Origins of the Creutzfeldt and Jakob Concept

Abstract

A review of the publications of Hans Creutzfeldt and Alfons Jakob pertaining to the concept which bears their name (CJD) reveals that they described a neuropathological syndrome and were opposed to its classification as a neurological disease. The evidence on which Creutzfeldt and Jakob based their view is reevaluated, and studies by other workers are cited in which a range of environmental and genetic factors generated the CJ syndrome, challenging the proposition that CJD is a disease with a single cause.

Alfons Maria Jakob (1884–1931), Neuropathologist par Excellence

“…The text that follows gives an overview of what Jakob and additionally Creutzfeldt really described, compared to our current knowledge on spongiform encephalopathies. In-depth accounts have been given by Duckett and Stern [10], Poser and Bruyn [11], and Wolf and Foley [12]. …”

“…Creutzfeldt published a sequel paper on the case [20]. Both articles were entitled ‘On a particular focal illness of the central nervous system’, conveying the possibility of having identified a new entity of unknown etiology [10]. …”

“…Erythema multiforme bullosum, appearing as herpetiform small vesicles, made its appearance in the vicinity of the third ramus of the left trigeminal nerve. Stupor deepened, swallowing became impaired, and death ensued in status epilepticus [9, 10]. Two of the patient’s five siblings had mental deficits and her mother had died of an unknown cause at the age of 56.…”

“…The CJD concept is closer to a neuropathological syndrome rather than a single etiologic-nosological entity [10, 14]. Some 84 forms, ‘types’ or variants of CJD have been recorded on the basis of clinical and neuropathological criteria [15].…”

On the ‘classification’ of neurodegenerative disorders: discrete entities, overlap or continuum?

“…The traditional method of classifying neurodegenerative diseases is based on the original clinicopathological concept, viz., a disease entity is a specific combination of clinical features and a distinctive neuropathology [40,45,59]. It was this principle, originally applied to small numbers of cases, that resulted in the first descriptions of Alzheimer's disease (AD) [1,60], Pick's disease (PiD) [116], dementia with Lewy bodies (DLB) [45,87], Creutzfeldt-Jakob disease (CJD) [32,75], and progressive supranuclear palsy (PSP) [128].…”