Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?

Katja Hedrich; Peter P. Pramstaller; Katrin Stübke; Anja Hiller; Kemal Kabakci; Sabine Purmann; Meike Kasten; Cesa Scaglione; Eberhard Schwinger; Jens Volkmann; Vladimir Kostic; Peter Vieregge; Paolo Martinelli; Giovanni Abbruzzese; Christine Klein; Christine Zühlke

doi:10.1002/mds.20512

Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?

Katja Hedrich, Peter P. Pramstaller, Katrin Stübke, Anja Hiller, Kemal Kabakci, Sabine Purmann, Meike Kasten, Cesa Scaglione, Eberhard Schwinger, Jens Volkmann, Vladimir Kostic, Peter Vieregge, Paolo Martinelli, Giovanni Abbruzzese, Christine Klein^*, Christine Zühlke

^*Corresponding author for this work

30 Citations (Scopus)

Abstract

Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation carriers (2 patients, 1 control). Of note, 1 of the affected premutation carriers had a heterozygous Parkin mutation.

Original language	English
Journal	Movement Disorders
Volume	20
Issue number	8
Pages (from-to)	1060-1062
Number of pages	3
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.20512
Publication status	Published - 01.08.2005

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1002/mds.20512

Cite this

Hedrich, K., Pramstaller, P. P., Stübke, K., Hiller, A., Kabakci, K., Purmann, S., Kasten, M., Scaglione, C., Schwinger, E., Volkmann, J., Kostic, V., Vieregge, P., Martinelli, P., Abbruzzese, G., Klein, C., & Zühlke, C. (2005). Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? Movement Disorders, 20(8), 1060-1062. https://doi.org/10.1002/mds.20512

@article{ce06ce01322244e4b5c46eacd1734196,

title = "Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?",

abstract = "Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation carriers (2 patients, 1 control). Of note, 1 of the affected premutation carriers had a heterozygous Parkin mutation.",

author = "Katja Hedrich and Pramstaller, \{Peter P.\} and Katrin St{\"u}bke and Anja Hiller and Kemal Kabakci and Sabine Purmann and Meike Kasten and Cesa Scaglione and Eberhard Schwinger and Jens Volkmann and Vladimir Kostic and Peter Vieregge and Paolo Martinelli and Giovanni Abbruzzese and Christine Klein and Christine Z{\"u}hlke",

year = "2005",

month = aug,

day = "1",

doi = "10.1002/mds.20512",

language = "English",

volume = "20",

pages = "1060--1062",

journal = "Movement Disorders",

issn = "0885-3185",

publisher = "John Wiley \& Sons Inc.",