Brain Dopamine-Serotonin Vesicular Transport Disease and Its Treatment

被引：144

作者：

Rilstone, Jennifer J. ^{[1
,2
]}

Alkhater, Reem A. ^{[1
,3
]}

Minassian, Berge A. ^{[1
,2
,3
]}

机构：

[1] Univ Toronto, Inst Med Sci, Toronto, ON M5S 1A1, Canada

[2] Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 1X8, Canada

[3] Hosp Sick Children, Div Neurol, Dept Pediat, Toronto, ON M5G 1X8, Canada

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2013年 / 368卷 / 06期

基金：

加拿大健康研究院;

关键词：

ACID DECARBOXYLASE DEFICIENCY; MONOAMINE TRANSPORTER-2; SEQUENCE VARIANTS; GENE; PARKINSONISM; AMPHETAMINE; MUTATIONS; FEATURES; VMAT2; MICE;

D O I：

10.1056/NEJMoa1207281

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We describe a disease encompassing infantile-onset movement disorder (including severe parkinsonism and nonambulation), mood disturbance, autonomic instability, and developmental delay, and we describe evidence supporting its causation by a mutation in SLC18A2 (which encodes vesicular monoamine transporter 2 [VMAT2]). VMAT2 translocates dopamine and serotonin into synaptic vesicles and is essential for motor control, stable mood, and autonomic function. Treatment with levodopa was associated with worsening, whereas treatment with direct dopamine agonists was followed by immediate ambulation, near-complete correction of the movement disorder, and resumption of development.

引用

页码：543 / 550

页数：8

共 27 条

[1] Whole-Genome Sequencing for Optimized Patient Management [J].

Bainbridge, Matthew N. ;

Wiszniewski, Wojciech ;

Murdock, David R. ;

Friedman, Jennifer ;

Gonzaga-Jauregui, Claudia ;

Newsham, Irene ;

Reid, Jeffrey G. ;

Fink, John K. ;

Morgan, Margaret B. ;

Gingras, Marie-Claude ;

Muzny, Donna M. ;

Hoang, Linh D. ;

Yousaf, Shahed ;

Lupski, James R. ;

Gibbs, Richard A. .

SCIENCE TRANSLATIONAL MEDICINE, 2011, 3 (87)

[2]

Brun L, 2010, NEUROLOGY, V75, P576

[3] Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency [J].

Brun, L. ;

Ngu, L. H. ;

Keng, W. T. ;

Ch'ng, G. S. ;

Choy, Y. S. ;

Hwu, W. L. ;

Lee, W. T. ;

Willemsen, M. A. A. P. ;

Verbeek, M. M. ;

Wassenberg, T. ;

Regal, L. ;

Orcesi, S. ;

Tonduti, D. ;

Accorsi, P. ;

Testard, H. ;

Abdenur, J. E. ;

Tay, S. ;

Allen, G. F. ;

Heales, S. ;

Kern, I. ;

Kato, M. ;

Burlina, A. ;

Manegold, C. ;

Hoffmann, G. F. ;

Blau, N. .

NEUROLOGY, 2010, 75 (01) :64-71

[4] The effect of rare human sequence variants on the function of vesicular monoamine transporter 2 [J].

Burman, J ;

Tran, CH ;

Glatt, C ;

Freimer, NB ;

Edwards, RH .

PHARMACOGENETICS, 2004, 14 (09) :587-594

[5]

Dayhoff M O., 1978, Atlas of Protein Seq Struct, ppp 345

[6] The cat-1 gene of Caenorhabditis elegans encodes a vesicular monoamine transporter required for specific monoamine-dependent behaviors [J].

Duerr, JS ;

Frisby, DL ;

Gaskin, J ;

Duke, A ;

Asermely, K ;

Huddleston, D ;

Eiden, LE ;

Rand, JB .

JOURNAL OF NEUROSCIENCE, 1999, 19 (01) :72-84

[7] VMAT2: a dynamic regulator of brain monoaminergic neuronal function interacting with drugs of abuse [J].

Eiden, Lee E. ;

Weihe, Eberhard .

ADDICTION REVIEWS, 2011, 1216 :86-+

[8] FUNCTIONAL IDENTIFICATION AND MOLECULAR-CLONING OF A HUMAN BRAIN VESICLE MONOAMINE TRANSPORTER [J].

ERICKSON, JD ;

EIDEN, LE .

JOURNAL OF NEUROCHEMISTRY, 1993, 61 (06) :2314-2317

[9] Vesicular transport regulates monoamine storage and release but is not essential for amphetamine action [J].

Fon, EA ;

Pothos, EN ;

Sun, BC ;

Killeen, N ;

Sulzer, D ;

Edwards, RH .

NEURON, 1997, 19 (06) :1271-1283

[10] Vmat2 heterozygous mutant mice display a depressive-like phenotype [J].

Fukui, Masato ;

Rodriguiz, Ramona M. ;

Zhou, Jiechun ;

Jiang, Sara X. ;

Phillips, Lindsey E. ;

Caron, Marc G. ;

Wetsel, William C. .

JOURNAL OF NEUROSCIENCE, 2007, 27 (39) :10520-10529

← 1 2 3 →