PMID- 10374757
OWN - NLM
STAT- MEDLINE
DCOM- 19990707
LR  - 20190513
IS  - 0022-3069 (Print)
IS  - 0022-3069 (Linking)
VI  - 58
IP  - 6
DP  - 1999 Jun
TI  - Frontotemporal dementia and corticobasal degeneration in a family with a P301S
      mutation in tau.
PG  - 667-77
AB  - The tau gene has been found to be the locus of dementia with rigidity linked to
      chromosome 17. Exonic and intronic mutations have been described in a number of
      families. Here we describe a P301S mutation in exon 10 of the tau gene in a new
      family. Two members of this family were affected. One individual presented with
      frontotemporal dementia, whereas his son has corticobasal degeneration,
      demonstrating that the same primary gene defect in tau can lead to 2 distinct
      clinical phenotypes. Both individuals developed rapidly progressive disease in
      the third decade. Neuropathologically, the father presented with an extensive
      filamentous pathology made of hyperphosphorylated tau protein. Biochemically,
      recombinant tau protein with the P301S mutation showed a greatly reduced ability 
      to promote microtubule assembly.
FAU - Bugiani, O
AU  - Bugiani O
AD  - Istituto Neurologico Carlo Besta, Milano, Italy.
FAU - Murrell, J R
AU  - Murrell JR
FAU - Giaccone, G
AU  - Giaccone G
FAU - Hasegawa, M
AU  - Hasegawa M
FAU - Ghigo, G
AU  - Ghigo G
FAU - Tabaton, M
AU  - Tabaton M
FAU - Morbin, M
AU  - Morbin M
FAU - Primavera, A
AU  - Primavera A
FAU - Carella, F
AU  - Carella F
FAU - Solaro, C
AU  - Solaro C
FAU - Grisoli, M
AU  - Grisoli M
FAU - Savoiardo, M
AU  - Savoiardo M
FAU - Spillantini, M G
AU  - Spillantini MG
FAU - Tagliavini, F
AU  - Tagliavini F
FAU - Goedert, M
AU  - Goedert M
FAU - Ghetti, B
AU  - Ghetti B
LA  - eng
GR  - AG10133/AG/NIA NIH HHS/United States
GR  - NS14426/NS/NINDS NIH HHS/United States
GR  - NS37431/NS/NINDS NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - J Neuropathol Exp Neurol
JT  - Journal of neuropathology and experimental neurology
JID - 2985192R
RN  - 0 (tau Proteins)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Basal Ganglia Diseases/*pathology
MH  - Cerebral Cortex/*pathology
MH  - DNA/genetics
MH  - Dementia/*genetics/pathology
MH  - Family Health
MH  - Frontal Lobe/*pathology
MH  - Humans
MH  - Immunohistochemistry
MH  - Magnetic Resonance Imaging
MH  - Microtubules/ultrastructure
MH  - Middle Aged
MH  - Mutation
MH  - *Nerve Degeneration
MH  - Pedigree
MH  - Temporal Lobe/*pathology
MH  - tau Proteins/genetics
EDAT- 1999/06/22 00:00
MHDA- 1999/06/22 00:01
CRDT- 1999/06/22 00:00
PHST- 1999/06/22 00:00 [pubmed]
PHST- 1999/06/22 00:01 [medline]
PHST- 1999/06/22 00:00 [entrez]
AID - 10.1097/00005072-199906000-00011 [doi]
PST - ppublish
SO  - J Neuropathol Exp Neurol. 1999 Jun;58(6):667-77. doi:
      10.1097/00005072-199906000-00011.