Role of parkin mutations in 111 community-based patients with early-onset parkinsonism

Martin Kann; Helfried Jacobs; Kathrin Mohrmann; Kirsten Schumacher; Katja Hedrich; Jennifer Garrels; Karin Wiegers; Eberhard Schwinger; Peter P. Pramstaller; Xandra O. Breakefield; Laurie J. Ozelius; Peter Vieregge; Christine Klein

doi:10.1002/ana.10179

Role of parkin mutations in 111 community-based patients with early-onset parkinsonism

Martin Kann, Helfried Jacobs, Kathrin Mohrmann, Kirsten Schumacher, Katja Hedrich, Jennifer Garrels, Karin Wiegers, Eberhard Schwinger, Peter P. Pramstaller, Xandra O. Breakefield, Laurie J. Ozelius, Peter Vieregge, Christine Klein^*

^*Corresponding author for this work

Institute of Neurogenetics

124 Citations (Scopus)

Abstract

Early-onset parkinsonism is frequently reported in connection with mutations in the parkin gene. In this study, we present the results of extensive genetic screening for parkin mutations in 111 community-derived early-onset parkinsonism patients (age of onset <50 years) from Germany with an overall mutation rate of 9.0%. Gene dosage alterations represented 67% of the mutations found, underlining the importance of quantitative analyses of parkin. In summary, parkin mutations accounted for a low but significant percentage of early-onset parkinsonism patients in a community-derived sample.

Original language	English
Journal	Annals of Neurology
Volume	51
Issue number	5
Pages (from-to)	621-625
Number of pages	5
ISSN	0364-5134
DOIs	https://doi.org/10.1002/ana.10179
Publication status	Published - 06.05.2002

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@article{38ff09a3efca46428cf37caf8433ebd8,

title = "Role of parkin mutations in 111 community-based patients with early-onset parkinsonism",

abstract = "Early-onset parkinsonism is frequently reported in connection with mutations in the parkin gene. In this study, we present the results of extensive genetic screening for parkin mutations in 111 community-derived early-onset parkinsonism patients (age of onset <50 years) from Germany with an overall mutation rate of 9.0\%. Gene dosage alterations represented 67\% of the mutations found, underlining the importance of quantitative analyses of parkin. In summary, parkin mutations accounted for a low but significant percentage of early-onset parkinsonism patients in a community-derived sample.",

author = "Martin Kann and Helfried Jacobs and Kathrin Mohrmann and Kirsten Schumacher and Katja Hedrich and Jennifer Garrels and Karin Wiegers and Eberhard Schwinger and Pramstaller, \{Peter P.\} and Breakefield, \{Xandra O.\} and Ozelius, \{Laurie J.\} and Peter Vieregge and Christine Klein",

year = "2002",

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doi = "10.1002/ana.10179",

language = "English",

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TY - JOUR

T1 - Role of parkin mutations in 111 community-based patients with early-onset parkinsonism

AU - Kann, Martin

AU - Jacobs, Helfried

AU - Mohrmann, Kathrin

AU - Schumacher, Kirsten

AU - Hedrich, Katja

AU - Garrels, Jennifer

AU - Wiegers, Karin

AU - Schwinger, Eberhard

AU - Pramstaller, Peter P.

AU - Breakefield, Xandra O.

AU - Ozelius, Laurie J.

AU - Vieregge, Peter

AU - Klein, Christine

PY - 2002/5/6

Y1 - 2002/5/6

N2 - Early-onset parkinsonism is frequently reported in connection with mutations in the parkin gene. In this study, we present the results of extensive genetic screening for parkin mutations in 111 community-derived early-onset parkinsonism patients (age of onset <50 years) from Germany with an overall mutation rate of 9.0%. Gene dosage alterations represented 67% of the mutations found, underlining the importance of quantitative analyses of parkin. In summary, parkin mutations accounted for a low but significant percentage of early-onset parkinsonism patients in a community-derived sample.

AB - Early-onset parkinsonism is frequently reported in connection with mutations in the parkin gene. In this study, we present the results of extensive genetic screening for parkin mutations in 111 community-derived early-onset parkinsonism patients (age of onset <50 years) from Germany with an overall mutation rate of 9.0%. Gene dosage alterations represented 67% of the mutations found, underlining the importance of quantitative analyses of parkin. In summary, parkin mutations accounted for a low but significant percentage of early-onset parkinsonism patients in a community-derived sample.

UR - https://www.scopus.com/pages/publications/0036229267

U2 - 10.1002/ana.10179

DO - 10.1002/ana.10179

M3 - Journal articles

C2 - 12112109

AN - SCOPUS:0036229267

SN - 0364-5134

VL - 51

SP - 621

EP - 625

JO - Annals of Neurology

JF - Annals of Neurology

IS - 5

ER -

Role of parkin mutations in 111 community-based patients with early-onset parkinsonism

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