PMID- 10553987
OWN - NLM
STAT- MEDLINE
DCOM- 19991124
LR  - 20191024
IS  - 0364-5134 (Print)
IS  - 0364-5134 (Linking)
VI  - 46
IP  - 5
DP  - 1999 Nov
TI  - FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused
      by a novel mutation.
PG  - 708-15
AB  - Recently, mutations in the tau gene on chromosome 17 were found causative for
      autosomal dominantly inherited frontotemporal dementia and parkinsonism
      (FTDP-17). We describe a family carrying a missense mutation at nucleotide 1137 C
      --> T, resulting in the amino acid substitution P301S. Methods of investigations 
      include clinical, electrophysiological, and imaging techniques. This kindred
      presents with a novel phenotype characterized by an early onset of rapidly
      progressive frontotemporal dementia and parkinsonism in combination with
      epileptic seizures. We define the dopaminergic deficits as being predominantly
      presynaptic by the use of single-photon emission computed tomography with a
      dopamine transporter ligand. The association of this early-onset phenotype with
      P301S mutation is not entirely consistent with current criteria for the diagnosis
      of frontotemporal dementias and may encourage the search for tau mutations in
      diseases similar but not identical to FTDP-17. Also, the change from proline to
      serine suggests that this mutation might contribute to tau hyperphosphorylation.
FAU - Sperfeld, A D
AU  - Sperfeld AD
AD  - Department of Neurology, University of Ulm, Germany.
FAU - Collatz, M B
AU  - Collatz MB
FAU - Baier, H
AU  - Baier H
FAU - Palmbach, M
AU  - Palmbach M
FAU - Storch, A
AU  - Storch A
FAU - Schwarz, J
AU  - Schwarz J
FAU - Tatsch, K
AU  - Tatsch K
FAU - Reske, S
AU  - Reske S
FAU - Joosse, M
AU  - Joosse M
FAU - Heutink, P
AU  - Heutink P
FAU - Ludolph, A C
AU  - Ludolph AC
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Ann Neurol
JT  - Annals of neurology
JID - 7707449
RN  - 0 (MAPT protein, human)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (tau Proteins)
SB  - IM
CIN - Ann Neurol. 2000 Jul;48(1):126. PMID: 10894228
MH  - Adult
MH  - Age of Onset
MH  - Aged
MH  - Amino Acid Substitution
MH  - Brain/diagnostic imaging/*pathology
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 17
MH  - Dementia/complications/*genetics/physiopathology
MH  - Disease Progression
MH  - Electroencephalography
MH  - Epilepsy/complications/*genetics/physiopathology
MH  - Female
MH  - Frontal Lobe/pathology
MH  - Humans
MH  - Infant, Newborn
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Microtubule-Associated Proteins/*genetics
MH  - Middle Aged
MH  - *Mutation, Missense
MH  - Parkinson Disease/complications/*genetics/physiopathology
MH  - Pedigree
MH  - Phenotype
MH  - Temporal Lobe/pathology
MH  - Tomography, Emission-Computed, Single-Photon
MH  - tau Proteins/*genetics
EDAT- 1999/11/30 00:00
MHDA- 1999/11/30 00:01
CRDT- 1999/11/30 00:00
PHST- 1999/11/30 00:00 [pubmed]
PHST- 1999/11/30 00:01 [medline]
PHST- 1999/11/30 00:00 [entrez]
AID - 10.1002/1531-8249(199911)46:5<708::aid-ana5>3.0.co;2-k [doi]
PST - ppublish
SO  - Ann Neurol. 1999 Nov;46(5):708-15. doi:
      10.1002/1531-8249(199911)46:5<708::aid-ana5>3.0.co;2-k.