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J Neurol Neurosurg Psychiatry. 2019 Apr;90(4):424-427. doi: 10.1136/jnnp-2018-319221. Epub 2018 Oct 24.

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

Author information

1
Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
2
Neurology and Neuropathology Unit, IRCCS, Foundation, Neurological Institute Carlo Besta of Milan, Milano, Italy.
3
Department of Neurology, Neurocenter of Southern Switzerland, Lugano, Switzerland.
4
IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
5
Neuromuscular and Rare Disease Unit, Department of Neuroscience, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
6
Department of Biomedical, Metabolic and Neurosciences, University of Modena and Reggio Emilia, Modena, Italy.
7
Department of Neurosciences, Istituto Superiore di Sanità, Rome, Italy.
8
Department of Pathology, Luigi Sacco University Hospital, Milan, Italy.
9
Neurology Unit, Carlo Poma Hospital, Mantova, Italy.
10
Institut für Neuropathologie und Prion Forschung, Ludwig-Maximilians-Universität München, Munich, Germany.
11
LPVD, Rocky Mountain Laboratories, NIAID, NIH, Hamilton, Montana, USA.
12
IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy piero.parchi@unibo.it.
13
Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Università di Bologna, Bologna, Italy.

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-jakob disease; neuropathy; peripheral neuropathology; prion; rapidly progressive dementia

PMID:
30355606
DOI:
10.1136/jnnp-2018-319221
[Indexed for MEDLINE]

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