Clinical and neuroimaging features of frontotemporal dementia with parkinsonism linked to chromosome 17
10.3760/cma.j.issn.1006-7876.2017.01.004
- VernacularTitle:家族性额颞叶痴呆合并帕金森综合征临床和影像学特征分析
- Author:
Liyong WU
;
Xueyan FENG
;
Hanzhi LI
;
Wei QIN
;
Jing DONG
;
Yan LU
;
Jia LIU
;
Jianping JIA
- Keywords:
Frontotemporal dementia;
Parkinsonism;
Microtubule-associated protein tau gene;
Glucose metabolism;
Dopamine transporter
- From:
Chinese Journal of Neurology
2017;50(1):11-16
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical and neuroimaging features of a frontotemporal dementia with parkinsonism linked to chromosome 17 ( FTDP-17 ) pedigree caused by mutation of microtubule-associated protein tau ( MAPT) gene.Methods The proband and one patient from a FTDP-17 pedigree were assessed through standardized clinical evaluation , neuropsychology assessment , video-electroencephalogrom ,MRI, genetic sequencing , as well as 18 F fludeoxyglucose ( FDG) SPECT for brain metabolism and 11 C 2β-carbomethoxy-3β-( 4-fluoro ) tropane ( CFT ) PET for dopamine transporter ( DAT ) distribution, respectively.Results A FTDP pedigree with 15 patients (6 still alive) was recruited to this study.The proband and one affected patient were genotyped and confirmed as MAPT c .1788T>G mutation. Parkinsonism was the first symptom for both two patients . Personality, speech changes and dementia accompanied with brain atrophy were developed at the later stage in one patient .The 18 F FDG SPECT studies illustrated asymmetric hypometabolism of the temporal , frontal lobes and basal ganglia in two patients . Regarding to the 11 C CFT PET, one affected patient showed asymmetric decreased uptake of tracer in basal ganglia regions.Conclusions FTDP-17 can display a confusingly broad clinical phenotype , with the parkinsonism as the first symptom . Brain glucose metabolism and DAT distribution could be potential biomarkers in early diagnosis of FTDP-17.
