Atypical Rigid Form of Huntington′s Disease:A Case with Peripheral Amyotrophy and Congenital Defects of a Lower Limb
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- KANZATO Naomi
- The Department of Neurology, National Okinawa Hospital
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- SAITO Mineki
- The Third Department of Internal Medicine, Kagoshima University
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- HORIKIRI Takashi
- The Third Department of Internal Medicine, Kagoshima University
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- KOMINE Yukihiro
- The Third Department of Internal Medicine, Ryukyus University
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- NAKAGAWA Masanori
- The Third Department of Internal Medicine, Kagoshima University
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- MATSUZAKI Toshio
- The Third Department of Internal Medicine, Kagoshima University
書誌事項
- タイトル別名
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- Atypical Rigid Form of Huntington's Disease: A Case with Peripheral Amyotrophy and Congenital Defects of a Lower Limb.
- Atypical Rigid Form of Huntington s Dis
この論文をさがす
抄録
We describe a patient showing an atypical phenotype of Huntington's disease (HD), including prominent generalized dystonia, peripheral amyotrophy of the legs with an inverted champagne bottle configuration and pes equinus. The patient also had congenital defects of the lower left leg. Chorea and psychiatric symptoms were not prominent. Polymerase chain reaction assessment revealed 51 CAG repeats in gene IT 15. Magnetic resonance imaging of the brain demonstrated mild atrophy of the pons and cerebellum, and hyperintensity of the transverse pontine fibers and neostriatum on spin-echo images. Peripheral amyotrophy in this case might have resulted from axonal degeneration related to neuronal damage in the central nervous system, although at the present time we cannot confirm it as a new HD phenotype.<br>(Internal Medicine 37: 978-981, 1998)
収録刊行物
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- Internal Medicine
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Internal Medicine 37 (11), 978-981, 1998
一般社団法人 日本内科学会
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詳細情報 詳細情報について
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- CRID
- 1390282679845800192
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- NII論文ID
- 10007605940
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- NII書誌ID
- AA10827774
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- COI
- 1:STN:280:DyaK1M%2FosVeisg%3D%3D
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- ISSN
- 13497235
- 09182918
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- NDL書誌ID
- 4614201
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- PubMed
- 9868965
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- NDL
- Crossref
- PubMed
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可