PMID- 12662318
OWN - NLM
STAT- MEDLINE
DCOM- 20030516
LR  - 20190922
IS  - 0305-1846 (Print)
IS  - 0305-1846 (Linking)
VI  - 29
IP  - 2
DP  - 2003 Apr
TI  - Phenotypic variability in the brains of a family with a prion disease 
      characterized by a 144-base pair insertion in the prion protein gene.
PG  - 98-105
AB  - The use of prion protein (PrP) immunohistochemistry in neuropathology has allowed 
      identification of prion diseases with otherwise atypical histological features. 
      The brains from family members with familial prion diseases can show marked 
      histological variation. A histological and immunohistochemical study was 
      performed on 10 brains of patients with a familial prion disease caused by a 
      144-base pair (bp) insertion in the prion protein gene. The histology from the 
      cases showed variability in the severity of spongiform change and astrocytosis in 
      both the cerebellum and the cerebrum. There was also variability in the density 
      of microglial cells. The PrP immunohistochemistry revealed that in nine cases 
      there was a similar patch-like deposition of PrP within the molecular layer of 
      the cerebellum. Although in the cerebellum there did seem to be some correlation 
      between the severity of spongiform change, astrocytosis and the density of 
      microglial cells, there was no such correlation between any of these three 
      parameters and the density of PrP staining. There was deposition of beta-amyloid 
      precursor protein (beta-APP) in the cerebellum, suggesting that disrupted axonal 
      transport had a possible role in the evolution of the disease. The cases 
      illustrate the histological variability that can occur in familial prion diseases 
      despite similarity in PrP staining. They also reveal that the relationship 
      between PrP deposition and cerebral or cerebellar damage might be complex.
FAU - King, A
AU  - King A
AD  - Department of Neuropathology, Institute of Psychiatry, Kings College London, 
      London, UK. Andrew.King@haveringh-tr.nthames.nhs.uk
FAU - Doey, L
AU  - Doey L
FAU - Rossor, M
AU  - Rossor M
FAU - Mead, S
AU  - Mead S
FAU - Collinge, J
AU  - Collinge J
FAU - Lantos, P
AU  - Lantos P
LA  - eng
PT  - Journal Article
PL  - England
TA  - Neuropathol Appl Neurobiol
JT  - Neuropathology and applied neurobiology
JID - 7609829
RN  - 0 (Prions)
SB  - IM
MH  - Adult
MH  - Brain/metabolism/*pathology
MH  - Female
MH  - Humans
MH  - Immunohistochemistry
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Pedigree
MH  - Phenotype
MH  - Prion Diseases/*genetics/*pathology
MH  - Prions/genetics/metabolism
EDAT- 2003/03/29 05:00
MHDA- 2003/05/17 05:00
CRDT- 2003/03/29 05:00
PHST- 2003/03/29 05:00 [pubmed]
PHST- 2003/05/17 05:00 [medline]
PHST- 2003/03/29 05:00 [entrez]
AID - 423 [pii]
AID - 10.1046/j.1365-2990.2003.00423.x [doi]
PST - ppublish
SO  - Neuropathol Appl Neurobiol. 2003 Apr;29(2):98-105. doi: 
      10.1046/j.1365-2990.2003.00423.x.