Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Inherited prion disease with 5-OPRI: Phenotype modification by repeat length and codon 129
Neurology, Volume 69, No. 8, Year 2007
Notification
URL copied to clipboard!
Description
BACKGROUND: Humanprion diseases have sporadic, acquired and inherited etiologies and show considerable phenotypic heterogeneity. An individual inherited prion disease offers an opportunity to study the determinants of this clinicopathologic heterogeneity among individuals with the same causal mutation. METHODS: We report clinical and pathologic data from three families with different 5-octapeptide repeat insertion (5-OPRI) mutations of the prion protein gene (PRNP), extending the reported phenotypic range of this mutation. RESULTS: The proband of a South African family presented with a rapidly progressive dementia and atypical pathology associated with kuru-like prion protein plaques. The original mutation in this family probably occurred on a PRNP allele encoding a 1-octapeptide repeat deletion polymorphism. This has not been previously reported as a precursor allele in over 30 other OPRI mutation kindreds. An English family with a genetically distinct mutation but identical protein product showed clinical onsets that varied 30 years between father and daughter, an effect that may be explained by their genotypes at PRNP codon 129. A patient from Northern Ireland with a phenotype of sporadic Creutzfeldt-Jakob disease presenting with visual disturbance was unexpectedly found to have a 5-OPRI. CONCLUSIONS: When these cases were combined with the existing world literature, the mean age at onset for patients with 5-octapeptide repeat insertion (5-OPRI) was significantly later than that for patients with 6-OPRI, but both mutations exhibit a similar powerful disease modifying effect of PRNP codon 129. ©2007AAN Enterprises, Inc.
Authors & Co-Authors
Mead, Simon H.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Webb, Thomas E.F.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Campbell, Tracy A.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Beck, Jonathan A.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Linehan, Jacqueline M.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Rutherfoord, Stuart
South Africa, Stellenbosch
Stellenbosch University
Joiner, Susan
United Kingdom, London
Ucl Queen Square Institute of Neurology
Wadsworth, Jonathan D.F.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Heckmann, Jeannine M.
South Africa, Observatory
Groote Schuur Hospital
Wroe, Stephen J.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Doey, Lawrence J.
United Kingdom, London
King's College Hospital
King, Andrew P.
United Kingdom, London
King's College Hospital
Collinge, John C.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Statistics
Citations: 58
Authors: 13
Affiliations: 4
Identifiers
Doi:
10.1212/01.wnl.0000267642.41594.9d
ISSN:
00283878
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Mental Health