A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion

被引：22

作者：

Dogu, O

Johnson, J

Hernandez, D

Hanson, M

Hardy, J

Apaydin, H

Özekmekçi, S

Sevim, S

Gwinn-Hardy, K

Singleton, A

机构：

[1] Mersin Univ, Fac Med, Dept Neurol, Movement Disorders Unit, TR-33070 Mersin, Turkey

[2] Istanbul Univ, Cerrahpasa Med Sch, Dept Neurol, Istanbul, Turkey

[3] NINDS, NIH, Bethesda, MD 20892 USA

[4] NIA, Neurogenet Lab, Bethesda, MD 20892 USA

来源：

MOVEMENT DISORDERS | 2004年 / 19卷 / 07期

关键词：

parkin; genetics; dystonia; depression;

D O I：

10.1002/mds.20028

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The importance of parkin in early-onset Parkinson's disease in Japan, Europe, and the United States is well established. The contribution of this gene to the risk of Parkinson's disease in other populations is less well known. To explore the importance of parkin in those of Turkish ancestry, we studied familial cases from that country, and identified a consanguineous family with early-onset Parkinson's disease due to a homozygous mutation in parkin. (C) 2004 Movement Disorder Society.

引用

页码：812 / 816

页数：5

共 22 条

[1] A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe [J].

Abbas, N ;

Lücking, CB ;

Ricard, S ;

Dürr, A ;

Bonifati, V ;

De Michele, G ;

Bouley, S ;

Vaughan, JR ;

Gasser, T ;

Marconi, R ;

Broussolle, E ;

Brefel-Courbon, C ;

Harhangi, BS ;

Oostra, AB ;

Fabrizio, E ;

Böhme, GA ;

Pradier, L ;

Wood, NW ;

Filla, A ;

Meco, G ;

Denefle, P ;

Agid, Y ;

Brice, A .

HUMAN MOLECULAR GENETICS, 1999, 8 (04) :567-574

[2]

*APPL BIOS CORP, 1997, US B APPL BIOS CORP, V2

[3]

Fahn S., RECENT DEV PARKINSON, V2, P153, DOI DOI 10.1002/ANA.410220556

[4] MINI-MENTAL STATE - PRACTICAL METHOD FOR GRADING COGNITIVE STATE OF PATIENTS FOR CLINICIAN [J].

FOLSTEIN, MF ;

FOLSTEIN, SE ;

MCHUGH, PR .

JOURNAL OF PSYCHIATRIC RESEARCH, 1975, 12 (03) :189-198

[5]

FUKUNISHI I, 1991, JPN J PSYCHIAT NEUR, V45, P7

[6] ACCURACY IN THE CLINICAL-DIAGNOSIS OF PARKINSONIAN SYNDROMES [J].

GIBB, WRG .

POSTGRADUATE MEDICAL JOURNAL, 1988, 64 (751) :345-351

[7] Point mutations (Thr240Arg and GIn311Stop) in the Parkin gene (vol 249, pg 754, 1998) [J].

Hattori, N ;

Matsumine, H ;

Asakawa, S ;

Kitada, T ;

Yoshino, H ;

Elibol, B ;

Brookes, AJ ;

Yamamura, Y ;

Kobayashi, T ;

Wang, M ;

Yoritaka, A ;

Minoshima, S ;

Shimizu, N ;

Mizuno, Y .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1998, 251 (02) :666-666

[8]

Hayashi S, 2000, MOVEMENT DISORD, V15, P884, DOI 10.1002/1531-8257(200009)15:5<884::AID-MDS1019>3.0.CO

[9]

2-8

[10] PARKINSONISM - ONSET PROGRESSION AND MORTALITY [J].

HOEHN, MM ;

YAHR, MD .

NEUROLOGY, 1967, 17 (05) :427-&

← 1 2 3 →