The focal dystonias: Current views and challenges for future research

被引:163
|
作者
Jinnah, H. A. [1 ,2 ,3 ]
Berardelli, Alfredo [4 ,5 ]
Comella, Cynthia [6 ]
DeFazio, Giovanni [7 ]
DeLong, Mahlon R. [1 ,8 ]
Factor, Stewart [1 ,3 ,8 ]
Galpern, Wendy R. [9 ]
Hallett, Mark [10 ]
Ludlow, Christy L. [11 ]
Perlmutter, Joel S. [12 ,13 ,14 ,15 ,16 ]
Rosen, Ami R. [1 ]
机构
[1] Emory Univ, Dept Neurol, Atlanta, GA 30322 USA
[2] Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA
[3] Emory Univ, Dept Pediat, Atlanta, GA 30322 USA
[4] Univ Roma La Sapienza, Dept Neurol & Psychiat, I-00185 Rome, Italy
[5] Sci Inst Canc Res & Treatment IRCCS Neuromed Inst, Rome, Italy
[6] Rush Med Coll, Dept Neurol Sci, Chicago, IL 60612 USA
[7] Aldo Moro Univ Bari, Dept Basic Med Sci Neurosci & Sense Organs, Bari, Italy
[8] Emory Univ, Dept Psychiat, Atlanta, GA 30322 USA
[9] NINDS, NIH, Bethesda, MD 20892 USA
[10] NINDS, Human Motor Control Sect, NIH, Bethesda, MD 20892 USA
[11] James Madison Univ, Dept Commun Sci & Disorders, Harrisonburg, VA 22807 USA
[12] Washington Univ, Dept Neurol, St Louis, MO USA
[13] Washington Univ, Dept Radiol, St Louis, MO USA
[14] Washington Univ, Dept Neurobiol, St Louis, MO USA
[15] Washington Univ, Program Occupat Therapy, St Louis, MO USA
[16] Washington Univ, Program Phys Therapy, St Louis, MO USA
基金
美国国家卫生研究院;
关键词
focal dystonia; cervical dystonia; blepharospasm; spasmodic dysphonia; focal hand dystonia; DEEP-BRAIN-STIMULATION; BOTULINUM TOXIN TREATMENT; QUALITY-OF-LIFE; TONGUE PROTRUSION DYSTONIA; THAP1 SEQUENCE VARIANTS; GRAY-MATTER CHANGES; IN MOUSE MODEL; CERVICAL DYSTONIA; ADULT-ONSET; SPASMODIC DYSPHONIA;
D O I
10.1002/mds.25567
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The most common forms of dystonia are those that develop in adults and affect a relatively isolated region of the body. Although these adult-onset focal dystonias are most prevalent, knowledge of their etiologies and pathogenesis has lagged behind some of the rarer generalized dystonias, in which the identification of genetic defects has facilitated both basic and clinical research. This summary provides a brief review of the clinical manifestations of the adult-onset focal dystonias, focusing attention on less well understood clinical manifestations that need further study. It also provides a simple conceptual model for the similarities and differences among the different adult-onset focal dystonias as a rationale for lumping them together as a class of disorders while at the same time splitting them into subtypes. The concluding section outlines some of the most important research questions for the future. Answers to these questions are critical for advancing our understanding of this group of disorders and for developing novel therapeutics. (C) 2013 Movement Disorder Society
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页码:926 / 943
页数:18
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