TY  - JOUR
SP  - 215
A1  - Ghetti, Bernardino
A1  - Spina, Salvatore
A1  - Murrell, Jill R.
A1  - Huey, Edward D
A1  - Pietrini, Pietro
A1  - Sweeney, B.
A1  - Wassermann, Eric M.
A1  - Keohane, C.
A1  - Farlow, M.R.
A1  - Grafman, Jordan
PB  - Karger
IS  - 3-4
JF  - Neurodegenerative Diseases
Y1  - 2008///
VL  - 5
N2  - Background: Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is associated with mutations in the Microtubule-Associated Protein Tau(MAPT) gene or the Progranulin(PGRN) gene. MAPT mutations lead to widespread deposition of hyperphosphorylated tau protein (FTDP-17T). PGRN mutations are associated with ubiquitin- and TDP-43-positive inclusions in the frontotemporal cortex, striatum and hippocampus (FTDP-17U). Despite the differences, FTDP-17T and FTDP-17U share a largely overlapping clinical phenotype. Objective: To determine whether neuroimaging studies may allow an in vivo early differentiation between FTDP-17T and FTDP-17U. Methods: We studied 25 individuals affected with FTDP-17T associated with either the exon 10+3 (24 subjects) or the G335S (1 subject) MAPT mutation, as well as 3 FTDP-17U individuals, who were carriers of the A9D, IVS6-2A>G or R493X PGRN mutation. Neuroimaging studies, obtained along the course of the disease, were compared to the neuropathologic findings. Results: FTDP-17T cases were associated with symmetric frontotemporal atrophy. Behavioral changes constituted the predominant clinical presentation. Conversely, an asymmetric degenerative process was seen in all 3 PGRN cases, who presented with either corticobasal syndrome (A9D) or frontotemporal dementia and language deterioration (IVS6-2A>G and R493X). Conclusion: Neuroimaging data, in the early disease stage of FTDP-17, may offer the possibility of an early differentiation of FTDP-17T and FTDP-17U phenotypes, independent of the genetic analysis.
SN  - 1660-2854
UR  - http://www.karger.com/Article/Abstract/113706#
AV  - none
TI  - In vivo and Postmortem Clinicoanatomical Correlations in Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17
EP  - 217
ID  - eprints3075
N1  - Free access from publisher's website
ER  -