DEJERINE-SOTTAS DISEASE WITH DE-NOVO DOMINANT POINT MUTATION OF THE PMP22 GENE

被引:51
作者
IONASESCU, VV [1 ]
IONASESCU, R [1 ]
SEARBY, C [1 ]
NEAHRING, R [1 ]
机构
[1] UNIV IOWA HOSP & CLIN,DEPT NEUROL,IOWA CITY,IA 52242
关键词
D O I
10.1212/WNL.45.9.1766
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We studied a 33-year-old woman with a negative family history. Both of her parents were examined clinically by nerve conduction velocities (NCVs) and EMG, with normal results. The clinical onset of her condition was at 24 months, with severe weakness and atrophy of her feet and hands, but the proximal muscles were relatively spared. She had bilateral pes cavus, distal weakness and hypesthesia for touch and proprioception, areflexia, claw hands, and severe thoracolumbar kyphoscoliosis. NCVs showed absent motor and sensory responses and EMG revealed diffuse fibrillation potentials. Molecular genetic studies indicated a de novo dominant missense point mutation of exon 3 of the peripheral myelin protein 22 gene at nucleotide 264 that caused the replacement of serine with leucine.
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页码:1766 / 1767
页数:2
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