No evidence for prion protein gene locus multiplication in Creutzfeldt-Jakob disease
Section snippets
Conflict of interest
The authors declare that they have no conflict of interest.
Acknowledgements
The Australian National Creutzfeldt-Jakob disease Registry (ANCJDR) is funded by the Commonwealth Department of Health and Ageing. This work was supported in part by an NH&MRC Program Grant (#400202). SJC is supported by an NH&MRC Practitioner Fellowship (#400183) and by an NH&MRC Project Grant (#454546). The Dutch CJD Surveillance is funded by the Dutch Ministry of Health, Welfare and Sports. The ANCJDR and the Dutch Surveillance Center thank the families of all the sporadic CJD patients and
References (13)
- et al.
Impairment of proteasome structure and function in aging
The International Journal of Biochemistry & Cell Biology
(2002) - et al.
Surgical treatment and risk of sporadic Creutzfeldt-Jakob disease: a case–control study
Lancet
(1999) - et al.
Transmissible spongiform encephalopathies
Lancet
(2004) - et al.
Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease
Lancet
(2004) - et al.
Creutzfeldt-Jakob disease in Australia 1970–1999
Neurology
(2002) - et al.
Genetic prion disease: the EUROCJD experience
Human Genetics
(2005)
Cited by (4)
Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series
2012, Neurobiology of AgingCitation Excerpt :While these studies uncovered an important mutational mechanism at APP, several questions remain about the frequency of these mutations in larger, less selected APP patient cohorts in different countries and the associated phenotypic spectrum. So far as we are aware, PRNP CNV in human prion disease has been explored in only 1 series (Collins et al., 2010). The entire patient cohort consisted of 1531 samples held at the UCL Department of Neurodegenerative Disease.
Age at onset of genetic (E200K) and sporadic Creutzfeldt-Jakob diseases is modulated by the CYP4X1 gene
2018, Journal of Neurology, Neurosurgery and Psychiatry
- 1
Present address: Institute of Molecular and Cellular Biology, Faculty of Biological Sciences, LIGHT Laboratories, Clarendon Way, University of Leeds, Leeds LS2 9JT, United Kingdom.