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

^*Korrespondierende/r Autor/-in für diese Arbeit

30 Zitate (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.

Originalsprache	Englisch
Zeitschrift	Movement Disorders
Jahrgang	20
Ausgabenummer	8
Seiten (von - bis)	1060-1062
Seitenumfang	3
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.20512
Publikationsstatus	Veröffentlicht - 01.08.2005

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gesundheit und Wohlergehen
SDG 10 – Weniger Ungleichheiten

Dokumente

10.1002/mds.20512

Weitere Links

Link to publication in Scopus

Zitieren

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.",