期刊
NEUROLOGY
卷 63, 期 9, 页码 1702-1704出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.WNL.0000143060.98164.1A
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资金
- Medical Research Council [G116/143] Funding Source: Medline
- MRC [G116/143] Funding Source: UKRI
- Alzheimers Research UK [ART-EG2003B-2] Funding Source: researchfish
- Medical Research Council [G116/143] Funding Source: researchfish
Presenilin (PSEN)1 mutations are responsible for many cases of autosomal dominant Alzheimer disease ( AD), although the clinical spectrum has not been fully defined. The authors describe two members of a kindred with a novel PSEN1 mutation (R278I) presenting with language impairment and relative preservation of memory. Screening for PSEN1 mutations may be appropriate in cases of familial dementia even where the clinical phenotype is not typical of AD.
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