期刊
MOVEMENT DISORDERS
卷 23, 期 9, 页码 1269-1273出版社
WILEY
DOI: 10.1002/mds.22078
关键词
progranulin; frontotemporal dementia; corticobasal syndrome; Portuguese population
资金
- Medical Research Council [G0701075] Funding Source: researchfish
- MRC [G0701075] Funding Source: UKRI
- Intramural NIH HHS Funding Source: Medline
- Medical Research Council [G0701075] Funding Source: Medline
Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FFD) in many families. Different frequencies of these genetic changes have been reported in diverse populations leading us to determine if these mutations were a major cause of FFD in the Portuguese population. The entire coding sequence plus exon 0 of PGRN were sequenced in a consecutive series of 46 FTD/CBS Portuguese patients. Two mutations were found: a novel pathogenic insertion (p.Gln300GlnfsX61) and a previously described point variant (p.T182M) of unclear pathogenicity. Pathogenic mutations in the PGRN gene were found in one of the 36 probands studied (3% of the probands in our series) who had a corticobasal syndrome presentation, indicating that in the Portuguese population, mutations in this gene are not a major cause of FFD. (C) 2008 Movement Disorder Society.
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