PARK9-linked parkinsonism in eastern Asia:: Mutation detection in ATP13A2 and clinical phenotype

被引：79

作者：

Ning, Y. P.

Kanai, K. ^{[3
]}

Tomiyama, H.

Li, Y.

Funayama, M. ^{[2
]}

Yoshino, H. ^{[2
]}

Sato, S.

Asahina, M. ^{[3
]}

Kuwabara, S. ^{[3
]}

Takeda, A. ^{[4
]}

Hattori, T. ^{[3
]}

Mizuno, Y. ^{[2
]}

Hattori, N. ^{[1
,2
]}

机构：

[1] Juntendo Univ, Sch Med, Dept Neurol, Bunkyo Ku, Tokyo 1138421, Japan

[2] Juntendo Univ, Sch Med, Res Inst Dis Old Ages, Tokyo 1138421, Japan

[3] Chiba Univ, Grad Sch Med, Dept Neurol, Chiba, Japan

[4] Tohoku Univ, Dept Neurol, Miyagi, Japan

来源：

NEUROLOGY | 2008年 / 70卷 / 16期

关键词：

D O I：

10.1212/01.wnl.0000310427.72236.68

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：1491 / 1493

页数：3

共 7 条

[1] ALDIN ASN, 1994, ACTA NEUROL SCAND, V89, P347
[2] ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
Di Fonzo, A.
Chien, H. F.
Socal, M.
Giraudo, S.
Tassorelli, C.
Iliceto, G.
Fabbrini, G.
Marconi, R.
Fincati, E.
Abbruzzese, G.
Marini, P.
Squitieri, F.
Horstink, M. W.
Montagna, P.
Dalla Libera, A.
Stocchi, F.
Goldwurm, S.
Ferreira, J. J.
Meco, G.
Martignoni, E.
Lopiano, L.
Jardim, L. B.
Oostra, B. A.
Barbosa, E. R.
Bonifati, V.
[J]. NEUROLOGY, 2007, 68 (19) : 1557 - 1562
[3] Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36
Hampshire, DJ
Roberts, E
Crow, Y
Bond, J
Mubaidin, A
Wriekat, AL
Al-Din, A
Woods, CG
[J]. JOURNAL OF MEDICAL GENETICS, 2001, 38 (10) : 680 - 682
[4] Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier
Kono, Satoshi
Shirakawa, Kentaro
Ouchi, Yasuomi
Sakamoto, Masanobu
Ida, Hiroyuki
Sugiura, Takeshi
Tomiyama, Hiroyuki
Suzuki, Hitoshi
Takahashi, Yoshitomo
Miyajima, Hiroaki
Hattori, Nobutaka
Mizuno, Yoshikuni
[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2007, 252 (02) : 181 - 184
[5] Lysosomal malfunction accompanies alpha-synuclein aggregation in a progressive mouse model of Parkinson's disease
Meredith, GE
Totterdell, S
Petroske, E
Cruz, KS
Callison, RC
Lau, YS
[J]. BRAIN RESEARCH, 2002, 956 (01) : 156 - 165
[6] Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
Ramirez, Alfredo
Heimbach, Andre
Gruendemann, Jan
Stiller, Barbara
Hampshire, Dan
Cid, L. Pablo
Goebel, Ingrid
Mubaidin, Ammar F.
Wriekat, Abdul-Latif
Roeper, Jochen
Al-Din, Amir
Hillmer, Axel M.
Karsak, Meliha
Liss, Birgit
Woods, C. Geoffrey
Behrens, Maria I.
Kubisch, Christian
[J]. NATURE GENETICS, 2006, 38 (10) : 1184 - 1191
[7] Kufor Rakeb disease: Autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia
Williams, DR
Hadeed, A
Al-Din, ASN
Wreikat, AL
Lees, AJ
[J]. MOVEMENT DISORDERS, 2005, 20 (10) : 1264 - 1271

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