Diagnostic Challenges Posed by Preceding Peripheral Neuropathy in Very Late-onset Spinocerebellar Ataxia Type 3
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- Sugiyama Atsuhiko
- Department of Neurology, Graduate School of Medicine, Chiba University, Japan
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- Sekiguchi Yukari
- Department of Neurology, Graduate School of Medicine, Chiba University, Japan
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- Beppu Minako
- Department of Neurology, Graduate School of Medicine, Chiba University, Japan Division of Clinical Genetics, Chiba University Hospital, Japan
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- Ishige Takayuki
- Division of Laboratory Medicine, Chiba University Hospital, Japan
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- Matsushita Kazuyuki
- Division of Laboratory Medicine, Chiba University Hospital, Japan
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- Kuwabara Satoshi
- Department of Neurology, Graduate School of Medicine, Chiba University, Japan
抄録
<p>Peripheral neuropathy is a common extracerebellar manifestation of spinocerebellar ataxia type 3 (SCA3). However, to date, only a few SCA3 case reports have described the development of neuropathy before the emergence of apparent cerebellar signs. We herein report a case of very late-onset SCA3 in which preceding peripheral neuropathy seemingly concealed cerebellar signs, with seven years lapsing from the onset to the diagnosis. Horizontal gaze-evoked nystagmus and brain magnetic resonance imaging (MRI) findings prompted genetic testing, which confirmed the diagnosis of SCA3. A careful follow-up of neurological findings, such as nystagmus, and brain MRI are imperative for such cases. </p>
収録刊行物
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- Internal Medicine
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Internal Medicine 58 (1), 119-122, 2019-01-01
一般社団法人 日本内科学会
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詳細情報
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- CRID
- 1390845713036484224
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- NII論文ID
- 130007542250
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- ISSN
- 13497235
- 09182918
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- PubMed
- 30146593
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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
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- PubMed
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