Inherited Creutzfeldt–Jakob disease with four-octapeptide repeat insertional mutation in the prion gene-Reference-Cited by-同舟云学术

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Inherited Creutzfeldt–Jakob disease with four-octapeptide repeat insertional mutation in the prion gene

Published:2021 Issue:5 Volume:61 Page:314-318
ISSN:0009-918X
Container-title:Rinsho Shinkeigaku
language:en
Short-container-title:Rinsho Shinkeigaku

Author:

Douzono Mika¹,Nobuhara Yasuyuki¹,Maruta Kyouko¹,Okamoto Yuji²³,Sonoda Yoshito¹,Takashima Hiroshi²

Affiliation:

1. Department of Neurology, National Hospital Organization Minamikyushu Hospital

2. Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences

3. Department of Physical Therapy, School of Health Sciences, Faculty of Medicine, Kagoshima University

Publisher

Societas Neurologica Japonica

Subject

Clinical Neurology

Link

https://www.jstage.jst.go.jp/article/clinicalneurol/61/5/61_cn-001558/_pdf

Reference17 articles.

1. 2) Ladogana A, Kovacs GG. Genetic Creutzfeldt-Jakob disease. Pocchiari M, Manso J. Handbook of Clinical Neurology Vol. 153 (3rd series). Human Prion Diseases. https://doi.org/10.1016/B978-0-444-63945-5.00013-1. 2018. p. 219-241.

2. 3) Goldfarb LG, Brown P, McCombie WR, et al. Transmissible familial Creutzfeldt-Jakob disease with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc Natl Acad Sci U S A 1991;88:10926-10930.

3. 4) Takada L, Kim M-O, Metcalf S, et al. Prion disease. Geschwind DH, Paulson HL, Klein C. Handbook of Clinical Neurology. Vol 148 (3rd series). Neurogenetics Part II. https://doi.org/10.1016/B978-0-444-64076-5.00029-6. 2018. p. 441-464.

4. 5) Piazza M, Prior TW, Khalsa PS, et al. A case report of genetic prion disease with two different PRNP variants. Mol Genet Genomic Med 2020;8. [cited 2020 Jun 29]. Available from: https://doi.org/10.1002/mgg3.1134.

5. 6) Croes EA, Theuns J, Houwing-Duisetermaat JJ, et al. Octapeptide repeat insertions in the prion protein gene and early onset dementia. J Neurol Neurosurg Psychiatry 2004;75:1166-1170.

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