Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease

S. Baiardi, V. Redaelli, P. Ripellino, M. Rossi, A. Franceschini, M. Moggio, P. Sola, A. Ladogana, P. Fociani, A. Magherini, S. Capellari, A. Giese, B. Caughey, P. Caroppo, P. Parchi

Research output: Contribution to journalArticle

Abstract

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.
Original languageEnglish
JournalJournal of Neurology, Neurosurgery and Psychiatry
DOIs
Publication statusPublished - 2018

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Prions
Peripheral Nervous System
Peripheral Nervous System Diseases
Signs and Symptoms
Kuru
Western Blotting
Biopsy
Tropism
Electromyography
Sciatic Nerve
Medical Records
Sporadic Creutzfeldt-Jakob Disease

Keywords

  • amyloid
  • Creutzfeldt Jacob disease
  • NEUROPATHY
  • prion

Cite this

Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease. / Baiardi, S.; Redaelli, V.; Ripellino, P.; Rossi, M.; Franceschini, A.; Moggio, M.; Sola, P.; Ladogana, A.; Fociani, P.; Magherini, A.; Capellari, S.; Giese, A.; Caughey, B.; Caroppo, P.; Parchi, P.

In: Journal of Neurology, Neurosurgery and Psychiatry, 2018.

Research output: Contribution to journalArticle

Baiardi, S. ; Redaelli, V. ; Ripellino, P. ; Rossi, M. ; Franceschini, A. ; Moggio, M. ; Sola, P. ; Ladogana, A. ; Fociani, P. ; Magherini, A. ; Capellari, S. ; Giese, A. ; Caughey, B. ; Caroppo, P. ; Parchi, P. / Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease. In: Journal of Neurology, Neurosurgery and Psychiatry. 2018.
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title = "Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease",
abstract = "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.",
keywords = "amyloid, Creutzfeldt Jacob disease, NEUROPATHY, prion",
author = "S. Baiardi and V. Redaelli and P. Ripellino and M. Rossi and A. Franceschini and M. Moggio and P. Sola and A. Ladogana and P. Fociani and A. Magherini and S. Capellari and A. Giese and B. Caughey and P. Caroppo and P. Parchi",
note = "Ricercatori distaccati presso IRCCS a seguito Convenzione esclusiva con Universit{\`a} di Bologna (Capellari Sabina, Parchi Piero)",
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language = "English",
journal = "Journal of Neurology, Neurosurgery and Psychiatry",
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TY - JOUR

T1 - Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease

AU - Baiardi, S.

AU - Redaelli, V.

AU - Ripellino, P.

AU - Rossi, M.

AU - Franceschini, A.

AU - Moggio, M.

AU - Sola, P.

AU - Ladogana, A.

AU - Fociani, P.

AU - Magherini, A.

AU - Capellari, S.

AU - Giese, A.

AU - Caughey, B.

AU - Caroppo, P.

AU - Parchi, P.

N1 - Ricercatori distaccati presso IRCCS a seguito Convenzione esclusiva con Università di Bologna (Capellari Sabina, Parchi Piero)

PY - 2018

Y1 - 2018

N2 - 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.

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.

KW - amyloid

KW - Creutzfeldt Jacob disease

KW - NEUROPATHY

KW - prion

U2 - 10.1136/jnnp-2018-319221

DO - 10.1136/jnnp-2018-319221

M3 - Article

JO - Journal of Neurology, Neurosurgery and Psychiatry

JF - Journal of Neurology, Neurosurgery and Psychiatry

SN - 0022-3050

ER -