PMID- 10581485
OWN - NLM
STAT- MEDLINE
DCOM- 20000224
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 88
IP  - 6
DP  - 1999 Dec 15
TI  - Novel PRNP sequence variant associated with familial encephalopathy.
PG  - 653-6
AB  - Human transmissible spongiform encephalopathies (TSEs) are a group of chronic
      progressive neurodegenerative disorders that may be hereditary, infectious, or
      sporadic. Hereditary TSEs are associated with mutations in the PRNP gene on
      chromosome 20p12-pter. We report on a family in which seven patients developed
      limb and truncal ataxia, dysarthria, myoclonic jerks, and cognitive decline. The 
      age of onset in the 30s, 40s, or 50s, prolonged disease duration, cerebellar
      atrophy on imaging, and the presence of synchronic periodic discharges on
      electroencephalogram suggested a familial encephalopathy resembling
      Gerstmann-Straussler-Scheinker disease. A novel H187R mutation has been
      identified in affected, but not in unaffected, family members or unrelated
      controls suggesting a pathogenic role for this mutation. Am. J. Med. Genet.
      (Neuropsychiatr. Genet.) 88:653-656, 1999. Published 1999 Wiley-Liss, Inc.
FAU - Cervenakova, L
AU  - Cervenakova L
AD  - Laboratory of Central Nervous System Studies, National Institute of Neurological 
      Disorders and Stroke, NIH, Bethesda, Maryland.
FAU - Buetefisch, C
AU  - Buetefisch C
FAU - Lee, H S
AU  - Lee HS
FAU - Taller, I
AU  - Taller I
FAU - Stone, G
AU  - Stone G
FAU - Gibbs, C J Jr
AU  - Gibbs CJ Jr
FAU - Brown, P
AU  - Brown P
FAU - Hallett, M
AU  - Hallett M
FAU - Goldfarb, L G
AU  - Goldfarb LG
LA  - eng
SI  - GENBANK/AF076976
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Amyloid)
RN  - 0 (PRNP protein, human)
RN  - 0 (Prion Proteins)
RN  - 0 (Prions)
RN  - 0 (Protein Precursors)
RN  - EC 3.1.21.4 (Deoxyribonucleases, Type II Site-Specific)
RN  - EC 3.1.21.4 (GCGC-specific type II deoxyribonucleases)
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Amino Acid Substitution/genetics
MH  - Amyloid/chemistry/*genetics
MH  - Base Sequence
MH  - DNA Mutational Analysis
MH  - Deoxyribonucleases, Type II Site-Specific/metabolism
MH  - England/ethnology
MH  - Female
MH  - Genes, Dominant/genetics
MH  - Genetic Variation/*genetics
MH  - Gerstmann-Straussler-Scheinker Disease/*genetics/pathology/physiopathology
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Mutation/genetics
MH  - Pedigree
MH  - Prion Proteins
MH  - Prions
MH  - Protein Precursors/chemistry/*genetics
MH  - Protein Structure, Tertiary
MH  - United States
EDAT- 1999/12/03 09:00
MHDA- 2000/02/26 09:00
CRDT- 1999/12/03 09:00
PHST- 1999/12/03 09:00 [pubmed]
PHST- 2000/02/26 09:00 [medline]
PHST- 1999/12/03 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19991215)88:6<653::AID-AJMG14>3.0.CO;2-E [pii]
AID - 10.1002/(sici)1096-8628(19991215)88:6<653::aid-ajmg14>3.0.co;2-e [doi]
PST - ppublish
SO  - Am J Med Genet. 1999 Dec 15;88(6):653-6. doi:
      10.1002/(sici)1096-8628(19991215)88:6<653::aid-ajmg14>3.0.co;2-e.