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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
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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
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