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.

A novel insertional mutation in the prion protein gene: clinical and bio-molecular findings / Mauro, C.; Giaccone, G.; Piscosquito, G.; Lavorgna, A.; Nigro, M.; Di Fede, G.; Leonardi, Antonio; Coppola, C.; Formisano, Silvestro; Tagliavini, F.; Cotrufo, R.; Puoti, G.. - In: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. - ISSN 0022-3050. - STAMPA. - 79:12(2008), pp. 1395-1398. [10.1136/jnnp.2007.142976]

A novel insertional mutation in the prion protein gene: clinical and bio-molecular findings.

LEONARDI, ANTONIO;FORMISANO, SILVESTRO;
2008

Abstract

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.
2008
A novel insertional mutation in the prion protein gene: clinical and bio-molecular findings / Mauro, C.; Giaccone, G.; Piscosquito, G.; Lavorgna, A.; Nigro, M.; Di Fede, G.; Leonardi, Antonio; Coppola, C.; Formisano, Silvestro; Tagliavini, F.; Cotrufo, R.; Puoti, G.. - In: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. - ISSN 0022-3050. - STAMPA. - 79:12(2008), pp. 1395-1398. [10.1136/jnnp.2007.142976]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/340872
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