SHORT REPORT Octapeptide repeat insertions in the prion protein gene and early onset dementia
نویسندگان
چکیده
E A Croes, J Theuns, J J Houwing-Duistermaat, B Dermaut, K Sleegers, G Roks, M Van den Broeck, B van Harten, J C van Swieten, M Cruts, C Van Broeckhoven, C M van Duijn . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
Octapeptide repeat insertions in the prion protein gene and early onset dementia.
OBJECTIVES The most common familial early onset dementia mutations are found in the genes involved in Alzheimer's disease; the amyloid precursor protein (APP) and the presenilin 1 and 2 (PSEN1 and 2) genes; the prion protein gene (PRNP) may be involved. METHODS Following identification of a two-octapeptide repeat insertion in PRNP, we conducted a meta-analysis to investigate the relation of n...
متن کاملRapidly progressive dementia syndrome associated with a novel four extra repeat mutation in the prion protein gene.
OBJECTIVE To gain a better understanding of how mutations of the prion protein (PrP) gene are responsible for progressive dementia syndrome and to clarify the correlation between genotype and phenotype, which should help to explain how the prion promotes neurological symptoms. BACKGROUND Genetic prion diseases are associated with point or insertional mutations in the PrP gene. The insertional...
متن کاملA case with a 120 base pair insertional mutation in the prion protein gene: the first case in Japan.
Familial prion diseases are associated with underlying mutations in the prion protein gene located on the short arm of human chromosome 20. The normal and wild type of the prion protein gene encodes the cellular prion protein, PrP, and it is thought that there is a post-translational modification to a disease related form, protease resistant PrP. PrP and PrP have the same amino acid sequence, b...
متن کاملProminent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene.
In five generations of the French M-E kindred, 11 members are now known to be or have been affected by a form of spongiform encephalopathy previously recorded as Gerstmann-Sträussler-Scheinker disease. Mean age at onset was 28 years (range 21-34 years). In six instances, these patients were hospitalized in psychiatric institutions with various diagnoses, the most frequent being mania or mania-l...
متن کاملA New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report
Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. CDKL5 mutations have been shown to be more frequent among female patients. Results Here we report a 6- month male patient, second child of a healthy non consanguineous in the Irani...
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تاریخ انتشار 2004