Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family.
Neurology
; 49(1): 133-41, 1997 Jul.
Article
em En
| MEDLINE
| ID: mdl-9222181
ABSTRACT
Three members of a Basque family carrying a novel six R2 octapeptide repeat 144-bp insertion in the prion protein gene (PRNP) showed a slowly progressive dementia associated with cerebellar signs, myoclonic jerks, and seizures. Although postmortem examination revealed only focal and minimal spongiform degeneration in one subject with a 4-year course, significant astrogliosis and neuronal loss were associated with pronounced spongiform degeneration in the patient with a duration of symptoms of 10 years. Prion protein (PrP)-immunoreactive patches with a unique morphology were present in the molecular layer of the cerebellum in both subjects. Western blot analysis demonstrated the presence of protease-resistant prion protein (PrPres) with the same characteristics (size and ratio of the three differently glycosylated isoforms) of that found in typical sporadic Creutzfeldt-Jakob disease (CJD129M/M, PrPres type 1). The amount of PrPres correlated with presence and severity of spongiform degeneration in the cerebral cortex. The findings suggest that a relatively low rate of PrPres deposition is the cause of the lack of spongiform degeneration in subjects carrying a 144-bp insertion in PRNP. The presence of PrP-immunoreactive patches with unique morphology in the molecular layer of the cerebellum is a hallmark of certain prion encephalopathies with insertional mutations and is useful in the diagnosis of this subtype of human prion disease.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Príons
/
Doenças Priônicas
Limite:
Adult
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Neurology
Ano de publicação:
1997
Tipo de documento:
Article