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Semantic variant primary progressive aphasia with a pathogenic variant p.Asp40Gly in the ANXA11 gene
- Kim, Eun-Joo;
- Moon, So Young;
- Kim, Hee-Jin;
- Jung, Na-Yeon;
- Lee, Sun Min;
- ... Kim, Young Eun
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10초록
We report a patient with right-predominant semantic variant primary progressive aphsia linked with p.Asp40Gly variant of ANXA11, which is the first description of frontotemporal dementia without clinical and electrophysiological evidences of amyotrophic lateral sclerosis associated with a known pathogenic variant of ANXA11.
키워드
ANXA11; amyotrophic lateral sclerosis; frontotemporal dementia; semantic variant primary progressive aphasia; annexin; annexin a11; fluorodeoxyglucose f 18; pasp 40gly; unclassified drug; aged; anamnesis; Article; behavior assessment; brain; brain atrophy; case report; clinical article; clinical feature; daily life activity; disease severity; female; follow up; gene mutation; genetic screening; genetic variability; glucose metabolism; human; neuroimaging; neuropsychiatric inventory; neuropsychological test; positron emission tomography; primary progressive aphasia; semantic variant primary progressive aphasia; short term memory; T1 weighted imaging; T2 weighted imaging; temporal lobe; verbal learning; whole exome sequencing; word recognition; amyotrophic lateral sclerosis; diagnostic imaging; frontotemporal dementia; genetics; primary progressive aphasia; semantics
- 제목
- Semantic variant primary progressive aphasia with a pathogenic variant p.Asp40Gly in the ANXA11 gene
- 저자
- Kim, Eun-Joo; Moon, So Young; Kim, Hee-Jin; Jung, Na-Yeon; Lee, Sun Min; Kim, Young Eun
- 발행일
- 2022-10
- 유형
- Article
- 권
- 29
- 호
- 10
- 페이지
- 3124 ~ 3126
- 언어
- ENG
- 출판사
- WILEY
- 발행국가
- 미국
- 분량
- 3 페이지
- ISSN
- E 1468-1331
P 1351-5101