Recurrent LRRK2 (park8) mutations in early-onset Parkinson's disease

Katja Hedrich; Susen Winkler; Johann Hagenah; Kemal Kabakci; Meike Kasten; Eberhard Schwinger; Jens Volkmann; Peter P. Pramstaller; Vladimir Kostic; Peter Vieregge; Christine Klein

doi:10.1002/mds.20990

Recurrent LRRK2 (park8) mutations in early-onset Parkinson's disease

Katja Hedrich, Susen Winkler, Johann Hagenah, Kemal Kabakci, Meike Kasten, Eberhard Schwinger, Jens Volkmann, Peter P. Pramstaller, Vladimir Kostic, Peter Vieregge, Christine Klein^*

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

39 Zitate (Scopus)

Abstract

Mutations in LRRK2 (leucine-rich repeat kinase 2) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3′ exons of the gene. The majority of mutations have been detected in late-onset cases (age at onset >50 years). We screened 5 of the 51 exons of LRRK2 that previously have been reported to harbor mutations in 98 early-onset and 42 late-onset PD patients. We identified two mutations (c.4321C>T, c.6055G>A) in three early-onset patients. Screening of an additional 220 early-onset PD patients for these mutations revealed another mutation carrier. In conclusion, LRRK2 mutations need to be considered also in early-onset PD.

Originalsprache	Englisch
Zeitschrift	Movement Disorders
Jahrgang	21
Ausgabenummer	9
Seiten (von - bis)	1506-1510
Seitenumfang	5
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.20990
Publikationsstatus	Veröffentlicht - 01.09.2006

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10.1002/mds.20990

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title = "Recurrent LRRK2 (park8) mutations in early-onset Parkinson's disease",

abstract = "Mutations in LRRK2 (leucine-rich repeat kinase 2) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3′ exons of the gene. The majority of mutations have been detected in late-onset cases (age at onset >50 years). We screened 5 of the 51 exons of LRRK2 that previously have been reported to harbor mutations in 98 early-onset and 42 late-onset PD patients. We identified two mutations (c.4321C>T, c.6055G>A) in three early-onset patients. Screening of an additional 220 early-onset PD patients for these mutations revealed another mutation carrier. In conclusion, LRRK2 mutations need to be considered also in early-onset PD.",

author = "Katja Hedrich and Susen Winkler and Johann Hagenah and Kemal Kabakci and Meike Kasten and Eberhard Schwinger and Jens Volkmann and Pramstaller, {Peter P.} and Vladimir Kostic and Peter Vieregge and Christine Klein",

year = "2006",

month = sep,

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doi = "10.1002/mds.20990",

language = "English",

volume = "21",

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journal = "Movement Disorders",

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TY - JOUR

T1 - Recurrent LRRK2 (park8) mutations in early-onset Parkinson's disease

AU - Hedrich, Katja

AU - Winkler, Susen

AU - Hagenah, Johann

AU - Kabakci, Kemal

AU - Kasten, Meike

AU - Schwinger, Eberhard

AU - Volkmann, Jens

AU - Pramstaller, Peter P.

AU - Kostic, Vladimir

AU - Vieregge, Peter

AU - Klein, Christine

PY - 2006/9/1

Y1 - 2006/9/1

N2 - Mutations in LRRK2 (leucine-rich repeat kinase 2) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3′ exons of the gene. The majority of mutations have been detected in late-onset cases (age at onset >50 years). We screened 5 of the 51 exons of LRRK2 that previously have been reported to harbor mutations in 98 early-onset and 42 late-onset PD patients. We identified two mutations (c.4321C>T, c.6055G>A) in three early-onset patients. Screening of an additional 220 early-onset PD patients for these mutations revealed another mutation carrier. In conclusion, LRRK2 mutations need to be considered also in early-onset PD.

AB - Mutations in LRRK2 (leucine-rich repeat kinase 2) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3′ exons of the gene. The majority of mutations have been detected in late-onset cases (age at onset >50 years). We screened 5 of the 51 exons of LRRK2 that previously have been reported to harbor mutations in 98 early-onset and 42 late-onset PD patients. We identified two mutations (c.4321C>T, c.6055G>A) in three early-onset patients. Screening of an additional 220 early-onset PD patients for these mutations revealed another mutation carrier. In conclusion, LRRK2 mutations need to be considered also in early-onset PD.

UR - http://www.scopus.com/inward/record.url?scp=33750305328&partnerID=8YFLogxK

U2 - 10.1002/mds.20990

DO - 10.1002/mds.20990

M3 - Journal articles

C2 - 16758483

AN - SCOPUS:33750305328

SN - 0885-3185

VL - 21

SP - 1506

EP - 1510

JO - Movement Disorders

JF - Movement Disorders

IS - 9

ER -

Recurrent LRRK2 (park8) mutations in early-onset Parkinson's disease

Abstract

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