Plaque-type dura mater graft-associated Creutzfeldt-Jakob disease: an autopsied case report

Clinicopathologically, dura mater graft-associated Creutzfeldt-Jakob disease (dCJD) presents as either a non-plaque or plaque type. Here, we report an autopsy case of plaque-type dCJD, supported by genetic and biochemical analyses. A 41-year-old man manifested right-hand paraesthesia. He had received a dural graft in the right parietal region following a traumatic acute subdural haematoma 27 years before symptom onset. The clinical course was slowly progressive. The patient became unable to walk independently 17 months after onset, showed cognitive decline at 22 months, and developed myoclonus and akinetic mutism at 24 months. Periodic sharp-wave complexes were never observed on electroencephalography throughout the disease course. He died 26 months after symptom onset. No mutations were identified in the prion protein (PrP) gene, and the codon 129 polymorphism was homozygous for methionine. Neuropathologically, mild to moderate spongiform changes with fine vacuoles, neuronal loss, and astrogliosis were observed in the brain and spinal cord. Degeneration was relatively severe in the limbic system, striatum, thalamus, and cerebellum, resembling the distribution pattern of VV2 sporadic CJD. Abnormal PrP deposition was broadly distributed consisting of synaptic, perineuronal, and plaque forms. In particular, intense PrP staining was observed throughout the spinal grey matter. Western blotting detected intermediate-type PrP in the brain and cervical cord, but not in systemic organs. Considering the clinical course and PrP staining in the spinal cord, PrP transmission is suggested to occur not directly from the transplanted dura mater to the central nervous system, but rather indirectly via a peripheral route.