NR AVOH
AU Sanchez-Valle,R.; Santamaria,J.; Rey,M.J.; Rodriguez,A.; Graus,F.; Saiz,A.
TI [MM1 variant of sporadic Creutzfeldt-Jakob disease with long duration akinetic mutism state]
OT Enfermedad de Creutzfeldt-Jakob esporadica, variante MM1, asociada a mutismo acinetico de larga duracion
QU Neurologia 2006 Oct; 21(8): 444-6
PT case reports; english abstract; journal article
AB INTRODUCTION: 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. CLINICAL CASE: 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.
MH Akinetic Mutism/*etiology; Creutzfeldt-Jakob Syndrome/*complications/diagnosis/pathology; Fatal Outcome; Female; Humans; Middle Aged; Survival Rate
AD Unit de ECJ, Servei de Neurologia, Hospital Clinic, Institut d'Investgacio, Biomedica August Pi i Sunyer, Universitat de Barcelona.
SP spanisch
PO Spanien