A novel prion protein variant in a patient with semantic dementia.
作者信息
Kenny Joanna, Woollacott Ione, Koriath Carolin, Hosszu Laszlo, Adamson Gary, Rudge Peter, Rossor Martin N, Collinge John, Rohrer Jonathan D, Mead Simon
机构信息
MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.
NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.
出版信息
J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):890-892. doi: 10.1136/jnnp-2017-315577. Epub 2017 Jun 1.
Abstract
摘要
相似文献
1
A novel prion protein variant in a patient with semantic dementia.
J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):890-892. doi: 10.1136/jnnp-2017-315577. Epub 2017 Jun 1.
2
[Genetic Creutzfeldt-Jakob disease with a glutamate-to-lysine substitution at codon 219 (E219K) in the presence of the E200K mutation presenting with rapid progressive dementia following slowly progressive clinical course].
Rinsho Shinkeigaku. 2018 Nov 28;58(11):682-687. doi: 10.5692/clinicalneurol.cn-001206. Epub 2018 Oct 27.
3
How an Infection of Sheep Revealed Prion Mechanisms in Alzheimer's Disease and Other Neurodegenerative Disorders.
Int J Mol Sci. 2021 May 4;22(9):4861. doi: 10.3390/ijms22094861.
4
Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.
Int J Mol Sci. 2019 Jul 23;20(14):3606. doi: 10.3390/ijms20143606.
5
Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion.
Viruses. 2021 Sep 8;13(9):1794. doi: 10.3390/v13091794.
6
Variant Creutzfeldt-Jakob disease strain is identical in individuals of two PRNP codon 129 genotypes.
Brain. 2019 May 1;142(5):1416-1428. doi: 10.1093/brain/awz076.
7
Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carrier.
Acta Neuropathol Commun. 2019 Mar 21;7(1):47. doi: 10.1186/s40478-019-0699-1.
8
Diagnosis of Methionine/Valine Variant Creutzfeldt-Jakob Disease by Protein Misfolding Cyclic Amplification.
Emerg Infect Dis. 2018 Jul;24(7):1364-1366. doi: 10.3201/eid2407.172105.
9
No Adaptation of the Prion Strain in a Heterozygous Case of Variant Creutzfeldt-Jakob Disease.
Emerg Infect Dis. 2020 Jun;26(6):1300-1303. doi: 10.3201/eid2606.191116.
10
Biochemical features of genetic Creutzfeldt-Jakob disease with valine-to-isoleucine substitution at codon 180 on the prion protein gene.
Biochem Biophys Res Commun. 2018 Feb 19;496(4):1055-1061. doi: 10.1016/j.bbrc.2018.01.119. Epub 2018 Jan 31.
引用本文的文献
1
Genetic variability of and its targets and in frontotemporal dementia: A pilot study in a southern Italian population.
Heliyon. 2024 May 22;10(11):e31624. doi: 10.1016/j.heliyon.2024.e31624. eCollection 2024 Jun 15.
2
Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism.
Front Aging Neurosci. 2022 Apr 15;14:830602. doi: 10.3389/fnagi.2022.830602. eCollection 2022.
本文引用的文献
1
Quantifying prion disease penetrance using large population control cohorts.
Sci Transl Med. 2016 Jan 20;8(322):322ra9. doi: 10.1126/scitranslmed.aad5169.
2
A novel prion disease associated with diarrhea and autonomic neuropathy.
N Engl J Med. 2013 Nov 14;369(20):1904-14. doi: 10.1056/NEJMoa1214747.
3
Validation of next-generation sequencing technologies in genetic diagnosis of dementia.
Neurobiol Aging. 2014 Jan;35(1):261-5. doi: 10.1016/j.neurobiolaging.2013.07.017. Epub 2013 Aug 31.
4
PRNP mutations in a series of apparently sporadic neurodegenerative dementias in China.
Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):938-44. doi: 10.1002/ajmg.b.30761.
5
Semantic dementia: a unique clinicopathological syndrome.
Lancet Neurol. 2007 Nov;6(11):1004-14. doi: 10.1016/S1474-4422(07)70266-1.
6
Definable equilibrium states in the folding of human prion protein.
Biochemistry. 2005 Dec 20;44(50):16649-57. doi: 10.1021/bi051277k.
7
Crystal structure of the human prion protein reveals a mechanism for oligomerization.
Nat Struct Biol. 2001 Sep;8(9):770-4. doi: 10.1038/nsb0901-770.
Zotero 插件