[MM1 variant of sporadic Creutzfeldt-Jakob disease with long duration akinetic mutism state].
BACKGROUND
When patients present with a characteristic clinical picture of Creutzfeldt-Jakob disease (CJD) associated with positive 14-3-3 assay, periodic sharp wave complexes, high-signal of the striatum on magnetic resonance imaging, and homozygosis methionine (M) in codon 129, the median survival is 4 to 6 months.


METHODS
We report a 58-year-old woman with these typical features who survived 21 months, 19 of them in an akinetic mutism state. The autopsy confirmed the diagnosis of the most common CJD phenotype (MM1), usually associated with a shorter survival, and demyleinitation of the white matter (panencephalopathic form).


CONCLUSIONS
The MM1 variant of CJD, with a rapidly progressive course leading into an akinetic mutism shortly after disease onset can be followed by a long akinetic mutism state. This profile is suggestive of panencephalopathic form and should be taken into account when counselling about survival.
Sanchez-Valle
R
R
Unit de ECJ, Servei de Neurología, Hospital Clínic, Institut d'Investgació, Biomedica August Pi i Sunyer, Universitat de Barcelona.
Santamaria
J
J
Rey
M J
MJ
Rodriguez
A
A
Graus
F
F
Saiz
A
A
D000405:Akinetic Mutism / Q000209:etiology*; D007562:Creutzfeldt-Jakob Syndrome / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008875:Middle Aged; D015996:Survival Rate