期刊
JOURNAL OF THE NEUROLOGICAL SCIENCES
卷 287, 期 1-2, 页码 253-256出版社
ELSEVIER
DOI: 10.1016/j.jns.2009.08.063
关键词
Diagnosis; FTDP-17; Heterogeneity; IVS10+16C > T mutation; MAPT gene; Tauopathy
Two families with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) resulting from the microtubule associated protein tau (MAPT) gene IVS10+16C>T splice site mutation are reported, members of which showed variable clinical phenotypes at presentation. Possible explanations for the intra- and interfamilial clinical heterogeneity associated with this MAPT mutation are discussed. (C) 2009 Elsevier B.V. All rights reserved.
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