RT Journal Article
SR Electronic
T1 Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 424
OP 427
DO 10.1136/jnnp-2018-319221
VO 90
IS 4
A1 Simone Baiardi
A1 Veronica Redaelli
A1 Paolo Ripellino
A1 Marcello Rossi
A1 Alessia Franceschini
A1 Maurizio Moggio
A1 Patrizia Sola
A1 Anna Ladogana
A1 Paolo Fociani
A1 Anna Magherini
A1 Sabina Capellari
A1 Armin Giese
A1 Byron Caughey
A1 Paola Caroppo
A1 Piero Parchi
YR 2019
UL http://jnnp.bmj.com/content/90/4/424.abstract
AB Objective To assess whether the involvement of the peripheral nervous system (PNS) belongs to the phenotypic spectrum of sporadic Creutzfeldt-Jakob disease (sCJD).Methods We examined medical records of 117 sCJDVV2 (ataxic type), 65 sCJDMV2K (kuru-plaque type) and 121 sCJDMM(V)1 (myoclonic type) subjects for clinical symptoms, objective signs and neurophysiological data. We reviewed two diagnostic nerve biopsies and looked for abnormal prion protein (PrPSc) by western blotting and real-time quaking-induced conversion (RT-QuIC) in postmortem PNS samples from 14 subjects.Results Seventy-five (41.2%) VV2-MV2K patients, but only 11 (9.1%) MM(V)1, had symptoms or signs suggestive of PNS involvement occurring at onset in 18 cases (17 VV2-MV2K, 9.3%; and 1 MM(V)1, 0.8%) and isolated in 6. Nerve biopsy showed a mixed predominantly axonal and demyelinating neuropathy in two sCJDMV2K. Electromyography showed signs of neuropathy in half of the examined VV2-MV2K patients. Prion RT-QuIC was positive in all CJD PNS samples, whereas western blotting detected PrPSc in the sciatic nerve in one VV2 and one MV2K.Conclusions Peripheral neuropathy, likely related to PrPSc deposition, belongs to the phenotypic spectrum of sCJDMV2K and VV2 and may mark the clinical onset. The significantly lower prevalence of PNS involvement in typical sCJDMM(V)1 suggests that the PNS tropism of sCJD prions is strain dependent.