Spinal Muscular Atrophy: An Update

被引：2

作者：

Chang, Tracy ^{[1
]}

Gieron-Korthals, Maria ^{[2
]}

机构：

[1] Univ S Florida, Dept Pediat, Tampa, FL 33606 USA

[2] Univ S Florida, Dept Pediat Neurol, Tampa, FL 33606 USA

来源：

FETAL AND PEDIATRIC PATHOLOGY | 2011年 / 30卷 / 02期

关键词：

spinal muscular atrophy; floppy baby; hypotonia; treatment; SMN PROTEIN; MOUSE MODEL; EXPRESSION; SEVERITY; DELIVERY; LESSENS;

D O I：

10.3109/15513815.2010.524692

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Spinal muscular atrophy (SMA) is the most common childhood neurodegenerative disease. We report an infant with SMA type 1 and discuss the recent developments in SMA genetics, pathophysiology, and possible treatment options. Because SMA type 1 remains a fatal illness for which there is not yet a cure, the focus of patient care continues to be symptomatic. Thus, the most appropriate aspects of care at present and future are also discussed.

引用

收藏

页码：130 / 136

页数：7

相关论文

共 15 条

[1] Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector [J].

Baughan, Travis ;

Shababi, Monir ;

Coady, Tristan H. ;

Dickson, Alexa M. ;

Tullis, Gregory E. ;

Lorson, Christian L. .

MOLECULAR THERAPY, 2006, 14 (01) :54-62

[2] Early laparoscopic fundoplication and gastrostomy in infants with spinal muscular atrophy type I [J].

Durkin, Emily T. ;

Schroth, Mary K. ;

Helin, Margaret ;

Shaaban, Aimen F. .

JOURNAL OF PEDIATRIC SURGERY, 2008, 43 (11) :2031-2037

[3] LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate [J].

Garbes, Lutz ;

Riessland, Markus ;

Hoelker, Irmgard ;

Heller, Raoul ;

Hauke, Jan ;

Traenkle, Christian ;

Coras, Roland ;

Bluemcke, Ingmar ;

Hahnen, Eric ;

Wirth, Brunhilde .

HUMAN MOLECULAR GENETICS, 2009, 18 (19) :3645-3658

[4]

HERRERASOTO J, EMEDICINE

[5] Molecular functions of the SMN complex [J].

Kolb, Stephen J. ;

Battle, Daniel J. ;

Dreyfuss, Gideon .

JOURNAL OF CHILD NEUROLOGY, 2007, 22 (08) :990-994

[6] Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model [J].

Mattis, Virginia B. ;

Ebert, Allison D. ;

Fosso, Marina Y. ;

Chang, Cheng-Wei ;

Lorson, Christian L. .

HUMAN MOLECULAR GENETICS, 2009, 18 (20) :3906-3913

[7] Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature [J].

Menke, Leonie A. ;

Poll-The, Bwee Tien ;

Clur, Sally-Ann ;

Bilardo, Catia M. ;

van der Wal, Allard C. ;

Lenunink, Henny H. ;

Cobben, Jan Maarten .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (06) :740-744

[8] PHENOTYPIC HETEROGENEITY OF SPINAL MUSCULAR-ATROPHY MAPPING TO CHROMOSOME-5Q11.2-13.3 (SMA-5Q) [J].

MUNSAT, TL ;

SKERRY, L ;

KORF, B ;

POBER, B ;

SCHAPIRA, Y ;

GASCON, GG ;

ALRAJEH, SM ;

DUBOWITZ, V ;

DAVIES, K ;

BRZUSTOWICZ, LM ;

PENCHASZADEH, GK ;

GILLIAM, TC .

NEUROLOGY, 1990, 40 (12) :1831-1836

[9] Congenital hypotonia: Is there an algorithm? [J].

Paro-Panjan, D ;

Neubauer, D .

JOURNAL OF CHILD NEUROLOGY, 2004, 19 (06) :439-442

[10] Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy [J].

Rose, Ferrill F., Jr. ;

Mattis, Virginia B. ;

Rindt, Hansjoerg ;

Lorson, Christian L. .

HUMAN MOLECULAR GENETICS, 2009, 18 (06) :997-1005