PMID- 17319286
OWN - NLM
STAT- MEDLINE
DCOM- 20070329
LR  - 20220409
IS  - 0919-6544 (Print)
IS  - 0919-6544 (Linking)
VI  - 27
IP  - 1
DP  - 2007 Feb
TI  - Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279K 
      tau mutation.
PG  - 73-80
AB  - We present a case of frontotemporal dementia and parkinsonism linked to 
      chromosome 17 (FTDP-17) harboring the N279K mutation in the MAPT gene from the 
      family known as pallido-ponto-nigral degeneration (PPND). This 49-year-old man 
      was followed for 17 years. He presented at age 41 years with left leg stiffness 
      and en-bloc turning. During the course of his illness he developed a 
      constellation of symptoms including parkinsonism, pyramidal signs, vertical gaze 
      palsy, dysphagia, dystonia, personality and cognitive dysfunction, weight loss 
      and mutism. Gross neuropathological examination showed mild atrophy of the 
      cerebral cortex, hippocampal formation, amygdala, thalamus, subthalamic nucleus 
      and depigmentation of the substantia nigra. Microscopy revealed neuronal loss and 
      gliosis in the same regions. Tau immunohistochemistry showed pretangles, numerous 
      threads, grain-like structures and oligodendroglial tau-positive inclusions 
      ("coiled bodies"). In the spinal cord the tau pathology was more abundant in gray 
      than white matter. Pretangles and threads were present in the anterior and, to a 
      lesser extent, in the posterior horns. FTDP-17 should be suspected in patients 
      with a history of familial parkinsonism combined with behavioral and cognitive 
      changes, onset before age 65 years and an aggressive clinical course.
FAU - Slowinski, Jerzy
AU  - Slowinski J
AD  - Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA. slovy@mp.pl
FAU - Dominik, Jake
AU  - Dominik J
FAU - Uitti, Ryan J
AU  - Uitti RJ
FAU - Ahmed, Zeshan
AU  - Ahmed Z
FAU - Dickson, Dennis D
AU  - Dickson DD
FAU - Wszolek, Zbigniew K
AU  - Wszolek ZK
LA  - eng
GR  - P01 NS 40256/NS/NINDS NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - Australia
TA  - Neuropathology
JT  - Neuropathology : official journal of the Japanese Society of Neuropathology
JID - 9606526
RN  - 0 (MAPT protein, human)
RN  - 0 (tau Proteins)
SB  - IM
MH  - Adult
MH  - Brain/metabolism/*pathology
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Dementia/complications/*genetics/*pathology
MH  - Humans
MH  - Immunohistochemistry
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Parkinsonian Disorders/complications/*genetics/*pathology
MH  - Spinal Cord/pathology
MH  - tau Proteins/genetics/metabolism
EDAT- 2007/02/27 09:00
MHDA- 2007/03/30 09:00
CRDT- 2007/02/27 09:00
PHST- 2007/02/27 09:00 [pubmed]
PHST- 2007/03/30 09:00 [medline]
PHST- 2007/02/27 09:00 [entrez]
AID - 10.1111/j.1440-1789.2006.00742.x [doi]
PST - ppublish
SO  - Neuropathology. 2007 Feb;27(1):73-80. doi: 10.1111/j.1440-1789.2006.00742.x.