Publication

Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases

Jezierska, J., Stevanin, G., Watanabe, H., Fokkens, M. R., Zagnoli, F., Kok, J., Goas, J-Y., Bertrand, P., Robin, C., Brice, A., Bakalkin, G., Durr, A. & Verbeek, D. S., Jul-2013, In : Journal of Neurology. 260, 7, p. 1807-1812 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

APA

Jezierska, J., Stevanin, G., Watanabe, H., Fokkens, M. R., Zagnoli, F., Kok, J., ... Verbeek, D. S. (2013). Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. Journal of Neurology, 260(7), 1807-1812. https://doi.org/10.1007/s00415-013-6882-6

Author

Jezierska, Justyna ; Stevanin, Giovanni ; Watanabe, Hiroyuki ; Fokkens, Michiel R. ; Zagnoli, Fabien ; Kok, Jerome ; Goas, Jean-Yves ; Bertrand, Pierre ; Robin, Christophe ; Brice, Alexis ; Bakalkin, Georgy ; Durr, Alexandra ; Verbeek, Dineke S. / Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. In: Journal of Neurology. 2013 ; Vol. 260, No. 7. pp. 1807-1812.

Harvard

Jezierska, J, Stevanin, G, Watanabe, H, Fokkens, MR, Zagnoli, F, Kok, J, Goas, J-Y, Bertrand, P, Robin, C, Brice, A, Bakalkin, G, Durr, A & Verbeek, DS 2013, 'Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases', Journal of Neurology, vol. 260, no. 7, pp. 1807-1812. https://doi.org/10.1007/s00415-013-6882-6

Standard

Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. / Jezierska, Justyna; Stevanin, Giovanni; Watanabe, Hiroyuki; Fokkens, Michiel R.; Zagnoli, Fabien; Kok, Jerome; Goas, Jean-Yves; Bertrand, Pierre; Robin, Christophe; Brice, Alexis; Bakalkin, Georgy; Durr, Alexandra; Verbeek, Dineke S.

In: Journal of Neurology, Vol. 260, No. 7, 07.2013, p. 1807-1812.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

Jezierska J, Stevanin G, Watanabe H, Fokkens MR, Zagnoli F, Kok J et al. Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. Journal of Neurology. 2013 Jul;260(7):1807-1812. https://doi.org/10.1007/s00415-013-6882-6


BibTeX

@article{7e1a2a2be42d4cff8b2bc0eb1a376095,
title = "Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases",
abstract = "We have recently identified missense mutations in prodynorphin (PDYN), the precursor to dynorphin opioid peptides, as the cause for spinocerebellar ataxia (SCA23) in Dutch ataxia cases. We report a screen of PDYN for mutations in 371 cerebellar ataxia cases, which had a positive family history; most are of French origin. Sequencing revealed three novel putative missense mutations and one heterozygous two-base pair deletion in four independent SCA patients. These variants were absent in 400 matched controls and are located in the highly conserved dynorphin domain. To resolve the pathogenicity of the heterozygous variants, we assessed the peptide production of the mutant PDYN proteins. Two missense mutations raised dynorphin peptide levels, the two-base pair deletion terminated dynorphin synthesis, and one missense mutation did not affect PDYN processing. Given the outcome of our functional analysis, we may have identified at least two novel PDYN mutations in a French and a Moroccan SCA patient. Our data corroborates recent work that also showed that PDYN mutations only account for a small percentage (similar to 0.1 {\%}) of European SCA cases.",
keywords = "Prodynorphin, Neurodegeneration, Spinocerebellar ataxia, SCA23, Mutational screening, PRODYNORPHIN, DYNORPHIN, BEHAVIOR, GENE",
author = "Justyna Jezierska and Giovanni Stevanin and Hiroyuki Watanabe and Fokkens, {Michiel R.} and Fabien Zagnoli and Jerome Kok and Jean-Yves Goas and Pierre Bertrand and Christophe Robin and Alexis Brice and Georgy Bakalkin and Alexandra Durr and Verbeek, {Dineke S.}",
year = "2013",
month = "7",
doi = "10.1007/s00415-013-6882-6",
language = "English",
volume = "260",
pages = "1807--1812",
journal = "Journal of Neurology",
issn = "0340-5354",
publisher = "SPRINGER HEIDELBERG",
number = "7",

}

RIS

TY - JOUR

T1 - Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases

AU - Jezierska, Justyna

AU - Stevanin, Giovanni

AU - Watanabe, Hiroyuki

AU - Fokkens, Michiel R.

AU - Zagnoli, Fabien

AU - Kok, Jerome

AU - Goas, Jean-Yves

AU - Bertrand, Pierre

AU - Robin, Christophe

AU - Brice, Alexis

AU - Bakalkin, Georgy

AU - Durr, Alexandra

AU - Verbeek, Dineke S.

PY - 2013/7

Y1 - 2013/7

N2 - We have recently identified missense mutations in prodynorphin (PDYN), the precursor to dynorphin opioid peptides, as the cause for spinocerebellar ataxia (SCA23) in Dutch ataxia cases. We report a screen of PDYN for mutations in 371 cerebellar ataxia cases, which had a positive family history; most are of French origin. Sequencing revealed three novel putative missense mutations and one heterozygous two-base pair deletion in four independent SCA patients. These variants were absent in 400 matched controls and are located in the highly conserved dynorphin domain. To resolve the pathogenicity of the heterozygous variants, we assessed the peptide production of the mutant PDYN proteins. Two missense mutations raised dynorphin peptide levels, the two-base pair deletion terminated dynorphin synthesis, and one missense mutation did not affect PDYN processing. Given the outcome of our functional analysis, we may have identified at least two novel PDYN mutations in a French and a Moroccan SCA patient. Our data corroborates recent work that also showed that PDYN mutations only account for a small percentage (similar to 0.1 %) of European SCA cases.

AB - We have recently identified missense mutations in prodynorphin (PDYN), the precursor to dynorphin opioid peptides, as the cause for spinocerebellar ataxia (SCA23) in Dutch ataxia cases. We report a screen of PDYN for mutations in 371 cerebellar ataxia cases, which had a positive family history; most are of French origin. Sequencing revealed three novel putative missense mutations and one heterozygous two-base pair deletion in four independent SCA patients. These variants were absent in 400 matched controls and are located in the highly conserved dynorphin domain. To resolve the pathogenicity of the heterozygous variants, we assessed the peptide production of the mutant PDYN proteins. Two missense mutations raised dynorphin peptide levels, the two-base pair deletion terminated dynorphin synthesis, and one missense mutation did not affect PDYN processing. Given the outcome of our functional analysis, we may have identified at least two novel PDYN mutations in a French and a Moroccan SCA patient. Our data corroborates recent work that also showed that PDYN mutations only account for a small percentage (similar to 0.1 %) of European SCA cases.

KW - Prodynorphin

KW - Neurodegeneration

KW - Spinocerebellar ataxia

KW - SCA23

KW - Mutational screening

KW - PRODYNORPHIN

KW - DYNORPHIN

KW - BEHAVIOR

KW - GENE

U2 - 10.1007/s00415-013-6882-6

DO - 10.1007/s00415-013-6882-6

M3 - Article

VL - 260

SP - 1807

EP - 1812

JO - Journal of Neurology

JF - Journal of Neurology

SN - 0340-5354

IS - 7

ER -

ID: 5910181