Frontotemporal dementia with parkinsonism-linked to chromosome 17 (FTDP-17) is a rare autosomal dominant neurodegenerative disorder. Most patients with FTDP-17 carry the mutation in the microtubule-associated protein tau (MAPT) gene. Striatum is predominantly and early affected in FTDP-17. Five family members (two symptomatic patients and three presymptomatic mutation carriers) from a Chinese pedigree of FTDP-17 with N279K mutation in MAPT were enrolled. Parkinsonism was the initial symptom for symptomatic patients. 2b-carbomethoxy-3b-(4-trimethylstannylphenyl) tropane (11C-CFT) uptake was obviously affected in the putamen of two presymptomatic mutation carriers. Presymptomatic case 3, whose 11C-CFT uptake in the right putamen was normal at baseline, was still free of parkinsonism during follow-up. In conclusion, 11C-CFT-positron emission tomography could be a potential biomarker for the presymptomatic stage of FTDP-17 to predict the disease onset.
Baizabal-CarvalloJF, JankovicJ (2016) Parkinsonism, movement disorders and genetics in frontotemporal dementia. Nat Rev Neurol12, 175–185.
2.
LiuJ, ZhuMW, ArzbergerT, WangLN (2015) Frontotemporal lobar degeneration with accumulation of argyrophilic grains and Lewy bodies: A clinicopathological report. J Alzheimers Dis48, 55–58.
3.
GoldmanJS, FarmerJM, WoodEM, JohnsonJK, BoxerA, NeuhausJ, Lomen-HoerthC, WilhelmsenKC, LeeVM, GrossmanM, MillerBL (2005) Comparison of family histories in FTLD subtypes and related tauopathies. Neurology65, 1817–1819.
4.
BoeveBF, HuttonM (2008) Refining frontotemporal dementia with parkinsonism linked to chromosome 17: Introducing FTDP-17 (MAPT) and FTDP-17 (PGRN). Arch Neurol65, 460–464.
5.
SpillantiniMG, MurrellJR, GoedertM, FarlowM, KlugA, GhettiB (2006) Mutations in the tau gene (MAPT) in FTDP-17: The family with multiple system tauopathy with presenile dementia (MSTD). J Alzheimers Dis9, 373–380.
6.
TsuboiY, BakerM, HuttonML, UittiRJ, RascolO, DelisleMB, SoulagesX, MurrellJR, GhettiB, YasudaM, KomureO, KunoS, ArimaK, SunoharaN, KobayashiT, MizunoY, WszolekZK (2002) Clinical and genetic studies of families with the tau N279K mutation (FTDP-17). Neurology59, 1791–1793.
7.
TsuboiY, UittiRJ, DelisleMB, FerreiraJJ, Brefel-CourbonC, RascolO, GhettiB, MurrellJR, HuttonM, BakerM, WszolekZK (2002) Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: A comparison of the pallidopontonigral degeneration kindred and a French family. Arch Neurol59, 943–950.
8.
ReedLA, SchmidtML, WszolekZK, BalinBJ, SoontornniyomkijV, LeeVM, TrojanowskiJQ, SchelperRL (1998) The neuropathology of a chromosome 17-linked autosomal dominant parkinsonism and dementia. J Neuropathol Exp Neurol57, 588–601.
9.
YangY, TangBS, WengL, LiN, ShenL, WangJ, ZuoCT, YanXX, XiaK, GuoJF (2015) Genetic identification is critical for the diagnosis of parkinsonism: A Chinese pedigree with early onset of parkinsonism. PLoS One10, e0136245.
10.
ArvanitakisZ, WitteRJ, DicksonDW, TsuboiY, UittiRJ, SlowinskiJ, HuttonML, LinSC, BoeveBF, CheshireWP, PooleyRA, LissJM, CavinessJN, StrongoskyAJ, WszolekZK (2007) Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation). Parkinsonism Relat Disord13, 230–239.
11.
PalPK, WszolekZK, KishoreA, de la Fuente-FernandezR, SossiV, UittiRJ, DobkoT, StoesslAJ (2001) Positron emission tomography in pallido-ponto-nigral degeneration (PPND) family (frontotemporal dementia with parkinsonism linked to chromosome 17 and point mutation in tau gene). Parkinsonism Relat Disord7, 81–88.
12.
KishoreA, WszolekZK, SnowBJ, de la Fuente-FernandezR, ArwertF, WijkerM, SchulzerM, CalneDB, VingerhoetsFJ (1996) Presynaptic nigrostriatal function in genetically tested asymptomatic relatives from the pallido-ponto-nigral degeneration family. Neurology47, 1588–1590.
13.
MiyoshiM, ShinotohH, WszolekZK, StrongoskyAJ, ShimadaH, ArakawaR, HiguchiM, IkomaY, YasunoF, FukushiK, IrieT, ItoH, SuharaT (2010) In vivo detection of neuropathologic changes in presymptomatic MAPT mutation carriers: A PET and MRI study. Parkinsonism Relat Disord16, 404–408.
14.
WuL, FengX, LiH, QinW, DongJ, LuY, LiuJ, JiaJ (2017) Clinical and neuroimaging features of frontotemporal dementia with parkinsonism linked to chromosome 17. Chin J Neurol50, 11–16.
15.
HorvathJ, BurkhardPR, HerrmannFR, BourasC, KövariE (2014) Neuropathology of parkinsonism in patients with pure Alzheimer’s disease. J Alzheimers Dis39, 115–120.
