Creutzfeldt-Jakob disease

A very rare, progressive syndrome of motor, sensory, and mental disturbances, involving the cerebral cortex, basal ganglia and spinal cord. Presents with rapidly progressive dementia, stiffness and weakness of the limbs, convulsive seizures, and various pyramidal and extrapyramidal symptoms.

The clinical diagnosis is substantiated by a peculiar electroencephalogram and at autopsy by widespread degeneration and atrophy of the cerebral cortex, basal ganglia, and thalamus, with the presence of coarse and fine vacuoles in all cortical layers (status spongiosus).

The condition is usually fatal within a few months or years. Middle-aged and elderly persons are usually affected, onset between the ages of 30 and 60 years. Some writers consider this syndrome a variant of the Nevin and the Heidenhain syndrome.

The etiology is not quite certain. Autosomal dominant inheritance seems probable, but infection with a slow virus may play a role in the pathogenesis. It occurs in familial (frequently) and nonfamilial forms. A family in which members of three generations had been affected was described in 1950 by Jacob (no relation to Jakob)

Like bovine spongioform encephalitis, or mad cow disease, the causative agent is probably a prion, a neuronal cell surface sialoglycoprotein that is encoded by a gene on chromosome 20. For more on prion diseases, search the net for Daniel Carleton Gajdusek, winner of the Nobel prize for physiology or medicine in 1976, who found that eating the brain of the dead was the cause of Kuru disease in the Fore people on New Guinea. According to New Scientist, in Australia three women died from Creutzfeldt-Jakob disease in 1993 following treatment for infertility with a pituitary hormone taken from dead bodies.

Hans Gerhard Creutzfeldt, then working in Walther Spielmeyer’s (1879-1935) unit in Munich, in 1920 first described the disorder in a 23 year old woman whom he investigated, as «a peculiar nodule forming disease of the nervous system». He distinguished the condition from multiple sclerosis and termed it «pseudosclerosis».

A few months later, in 1921, Jakob published details of three more cases which he called «spastic pseudosclerosis» and the eponym Jakob-Creutzfeldt disease came into use. This term is still used in many major medical dictionaries. And it is the right one! The disease described by Creutzfeldt in 1920 in his patient Berta E. was not, according to present criteria, a case of „Transmissible Spongiform Encephalopathy“ (TSE), as reported by Friedrich Katscher 1998 in Nature.

Thus, the honour of having described the first cases of Transmissible Spongiform Encephalopathy in humans belong to Alfons Maria Jakob alone.

The term Creutzfeldt-Jakob disease (Creutzfeldt-Jakobsche Krankheit) was introduced by Walther Spielmeyer in 1922.

During the 1990s, with the attention on this disease caused by the panic over bovine spongioforme encephalitis, or mad cow disease, the media almost consequently referred to it as Creutzfeldt-Jakob disease.

See also:
Nevin-Jones syndrome, or presenile spongy encephalopathy, under Samuel Nevin, British neurologist, born 1905.
Heidenhain's syndrome, or cortical blindness-presenile dementia, under Adolf Heidenhain, German neurologist, born 1893.

• H. G. Creutzfeldt:
  Über eine eigenartige herdförmige Erkrankung des Zentralnervensystems. Vorläufige Mitteilung.
  Zeitschrift für die gesamte Neurologie und Psychiatrie, 1920, 57: 1-18. Über eine eigenartige herdformige Erkrankung des Zentralnervensystems.
  In: F. Nissl and A. Alzheimer (editors) Histologische und histopathologische Arbeiten über die Grosshirnrinde. Jena, Gustav Fischer, 1921; pages 1-48. Histologische Besonderheiten und funktionelle und pathologische Veränderungen der nervösen Zentralorgane.
  Handbuch der normalen und pathologischen Physiologie; volume 9. Berlin, 1929.
• A. Jakob:
  Über eigenartige Erkrankungen des Zentralnervensystems mit bemerkenswerten anatomischen Befunde (spastische Pseudosklerose-Encephalomyelopathie mit disseminierten Degenerationsherden). Vorläufige Mitteilung.
  Deutsche Zeitschrift für Nervenheilkunde, 1921, 70: 132-46. Über eigenartige Erkrankungen des Zentralnervensystems mit bemerkenswertem anatomischen Befunde (spastische Pseudosklerose-Encephalomyelopathie mit disseminierten Degenerationsherden).
  Zeitschrift für die gesamte Neurologie und Psychiatrie, 1921: 64, Originale: 147-228. Über eine der multiplen Sklerose klinisch nahestehende Erkrankung des Zentralnervensystems (spastische Pseudosklerose) mit bemerkenswerten anatomischem Befunde: Mitteilung eines vierten Falles.
  Medizinische Klinik, München, 1921, 17: 382386. Spastische Pseudosklerose. In Jakob, editor: Die extrapyramidalen Erkrankungen mit besonderer Berücksichtigung der patologischen Anatomie und Histologie und der Pathophysiologie der Bewegungsstörungen.
  Berlin, Julius Springer, 1923, pp. 215-245.
• W. Spielmeyer:
  Die histopathologische Forschung in der Psychiatrie.
  Klinische Wochenschrift, Berlin, 1922, 1: 1817-9.
• R. G. Will, W. B. Matthews:
  A retrospective study of Creutzfeldt-Jakob disease in England and Wales 1970-1979. I: Clinical features.
  Journal of Neurology, Neurosurgery and Psychiatry, London, 1984; 47: 134.
• F. Katscher:
  It's Jakob's disease, not Creutzfeldt's. Nature, London, 1998, 393: 11.