DIGITAL NECROSES AND VASCULAR THROMBOSIS IN SEVERE SPINAL MUSCULAR ATROPHY

被引：77

作者：

Rudnik-Schoeneborn, Sabine ^{[1
]}

Vogelgesang, Silke ^{[2
]}

Armbrust, Sven ^{[3
]}

Graul-Neumann, Luitgard ^{[4
]}

Fusch, Christoph ^{[5
]}

Zerres, Klaus ^{[1
]}

机构：

[1] Rhein Westfal TH Aachen, Fac Med, Inst Human Genet, D-52074 Aachen, Germany

[2] Ernst Moritz Arndt Univ Greifswald, Dept Neuropathol, Greifswald, Germany

[3] Univ Hosp Schleswig Holstein, Dept Pediat Cardiol, Kiel, Germany

[4] Charite Campus Virchow, Inst Human Genet, Berlin, Germany

[5] Ernst Moritz Arndt Univ Greifswald, Childrens Hosp, Greifswald, Germany

来源：

MUSCLE & NERVE | 2010年 / 42卷 / 01期

关键词：

SMN1; deletion; SMN2; copynumber; skin necrosis; spinal muscular atrophy; vasculopathy; SMN; DELETION; DISEASE; LEADS; VEGF;

D O I：

10.1002/mus.21654

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Infantile spinal muscular atrophy (SMA) caused by homozygous SMN1 gene deletions/mutations is characterized by neuronal loss and axonopathy of motor neurons. We report two unrelated patients with severe SMA type I who had only one SMN2 copy and developed ulcerations and necroses of the fingers and toes. Sural nerve biopsy was normal in patient 1, whose affected skin displayed necroses and thrombotic occlusions of small vessels. Corresponding to a mouse model and other patients with similar findings, we believe that severe survival motor neuron (SMN) deficiency may present as vasculopathy. Muscle Nerve 42: 144-147, 2010

引用

页码：144 / 147

页数：4

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