A novel insertional mutation in the prion protein gene: clinical and bio-molecular findings.
A young man, presenting with early onset of personality and behavioural changes followed by slowly progressive cognitive impairment associated with marked bi-parietal cerebral atrophy, was found to carry a novel seven extra-repeat insertional mutation in the prion protein gene (PRNP). In vitro, the mutated recombinant prion protein (PrP) showed biochemical properties that were consistent with pathological PrP variants. Our results further underline the heterogeneity of neurological pictures associated with insertional mutations of PRNP, indicating the diagnostic difficulties of sporadic cases with early-onset atypical dementia.
Mauro
C
C
Department of Neurological Sciences, First Division of Neurology, Second University of Naples, Via Pansini 5, 80131 Naples, Italy. gianfranco.puoti@unina2.it
Giaccone
G
G
Piscosquito
G
G
Lavorgna
A
A
Nigro
M
M
Di Fede
G
G
Leonardi
A
A
Coppola
C
C
Formisano
S
S
Tagliavini
F
F
Cotrufo
R
R
Puoti
G
G
D000328:Adult; D001921:Brain / Q000473:pathology; D003001:Cloning, Molecular; D003072:Cognition Disorders / Q000235:genetics*; D003704:Dementia / Q000235:genetics; D019788:Fluorodeoxyglucose F18 / Q000494:pharmacology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000235:genetics; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D019275:Radiopharmaceuticals / Q000494:pharmacology; D011994:Recombinant Proteins / Q000737:chemistry
C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D019275:Radiopharmaceuticals; D011994:Recombinant Proteins; D019788:Fluorodeoxyglucose F18