ATP13A2 Mutations (PARK9) Cause Neurodegeneration with Brain Iron Accumulation

被引：135

作者：

Schneider, Susanne A. ^{[2
,3
]}

Paisan-Ruiz, Coro

Quinn, Niall P. ^{[2
]}

Lees, Andrew J. ^{[2
]}

Houlden, Henry

Hardy, John ^{[1
]}

Bhatia, Kailash P. ^{[2
]}

机构：

[1] UCL Inst Neurol, Dept Mol Neurosci, Reta Lila Weston Labs, London WC1N 3BG, England

[2] UCL Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England

[3] Univ Lubeck, Dept Neurol, Schilling Sect Clin & Mol Neurogenet, Lubeck, Germany

来源：

MOVEMENT DISORDERS | 2010年 / 25卷 / 08期

基金：

英国医学研究理事会;

关键词：

PARK9; ATP13A2; Kufor Rakeb; dystonia parkinsonism; brain iron; NBIA; iron deposition; neurodegeneration with brain iron accumulation; Parkinson genetics; PALLIDO-PYRAMIDAL DEGENERATION; SUPRANUCLEAR UPGAZE PARESIS; HALLERVORDEN-SPATZ-SYNDROME; KUFOR-RAKEB-SYNDROME; JUVENILE PARKINSONISM; DYSTONIA-PARKINSONISM; DEMENTIA; DISEASE; PLA2G6; MRI;

D O I：

10.1002/mds.22947

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Kufor Rakeb disease (KRD, PARK9) is an autosomal recessive extrapyramidal-pyramidal syndrome with generalized brain atrophy due to ATP13A2 gene mutations. We report clinical details and investigational results focusing on radiological findings of a genetically-proven KRD case. Clinically, there was early onset levodopa-responsive dystonia-parkinsonism with pyramidal signs and eye movement abnormalities. Brain MRI revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. Our findings add KRD to the group of syndromes of neurodegeneration with brain iron accumulation (NBIA). KRD should be considered in patients with dystonia-parkinsonism with iron on brain imaging and we suggest classifying as NBIA type 3. (C) 2010 Movement Disorder Society

引用

页码：979 / 984

页数：6

共 23 条

[1]

ALDIN ASN, 1994, ACTA NEUROL SCAND, V89, P347

[2] Manganese-induced parkinsonism associated with methcathinone (ephedrone) abuse [J].

de Bie, Rob M. A. ;

Gladstone, Richard M. ;

Strafella, Antonio P. ;

Ko, Ji-Hyun ;

Lang, Anthony E. .

ARCHIVES OF NEUROLOGY, 2007, 64 (06) :886-889

[3] ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease [J].

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. .

NEUROLOGY, 2007, 68 (19) :1557-1562

[4] α-Synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity [J].

Gitler, Aaron D. ;

Chesi, Alessandra ;

Geddie, Melissa L. ;

Strathearn, Katherine E. ;

Hamamichi, Shusei ;

Hill, Kathryn J. ;

Caldwell, Kim A. ;

Caldwell, Guy A. ;

Cooper, Antony A. ;

Rochet, Jean-Christophe ;

Lindquist, Susan .

NATURE GENETICS, 2009, 41 (03) :308-315

[5] Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36 [J].

Hampshire, DJ ;

Roberts, E ;

Crow, Y ;

Bond, J ;

Mubaidin, A ;

Wriekat, AL ;

Al-Din, A ;

Woods, CG .

JOURNAL OF MEDICAL GENETICS, 2001, 38 (10) :680-682

[6] Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. [J].

Hayflick, SJ ;

Westaway, SK ;

Levinson, B ;

Zhou, B ;

Johnson, MA ;

Ching, KHL ;

Gitschier, J .

NEW ENGLAND JOURNAL OF MEDICINE, 2003, 348 (01) :33-40

[7] Clinical heterogeneity of ATP13A2 linked disease (Kufor-Rakeb) justifies a PARK designation [J].

Lees, Andrew J. ;

Singleton, Andrew B. .

NEUROLOGY, 2007, 68 (19) :1553-1554

[8] Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore [J].

Lin, C. H. ;

Tan, E. K. ;

Chen, M. L. ;

Tan, L. C. ;

Lim, H. Q. ;

Chen, G. S. ;

Wu, R. M. .

NEUROLOGY, 2008, 71 (21) :1727-1732

[9] T2*and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation [J].

McNeill, A. ;

Birchall, D. ;

Hayflick, S. J. ;

Gregory, A. ;

Schenk, J. F. ;

Zimmerman, E. A. ;

Shang, H. ;

Miyajima, H. ;

Chinnery, P. F. .

NEUROLOGY, 2008, 70 (18) :1614-1619

[10] PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron [J].

Morgan, Neil V. ;

Westaway, Shawn K. ;

Morton, Jenny E. V. ;

Gregory, Allison ;

Gissen, Paul ;

Sonek, Scott ;

Cangul, Hakan ;

Coryell, Jason ;

Canham, Natalie ;

Nardocci, Nardo ;

Zorzi, Giovanna ;

Pasha, Shanaz ;

Rodriguez, Diana ;

Desguerre, Isabelle ;

Mubaidin, Amar ;

Bertini, Enrico ;

Trembath, Richard C. ;

Simonati, Alessandro ;

Schanen, Carolyn ;

Johnson, Colin A. ;

Levinson, Barbara ;

Woods, C. Geoffrey ;

Wilmot, Beth ;

Kramer, Patricia ;

Gitschier, Jane ;

Maher, Eamonn R. ;

Hayflick, Susan J. .

NATURE GENETICS, 2006, 38 (07) :752-754

← 1 2 3 →