SHORT REPORT Octapeptide repeat insertions in the prion protein gene and early onset dementia

نویسندگان

  • 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
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 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

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Octapeptide repeat insertions in the prion protein gene and early onset dementia.

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A 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...

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Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene.

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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