New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism

被引:35
作者
Rawal, N
Periquet, M
Lohmann, E
Lücking, CB
Teive, HA
Ambrosio, G
Raskin, S
Lincoln, S
Hattori, N
Guimaraes, J
Horstink, MWIM
Bele, WD
Brousolle, E
Destée, A
Mizuno, Y
Farrer, M
Deleuze, JF
De Michele, G
Agid, Y
Dürr, A
Brice, A
机构
[1] Hop La Pitie Salpetriere, INSERM, U289, F-75013 Paris, France
[2] Hop La Pitie Salpetriere, Dept Genet, Paris, France
[3] Hop La Pitie Salpetriere, Federat Neurol, Paris, France
[4] Univ Munich, Klinikum Grosshadern, Neurol Klin, D-8000 Munich, Germany
[5] Hosp Clin, Dept Neurol, Curitiba, Parana, Brazil
[6] Univ Naples Federico II, Dipartimento Sci Neurol, Naples, Italy
[7] Genet Lab, Curitiba, Parana, Brazil
[8] Dept Neurosci, Neurogenet Lab, Jacksonville, FL USA
[9] Juntendo Univ, Sch Med, Dept Neurol, Tokyo 113, Japan
[10] Hosp Egas Moniz, Serv Neurol, Lisbon, Portugal
[11] UMC St Radboud, Nijmegen, Netherlands
[12] Aventis Pharma, Dept Biotechnol, Vitry Sur Seine, France
[13] CHRU Lille, Serv Neurol, Lille, France
[14] Hospices Civils Lyon, Serv Neurol, Lyon, France
关键词
D O I
10.1212/01.WNL.0000056167.89221.BE
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The frequency of parkin mutations was evaluated in 30 families of highly diverse geographic origin with early-onset autosomal recessive parkinsonism. Twelve different mutations, six of which were new, were found in 10 families from Europe and Brazil. Patients with parkin mutations had significantly longer disease duration than patients without the mutation but with similar severity of disease, suggesting a slower disease course. Two patients with parkin mutations had atypical clinical presentation at onset, with predominant tremor when standing.
引用
收藏
页码:1378 / 1381
页数:4
相关论文
共 10 条
[1]   Lewy bodies and parkinsonism in families with parkin mutations [J].
Farrer, M ;
Chan, P ;
Chen, R ;
Tan, L ;
Lincoln, S ;
Hernandez, D ;
Forno, L ;
Gwinn-Hardy, K ;
Petrucelli, L ;
Hussey, J ;
Singleton, A ;
Tanner, C ;
Hardy, J ;
Langston, JW .
ANNALS OF NEUROLOGY, 2001, 50 (03) :293-300
[2]   Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism [J].
Kitada, T ;
Asakawa, S ;
Hattori, N ;
Matsumine, H ;
Yamamura, Y ;
Minoshima, S ;
Yokochi, M ;
Mizuno, Y ;
Shimizu, N .
NATURE, 1998, 392 (6676) :605-608
[3]   Association between early-onset Parkinson's disease and mutations in the parkin gene [J].
Lücking, CB ;
Dürr, A ;
Bonifati, V ;
Vaughan, J ;
De Michele, G ;
Gasser, T ;
Harhangi, BS ;
Meco, G ;
Denèfle, P ;
Wood, NW ;
Agid, Y ;
Brice, A .
NEW ENGLAND JOURNAL OF MEDICINE, 2000, 342 (21) :1560-1567
[4]  
LUCKING CB, 2003, METHODS MOL MED NEUR
[5]   Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q [J].
Mori, H ;
Kondo, T ;
Yokochi, M ;
Matsumine, H ;
Nakagawa-Hattori, Y ;
Miyake, T ;
Suda, K ;
Mizuno, Y .
NEUROLOGY, 1998, 51 (03) :890-892
[6]   Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families [J].
Nichols, WC ;
Pankratz, N ;
Uniacke, SK ;
Pauciulo, MW ;
Halter, C ;
Rudolph, A ;
Conneally, PM ;
Foroud, T .
JOURNAL OF MEDICAL GENETICS, 2002, 39 (07) :489-492
[7]   Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase [J].
Shimura, H ;
Hattori, N ;
Kubo, S ;
Mizuno, Y ;
Asakawa, S ;
Minoshima, S ;
Shimizu, N ;
Iwai, K ;
Chiba, T ;
Tanaka, K ;
Suzuki, T .
NATURE GENETICS, 2000, 25 (03) :302-305
[8]   Ubiquitination of a new form of α-synuclein by parkin from human brain:: Implications for Parkinson's disease [J].
Shimura, H ;
Schlossmacher, MC ;
Hattori, N ;
Frosch, MP ;
Trockenbacher, A ;
Schneider, R ;
Mizuno, Y ;
Kosik, KS ;
Selkoe, DJ .
SCIENCE, 2001, 293 (5528) :263-269
[9]   Differential expression of the parkin gene in the human brain and peripheral leukocytes [J].
Sunada, Y ;
Saito, F ;
Matsumura, K ;
Shimizu, T .
NEUROSCIENCE LETTERS, 1998, 254 (03) :180-182
[10]   Complex relationship between parkin mutations and Parkinson disease [J].
West, A ;
Periquet, M ;
Lincoln, S ;
Lücking, CB ;
Nicholl, D ;
Bonifati, V ;
Rawal, N ;
Gasser, T ;
Lohmann, E ;
Deleuze, JF ;
Maraganore, D ;
Levey, A ;
Wood, N ;
Dürr, A ;
Hardy, J ;
Brice, A ;
Farrer, M .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 114 (05) :584-591