脊髓小脑共济失调31型中向下注视性眼球震颤的罕见频率。

Rare frequency of downbeat positioning nystagmus in spinocerebellar ataxia type 31.

作者信息

Yabe Ichiro, Matsushima Masaaki, Yoshida Kunihiro, Ishikawa Kinya, Shirai Shinichi, Takahashi Ikuko, Sasaki Hidenao

机构信息

Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.

出版信息

J Neurol Sci. 2015 Mar 15;350(1-2):90-2. doi: 10.1016/j.jns.2014.12.042. Epub 2015 Jan 5.

DOI:10.1016/j.jns.2014.12.042

PMID:25684342

Abstract

Spinocerebellar ataxia type 31 (SCA31) and spinocerebellar ataxia type 6 (SCA6) are the most frequent types of spinocerebellar degeneration in Japan. Previous reports described that it was difficult to distinguish SCA6 and SCA31 in clinical situations. There is not much difference except that the onset age of SCA31 is slightly higher than that of SCA6. Therefore we surveyed our medical records retrospectively, and then compared clinical symptoms of SCA6 and SCA31. As previously stated, the onset age of SCA31 is higher than that of SCA6. Gaze-evoked nystagmus is more frequent in SCA6 than in SCA31. The percentage in downbeat positioning nystagmus (DPN) is as high as 63% in SCA6. In contrast, DPN in SCA31 is rare and subtle. Our study suggests that the presence of DPN is an important sign that can differentiate SCA6 from SCA31 clinically.

摘要

脊髓小脑共济失调31型（SCA31）和脊髓小脑共济失调6型（SCA6）是日本最常见的脊髓小脑变性类型。既往报道称，在临床情况下难以区分SCA6和SCA31。除了SCA31的发病年龄略高于SCA6外，两者没有太大差异。因此，我们回顾性地查阅了我们的病历，然后比较了SCA6和SCA31的临床症状。如前所述，SCA31的发病年龄高于SCA6。SCA6中凝视诱发性眼球震颤比SCA31更常见。SCA6中向下跳动性定位眼球震颤（DPN）的比例高达63%。相比之下，SCA31中的DPN很少见且不明显。我们的研究表明，DPN的存在是临床上区分SCA6和SCA31的一个重要体征。