Inherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family

Kovács, G. G.; Ertsey, C.; Majtényi, C.; Jelencsik, I.; László, L.; Flicker, H.; Strain, L.; Szirmai, I.; Budka, H.
June 2001
Journal of Neurology, Neurosurgery & Psychiatry;Jun2001, p802
Academic Journal
No abstract available.


Related Articles

  • Inherited prion disease (PrP lysine 200) in Britain: two case reports. Collinge, John; Palmer, Mark S.; Campbell, Tracy; Sidle, Katie C.L.; Carroll, Desmond; Harding, Anita // BMJ: British Medical Journal (International Edition);1/30/93, Vol. 306 Issue 6873, p301 

    Evaluates the phenotypic features of inherited prion disease in Great Britain. Findings of inherited prion protein disease in patients with sporadic Creutzfeldt-Jakob disease; Observation on the mutation of the protein gene; Effect on the heterozygosity at codon 129.

  • Creutzfeldt-Jakob disease explained. Morris, David // GP: General Practitioner;10/20/2003, p72 

    The article presents information about Creutzfeldt-Jakob disease (CJD). The prion protein is thought to be responsible for CJD. CJD is a progressive, degenerative neurological condition affecting the brain and is in variably fatal. A normal prion protein that does not cause disease is thought to...

  • Gerstmann-Sträussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementia. Woulfe, John; Kertesz, Andrew; Frohn, Inge; Bauer, Sharon; St. George-Hyslop, Peter; Bergeron, Catherine // Acta Neuropathologica;Sep2005, Vol. 110 Issue 3, p317 

    Presents a letter to the editor about Gertsmann-Straussler-Scheinker disease, a dominantly inherited neurodegenerative disorder caused by mutations in the prion protein gene.

  • Familial prion disease in a Hungarian family with a novel 144-base pair insertion in the prion protein gene. Kovács, T.; Beck, J. A.; Papp, M. I.; Lantos, P. L.; Arányi, Z.; Szirmai, I. G.; Farsang, M.; Stuke, A.; Csillik, A.; Collinge, J. // Journal of Neurology, Neurosurgery & Psychiatry;Mar2007, Vol. 78 Issue 3, p321 

    About 15% of human prion diseases are inherited, and are associated with point or insertional mutations of the prion protein gene (PRNP). Four families with six octapeptide repeat insertions (OPRI) in the PRNP gene have been described in the literature so far. Here we report two cases in a...

  • Genética de las enfermedades priónicas. Yescas-Gómez, Petra; López-López, Marisol; Franco, José Luis; Alonso-Vilatela, María Elisa // Archivos de Neurociencias;oct-dic2008, Vol. 13 Issue 4, p242 

    Prion diseases are a group of fatal neurodegenerative disorders that occur in inherited, acquired and sporadic forms, a characteristic that makes them unique. Herein, we review the literature to update the current knowledge of these diseases, with particular emphasis on the inherited forms. The...

  • PATU2 Novel truncation mutation of PRNP causes chronic diarrhoea, sensory neuropathy and autonomic failure associated with prion protein deposition in the cerebral blood vessels and small bowel. S Mead // Journal of Neurology, Neurosurgery & Psychiatry;Nov2010, Vol. 81 Issue 11, pe24 

    The inherited prion diseases (IPD) are a group of dominantly inherited neurodegenerative disorders caused by mutation of the prion protein gene (PRNP). Although clinically heterogeneous, IPDs are generally associated with progressive dementia, ataxia and with characteristic pathology. Here we...

  • Insomnia in Prion Diseases: Sporadic and Familial. Gambetti, Pierluigi; Parchi, Piero // New England Journal of Medicine;05/27/99, Vol. 340 Issue 21, p1675 

    Editorial. Comments on human prion diseases that are sporadic, inherited, or acquired by infection. The major types of the scrapie prion protein isoform associated with human prion disease; Reference to a study by Mastrianni et al in this issue describing fatal familial insomnia; Suggestion for...

  • Strukturna istraživanja prionskih proteina. Biljan, I. // Kemija u Industriji;2014, Vol. 63 Issue 1/2, p11 

    Misfolding of normal, cellular prion protein (PrP[sup C][ into a pathological form called prion or PrP[sup Sc][is connected with a group of fatal neurodegenerative disorders known as prion diseases or transmissible spongiform encephalopathies. Molecular mechanism of prion formation still remains...

  • Early and persistent sensory-psychiatric symptoms in an inherited prion disease with a PrP P105L mutation. Shiraishi, Atsushi; Mizusawa, Hidehiro; Yamada, Masahito // Journal of Neurology;Dec2002, Vol. 249 Issue 12, p1740 

    Presents a letter to the editor regarding a medical case report of a 57-year old Japanese patient diagnosed with sensory-psychiatric symptoms in an inherited prion disease with a prion protein P105L mutation discovered through prion protein analysis five years after onset.

  • Prion disease genetics. Mead, Simon // European Journal of Human Genetics;Mar2006, Vol. 14 Issue 3, p273 

    Prion diseases have stimulated intense scientific scrutiny since it was proposed that the infectious agent was devoid of nucleic acid. Despite this finding, genetics has played a key role in understanding the pathobiology and clinical aspects of prion disease through the effects of a series of...


Read the Article


Sign out of this library

Other Topics