[MIM 600 072]

Extremely rare: incidence < 1/1.106.  Transmissible human spongiform encephalopathy due to autosomal dominant transmission of a mutation of the PRNP gene (20p13).

The clinical and neuropathological pictures are those of a genetic form of Creutzfeldt-Jacob disease. The disease begins with the association of refractory insomnia (with daytime dreams and hallucinations) and vegetative disorders (disappearance of circadian rhythms, sympathetic hyperactivity with high blood pressure and fever, sphincter disorders). The onset of motor difficulties (ataxia, tremor) and dementia is later. Myoclonus is rare. The average age of onset of the first symptoms varies between 18 and 60 years of age, the median age is 51 years. Death from lack of sleep occurs 6 to 32 months after diagnosis.

The sleep EEG shows a gradual disappearance of delta activity, sleep spindles, K complexes. There are abnormal phases of REM sleep.

Neuropathological: dominant involvement in the dorsomedial and anterior nuclei of the thalamus (neuronal loss, astrocytic gliosis). Spongiosis is discreet. There are no amyloid plaques.

Anesthetic implications: 

dysautonomic disorders, use single-use equipment for procedures involving the airway or the digestive tract.

References : 

Updated: February 2022