DSpace About DSpace Software 日本語
 

GINMU >
01 奈良県立医科大学 >
011 医学部 >
0112 紀要 >
01121 Journal of Nara Medical Association >
Vol.49 No.5 >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10564/473

Title: 遺伝性運動感覚性ニューロパチータイプⅠの臨床遺伝学的検討
Other Titles: CLINICAL AND GENETIC STUDIES IN PATIENTS WITH HEREDITARY MOTOR SENSORY NEUROPATHY TYPE Ⅰ
Authors: 村田, 加代子
Keywords: hereditary motor sensory neuropathy type Ⅰ(HMSN Ⅰ)
PMP-22 gene
duplication
P0 gene
motor conduction velocity (MCV)
Issue Date: 31-Oct-1998
Publisher: 奈良医学会
Citation: Journal of Nara Medical Association Vol.49 No.5 p.391-399
Abstract: We investigated 12 Japanese patients whose diagnosis was hereditary motor sensory neuropathy type Ⅰ (HMSN Ⅰ) from clinical and pathological findings. We compared the genetic findings with their clinical features, MRI findings of the nerve roots, nerve biopsy findings, electrophysiological studies, and magnetic stimulation studies. So far as we investigated, PMP-22 gene duplication was detected in one half of the patients while no genetic changes of PMP-22 or P0 were observed in the other. Enlargement of peripheral nerves and nerve roots was remarkable in patients without abnormalities of PMP-22 or P0, while some of them showed signs of radiculopathy or myelopathy. In patients with PMP-22 gene duplication, there was a significant correlation between the age at onset and MCV. This fact indicated that patients with younger onset and slower MCV had more severe symptoms. Though HMSN Ⅰ is thought to be heterogeneous, we could detect significant features between clinical and electrophysiological findings according to the analysis of PMP-22 duplication.
URI: http://hdl.handle.net/10564/473
ISSN: 13450069
Appears in Collections:Vol.49 No.5

Files in This Item:

File Description SizeFormat
391-399p.遺伝性運動感覚性ニューロパチータイプⅠの臨床遺伝学的検討3.pdf1.55 MBAdobe PDFView/Open

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

 

Valid XHTML 1.0! DSpace Software Copyright © 2002-2010  Duraspace - Feedback