Diffusion-weighted imaging negative M232R familial Creutzfeldt-Jakob disease

Kang, Yoon‐Jung; Kim, Kyung-Hye; Jang, Sung-Hwan; Lee, Gha-Hyun; Lee, Yoon-Jung; Kim, Yong‐Sun; Kim, Eun-Joo

doi:10.1016/j.jocn.2019.03.019

Cited by 2 publications

(1 citation statement)

References 13 publications

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“…Although the clinical course of FTD-13 and FTD-39 progressed somewhat rapidly, all DWIs repeatedly performed at one-month intervals were negative. Since the DWI negative p.M232R cases were presented recently [ 30 ], it is possible that both patients might have developed myoclonus, which is a typical feature of CJD, or demonstrated periodic sharp and wave complexes on EEG or positive DWIs later on.…”

Section: Discussionmentioning

confidence: 99%

Genetic Screening in Korean Patients with Frontotemporal Dementia Syndrome

Kim

et al. 2022

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Background: Frontotemporal dementia (FTD) syndrome is a genetically heterogeneous group of diseases. However, pathogenic variants in the chromosome 9 open reading frame 72 (C9orf72), microtubule-associated protein tau (MAPT), and progranulin (GRN) genes are mainly associated with genetic FTD in Caucasian populations. Objective: To understand the genetic background of Korean patients with FTD syndrome. Methods: We searched for pathogenic variants of 52 genes related to FTD, amyotrophic lateral sclerosis, familial Alzheimer’s disease, and other dementias, and hexanucleotide repeats of the C9orf72 gene in 72 Korean patients with FTD using whole exome sequencing and the repeat-primed polymerase chain reaction, respectively. Results: One likely pathogenic variant, p.G706R of MAPT, in a patient with behavioral variant FTD (bvFTD) and 13 variants of uncertain significance (VUSs) in nine patients with FTD were identified. Of these VUSs, M232R of the PRNP gene, whose role in pathogenicity is controversial, was also found in two patients with bvFTD. Conclusions: These results indicate that known pathogenic variants of the three main FTD genes (MAPT, GRN, and C9orf72) in Western countries are rare in Korean FTD patients.

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Section: Discussionmentioning

confidence: 99%

Genetic Screening in Korean Patients with Frontotemporal Dementia Syndrome

Kim

et al. 2022

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Prion Mutations in Republic of Republic of Korea, China, and Japan

Kim

Shim

Bagyinszky

et al. 2022

IJMS

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Prion gene (PRNP) mutations are associated with diverse disease phenotypes, including familiar Creutzfeldt–Jakob Disease (CJD), Gerstmann–Sträussler–Scheinker disease (GSS), and fatal familial insomnia (FFI). Interestingly, PRNP mutations have been reported in patients diagnosed with Alzheimer’s disease, dementia with Lewy bodies, Parkinson’s disease, and frontotemporal dementia. In this review, we describe prion mutations in Asian countries, including Republic of Republic of Korea, China, and Japan. Clinical phenotypes and imaging data related to these mutations have also been introduced in detail. Several prion mutations are specific to Asians and have rarely been reported in countries outside Asia. For example, PRNP V180I and M232R, which are rare in other countries, are frequently detected in Republic of Korea and Japan. PRNP T188K is common in China, and E200K is significantly more common among Libyan Jews in Israel. The A117V mutation has not been detected in any Asian population, although it is commonly reported among European GSS patients. In addition, V210I or octapeptide insertion is common among European CJD patients, but relatively rare among Asian patients. The reason for these differences may be geographical or ethical isolation. In terms of clinical phenotypes, V180I, P102L, and E200K present diverse clinical symptoms with disease duration, which could be due to other genetic and environmental influences. For example, rs189305274 in the ACO1 gene may be associated with neuroprotective effects in cases of V180I mutation, leading to longer disease survival. Additional neuroprotective variants may be possible in cases featuring the E200K mutation, such as KLKB1, KARS, NRXN2, LAMA3, or CYP4X1. E219K has been suggested to modify the disease course in cases featuring the P102L mutation, as it may result in the absence of prion protein-positive plaques in tissue stained with Congo red. However, these studies analyzed only a few patients and may be too preliminary. The findings need to be verified in studies with larger sample sizes or in other populations. It would be interesting to probe additional genetic factors that cause disease progression or act as neuroprotective factors. Further studies are needed on genetic modifiers working with prions and alterations from mutations.

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Diffusion-weighted imaging negative M232R familial Creutzfeldt-Jakob disease

Cited by 2 publications

References 13 publications

Genetic Screening in Korean Patients with Frontotemporal Dementia Syndrome

Genetic Screening in Korean Patients with Frontotemporal Dementia Syndrome

Prion Mutations in Republic of Republic of Korea, China, and Japan

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