Analysis of the prion protein gene in multiple system atrophy

Article English OPEN
Chelban, Viorica; Manole, Andreea; Pihlstrøm, Lasse; Schottlaender, Lucia; Efthymiou, Stephanie; OConnor, Emer; Meissner, Wassilios G.; Holton, Janice L.; Houlden, Henry;
(2017)
  • Publisher: Elsevier BV
  • Journal: Neurobiology of Aging,volume 49,pages216,000,000,000,000,000-216,000,000,000,000,000,000 (issn: 0197-4580, eissn: 1558-1497)
  • Publisher copyright policies & self-archiving
  • Related identifiers: doi: 10.1016/j.neurobiolaging.2016.09.021, pmc: PMC5156473
  • Subject: Genetic Report Abstract | Neuroscience(all) | Sporadic Creutzfeld-Jakob disease | confidence intervals, CI | Ageing | Prion disease | odds ratio, OR | sporadic Creutzfeld-Jakob disease, sCJD | Developmental Biology | Brief Communication | Multiple system atrophy | α-synuclein, α-syn | prion protein, PrP | Geriatrics and Gerontology | PRNP | Clinical Neurology | multiple system atrophy, MSA | cytoplasmic inclusions, GCIs | Multiple system atrophy, PRNP, Prion disease, Prion protein, Sporadic Creutzfeld-Jakob disease | Prion protein
    mesheuropmc: mental disorders | nervous system diseases | animal diseases

Neurodegenerative diseases are a very diverse group of disorders but they share some common mechanisms such as abnormally misfolded proteins with prion-like propagation and aggregation. Creutzfeldt-Jakob disease (CJD) is the most prevalent prion disease in humans. In th... View more
  • References (17)
    17 references, page 1 of 2

    Ahmed, Z., Asi, Y.T., Sailer, A., Lees, A.J., Houlden, H., Revesz, T., Holton, J.L., 2012. The neuropathology, pathophysiology and genetics of multiple system atrophy. Neuropathol. Appl. Neurobiol. 38, 4e24.

    Bird, T., Knopman, D., VanSwieten, J., Rosso, S., Feldman, H., Tanabe, H., Graff-Raford, N., Geschwind, D., Verpillat, P., Hutton, M., 2003. Epidemiology and genetics of frontotemporal dementia/Pick's disease. Ann. Neurol. 54 Suppl 5, S29eS31.

    Collinge, J., 2005. Molecular neurology of prion disease. J. Neurol. Neurosurg. Psychiatry 76, 906e919.

    Hara, K., Momose, Y., Tokiguchi, S., Shimohata, M., Terajima, K., Onodera, O., Kakita, A., Yamada, M., Takahashi, H., Hirasawa, M., Mizuno, Y., Ogata, K., Goto, J., Kanazawa, I., Nishizawa, M., Tsuji, S., 2007. Multiplex families with multiple system atrophy. Arch. Neurol. 64, 545e551.

    Houlden, H., King, R.H., Hashemi-Nejad, A., Wood, N.W., Mathias, C.J., Reilly, M., Thomas, P.K., 2001. A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V. Ann. Neurol. 49, 521e525.

    Huisman, M.H., de Jong, S.W., van Doormaal, P.T., Weinreich, S.S., Schelhaas, H.J., van der Kooi, A.J., de Visser, M., Veldink, J.H., van den Berg, L.H., 2011. Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology. J. Neurol. Neurosurg. Psychiatry 82, 1165e1170.

    Mead, S., Uphill, J., Beck, J., Poulter, M., Campbell, T., Lowe, J., Adamson, G., Hummerich, H., Klopp, N., Ruckert, I.M., Wichmann, H.E., Azazi, D., Plagnol, V., Pako, W.H., Whitfield, J., Alpers, M.P., Whittaker, J., Balding, D.J., Zerr, I., Kretzschmar, H., Collinge, J., 2012. Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. Hum. Mol. Genet. 21, 1897e1906.

    Palmer, M.S., Dryden, A.J., Hughes, J.T., Collinge, J., 1991. Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 352, 340e342.

    Parchi, P., Giese, A., Capellari, S., Brown, P., Schulz-Schaeffer, W., Windl, O., Zerr, I., Budka, H., Kopp, N., Piccardo, P., Poser, S., Rojiani, A., Streichemberger, N., Julien, J., Vital, C., Ghetti, B., Gambetti, P., Kretzschmar, H., 1999. Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann. Neurol. 46, 224e233.

    Petrucci, S., Ginevrino, M., Valente, E.M., 2016. Phenotypic spectrum of alphasynuclein mutations: new insights from patients and cellular models. Parkinsonism Relat. Disord. 22, 18.

  • Similar Research Results (4)
  • Metrics
Share - Bookmark