzfeldt-Jakob Syndrome/diagnostic imaging , Creutzfeldt-Jakob Syndrome/epidemiology , Creutzfeldt-Jakob Syndrome/genetics , Encephalopathy, Bovine Spongiform/diagnostic imaging , Encephalopathy, Bovine Spongiform/epidemiology , Encephalopathy, Bovine Spongiform/genetics , Female , Germany/epidemiology , Humans , Male , Middle Aged , Mutation/genetics , Neuropsychological Tests , Prion Proteins/genetics , Young Adult , tau Proteins/cerebrospinal fluidABSTRACT
BACKGROUND: Psychiatric symptoms in sporadic Creutzfeldt-Jakob disease (sCJD) are still not sufficiently evaluated. AIM: To describe psychiatric symptoms in sCJD with respect to molecular subtype. METHOD: Patients in this retrospective study were classified according to established diagnostic criteria. 248 sCJD patients with known molecular subtype were recruited from January 1993 to December 2004 and investigated. Psychiatric symptoms were defined according to Möller and colleagues and the AMDP system (Study Group for Methods and Documentation in Psychiatry) and were collected by direct examination by study physicians or extracted from medical documentation. Our data were compared with published data on variant CJD (vCJD). RESULTS: Psychiatric symptoms were common in sCJD patients (90%) and mostly found already at the disease onset (agitation in 64% of the patients, hallucinations in 45%, anxiety in 50%, depression in 37%). All psychiatric symptoms but illusions were found early in the disease course. Psychiatric symptoms in sCJD were less frequent than in vCJD. CONCLUSIONS: We provide the first detailed analysis of psychiatric symptoms in a large group of patients with sCJD with respect to differences concerning frequency and time point of occurrence of psychiatric symptoms between molecular subtypes. These data suggest that psychiatric symptoms occurring early in the disease course are common not only in vCJD but also in other CJD types.
