Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease

ObjectiveTo assess whether the involvement of the peripheral nervous system (PNS) belongs to the phenotypic spectrum of sporadic Creutzfeldt-Jakob disease (sCJD).MethodsWe examined medical records of 117 sCJDVV2 (ataxic type), 65 sCJDMV2K (kuru-plaque type) and 121 sCJDMM(V)1 (myoclonic type) subjec...

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Vydané v:	Journal of neurology, neurosurgery and psychiatry Ročník 90; číslo 4; s. 424 - 427
Hlavní autori:	Baiardi, Simone, Redaelli, Veronica, Ripellino, Paolo, Rossi, Marcello, Franceschini, Alessia, Moggio, Maurizio, Sola, Patrizia, Ladogana, Anna, Fociani, Paolo, Magherini, Anna, Capellari, Sabina, Giese, Armin, Caughey, Byron, Caroppo, Paola, Parchi, Piero
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	England BMJ Publishing Group Ltd 01.04.2019 BMJ Publishing Group LTD
Predmet:	amyloid Ataxia Biopsy Creutzfeldt-Jakob disease Creutzfeldt-Jakob Syndrome - complications Creutzfeldt-Jakob Syndrome - epidemiology Creutzfeldt-Jakob Syndrome - metabolism Creutzfeldt-Jakob Syndrome - physiopathology Dementia Demyelinating Diseases Electromyography Encephalopathy, Bovine Spongiform - complications Encephalopathy, Bovine Spongiform - epidemiology Encephalopathy, Bovine Spongiform - metabolism Encephalopathy, Bovine Spongiform - physiopathology Humans Myoclonus Nervous system Neurodegeneration neuropathy Patients Peripheral Nerves - pathology Peripheral Nerves - physiopathology Peripheral Nervous System Diseases - epidemiology Peripheral Nervous System Diseases - metabolism Peripheral Nervous System Diseases - pathology Peripheral Nervous System Diseases - physiopathology peripheral neuropathology Peripheral neuropathy prion Prion Proteins - metabolism Proteins rapidly progressive dementia Sciatic Nerve - pathology Sural Nerve - pathology rapidly progressive dementia neuropathy prion amyloid creutzfeldt-jakob disease peripheral neuropathology
ISSN:	0022-3050, 1468-330X, 1468-330X
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Shrnutí:	ObjectiveTo assess whether the involvement of the peripheral nervous system (PNS) belongs to the phenotypic spectrum of sporadic Creutzfeldt-Jakob disease (sCJD).MethodsWe 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.ResultsSeventy-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.ConclusionsPeripheral 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.
Bibliografia:	Short report ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23
ISSN:	0022-3050 1468-330X 1468-330X
DOI:	10.1136/jnnp-2018-319221