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Acta Neurologica Belgica
Published in: Acta Neurologica Belgica 4/2020

01-08-2020 | Creutzfeldt-Jakob Disease | Letter to the Editor

Heidenhain variant of Creutzefeldt–Jackob disease in a patient carrying the V210I mutation with asymmetric MRI abnormalities

Authors: G. Abbadessa, L. Lavorgna, G. Miele, M. Cirillo, S. Bonavita

Published in: Acta Neurologica Belgica | Issue 4/2020

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Excerpt

Prion diseases are degenerative disorders of the central nervous system (CNS) caused by transmissible particles that contain a pathogenic isoform of the prion protein, a normal constituent of cell membranes. The most common human prion disease is Creutzfeldt–Jakob disease (CJD). Most cases are sporadic (sCJD), 10–15% of cases are inherited (genetic CJD, gCJD), and a small number may be transmitted by medical procedures (iatrogenic CJD) or diet as in new variant CJD [1]. …
Literature
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Baiardi S, Capellari S, Ladogana A, Strumia S, Santangelo M, Pocchiari M, Parchi P (2016) Revisiting the Heidenhain variant of Creutzfeldt-Jakob disease: evidence for prion type variability influencing clinical course and laboratory findings. J Alzheimers Dis 50(2):465–476CrossRef
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Cooper SA, Murray KL, Heath CA, Will RG, Knight RS (2005) Isolated visual symptoms at onset in sporadic Creutzfeldt-Jakob disease: the clinical phenotype of the "Heidenhain variant". Br J Ophthalmol 89(10):1341–1342CrossRef
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Imbriani P, Imbriani P, Marfia GA, Marciani MG, Poleggi A, Pocchiari M, Puoti G, Caltagirone C, Pisani A (2016) Heidenhain variant in two patients with inherited V210I Creutzfeldt-Jakob disease. Int J Neurosci 126(4):381–383PubMed
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Amano Y, Kimura N, Hanaoka T, Aso Y, Hirano T, Murai H, Satoh K, Matsubara E (2015) Creutzfeldt-Jakob disease with a prion protein gene codon 180 mutation presenting asymmetric cortical high-intensity on magnetic resonance imaging. Prion 9:29–33CrossRef
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Gambetti P, Kong Q, Zou W, Parchi P, Chen SG (2003) Sporadic and familial CJD: classification and characterisation. Br Med Bull 66(1):213–239CrossRef
Metadata
Title
Heidenhain variant of Creutzefeldt–Jackob disease in a patient carrying the V210I mutation with asymmetric MRI abnormalities
Authors
G. Abbadessa
L. Lavorgna
G. Miele
M. Cirillo
S. Bonavita
Publication date
01-08-2020
Publisher
Springer International Publishing
Published in
Acta Neurologica Belgica / Issue 4/2020
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI
https://doi.org/10.1007/s13760-020-01381-8

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