[MIM 137 440]

Extremely rare: 1 to 10 people per year out of a hundred million. Spongiform encephalopathy. Autosomal dominant transmission of a mutation or nucleotide insertions on the PRNP gene (20p13) coding for the prion protein (PrP) with, at neuropathological examination, multicentric amyloid plates composed of truncated prion protein. 

Different forms have been distinguished::

-        ataxic form: mutations in the P102L codon (Europe, Japan) 

-        form dominated by dementia and mutations in codons 198 (Indiana), 217 or A117V

-        form with late dementia and spastic paraparesis: mutation in the P105L codon.

-        form close to Alzheimer's disease: mutation Y145X.

This pathology is often associated with amyloid angiopathy of the cerebral vessels. Usual onset around 50 years of age (but varies from 19 to 90 years of age), with a maximum survival of 5 years after diagnosis.

Other mutations of the same gene lead to Creutzfeld-Jakob disease [MIM 123 400] and fatal familial insomnia [MIM 600 072].

Treatment: symptomatic and supportive. Experimental treatment with the monoclonal antibody PRN100.

Anesthetic implications:

depending on the type of clinical presentation: dysphagia, ataxia, dementia, spastic paraparesis. Risk of aspiration. Preferably use single-use equipment for procedures in the aero-digestive tract.

References :

-        Lowe PR, Engelhardt T.
Prion-related diseases and anesthesia.
Anaesthesia 2001;56:485–502 15.

-        Nakamura M, Ogata M, Matsuo Y, Sata T.
Anesthetic management of a patient with Gerstmann-Sträussler-Scheinker syndrome (mutation of prion protein).
Anesth Analg 2006; 102:1285–6

Updated: February 2022