Dejerine-Sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22

详细信息    查看全文

• 作者：A. Ohnishi ; T. Yamamoto ; K. Izawa ; S. Yamamori ; K. Takahashi ; H. Mega and K. Jinnai
• 关键词：Key words Dejerine ; Sottas disease ; Point mutation ; De novo mutation ; Peripheral myelin protein 22 (PMP22) ; Onion ; bulb
• 刊名：Acta Neuropathologica
• 出版年：2000
• 出版时间：March 2000
• 年：2000
• 卷：99
• 期：3
• 页码：327-330
• 全文大小：428 KB
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Pathology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-0533

文摘

The Ser149Arg mutation of peripheral myelin protein 22 (PMP22) was found in a 19-year-old woman with a sporadic case of Dejerine-Sottas disease. The patient showed delayed motor development. She walked for the first time with support at the age of 2 years. Scoliosis developed at age 4 years. Her walking ability was best at age 11. Thereafter, she showed progressive muscle weakness and sensory disturbances in the distal extremities. At the age of 18 years, the use of a wheelchair became necessary. Motor and sensory nerve conduction studies showed absent motor and sensory responses on electrical stimulation of the limb nerves. A sural nerve biopsy specimen showed marked decreases in the numbers of both large and small myelinated fibers, abundant onion-bulb formation, and hypomyelination. Electron microscopic observation revealed the presence of demyelinated axons and myelin sheaths disproportionately thin relative to axon diameter. That this was a de novo mutation was established by parentage testing and PMP22 gene analysis of the parents. The mutation seems to be novel and dominant.