The prevalence of the G2019S and R1441C/G/H mutations in LRRK2 in German patients with Parkinson's disease

被引：20

作者：

Moeller, J. C. ^{[1
]}

Rissling, I. ^{[1
]}

Mylius, V. ^{[1
]}

Hoeft, C. ^{[1
]}

Eggert, K. M. ^{[1
]}

Oertel, W. H. ^{[1
]}

机构：

[1] Univ Marburg, Dept Neurol, Marburg, Germany

来源：

EUROPEAN JOURNAL OF NEUROLOGY | 2008年 / 15卷 / 07期

关键词：

age of onset; German; LRRK2; mutation; Parkinson's disease; prevalence;

D O I：

10.1111/j.1468-1331.2008.02154.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background and purpose: The prevalence of the heterozygous G2019S and R1441C/G/ H mutations in LRRK2 in patients with Parkinson's disease (PD) has shown a great variability depending on the sample population. Here we investigated the prevalence of these mutations in a large cohort of German PD patients (n = 1049). Results: We observed heterozygous G2019S mutations in five patients with apparently sporadic late-onset PD (LOPD; n = 3) and young-onset PD (YOPD) ( one sporadic and one familial), respectively, resulting in an overall prevalence of 0.5%. No R1441C/G/ H mutation was found in our sample. Discussion: In summary, the overall prevalence of the G2019S mutation in German PD patients is apparently somewhat lower than in patients from other nearby European countries. In contrast to previous reports, the G2019S mutation was also observed in apparently sporadic German LOPD patients.

引用

页码：743 / 745

页数：3

共 17 条

[11] Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): Report of the NINDS-SPSP International Workshop [J].

Litvan, I ;

Agid, Y ;

Calne, D ;

Campbell, G ;

Dubois, B ;

Duvoisin, RC ;

Goetz, CG ;

Golbe, LI ;

Grafman, J ;

Growdon, JH ;

Hallett, M ;

Jankovic, J ;

Quinn, NP ;

Tolosa, E ;

Zee, DS ;

Chase, TN ;

FitzGibbon, EJ ;

Hall, Z ;

Juncos, J ;

Nelson, KB ;

Oliver, E ;

Pramstaller, P ;

Reich, SG ;

Verny, M .

NEUROLOGY, 1996, 47 (01) :1-9

[12] Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease [J].

Nichols, WC ;

Pankratz, N ;

Hernandez, D ;

Paisán-Ruíz, C ;

Jain, S ;

Halter, CA ;

Michaels, VE ;

Reed, T ;

Rudolph, A ;

Shults, CW ;

Singleton, A ;

Foroud, T .

LANCET, 2005, 365 (9457) :410-412

[13] Lrrk2 R1441 substitution and progressive supranuclear palsy [J].

Ross, OA ;

Whittle, AJ ;

Cobb, SA ;

Hulihan, MM ;

Lincoln, SJ ;

Toft, M ;

Farrer, MJ ;

Dickson, DW .

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2006, 32 (01) :23-25

[14]

RUIZ CP, 2004, NEURON, V44, P595

[15] The LRRK2 gene in Parkinson's disease:: mutation screening in patients from Germany [J].

Schlitter, A. M. ;

Woitalla, D. ;

Mueller, T. ;

Epplen, J. T. ;

Dekomien, G. .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2006, 77 (07) :891-891

[16] The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients [J].

Tan, EK ;

Shen, H ;

Tan, LCS ;

Farrer, A ;

Yew, K ;

Chua, E ;

Jamora, RD ;

Puvan, K ;

Puong, KY ;

Zhao, Y ;

Pavanni, R ;

Wong, MC ;

Yih, Y ;

Skipper, L ;

Liu, JJ .

NEUROSCIENCE LETTERS, 2005, 384 (03) :327-329

[17] Mutations in LRRK2 cause autosomal-dominant Parkinsonism with pleomorphic pathology [J].

Zimprich, A ;

Biskup, S ;

Leitner, P ;

Lichtner, P ;

Farrer, M ;

Lincoln, S ;

Kachergus, J ;

Hulihan, M ;

Uitti, RJ ;

Calne, DB ;

Stoessl, AJ ;

Pfeiffer, RF ;

Patenge, N ;

Carbajal, IC ;

Vieregge, P ;

Asmus, F ;

Müller-Myhsok, B ;

Dickson, DW ;

Meitinger, T ;

Strom, TM ;

Wszolek, ZK ;

Gasser, T .

NEURON, 2004, 44 (04) :601-607

← 1 2 →