Literature DB >> 9849799

Downbeat nystagmus in two siblings with spinocerebellar ataxia type 6 (SCA 6).

H Harada1, A Tamaoka, M Watanabe, K Ishikawa, S Shoji.   

Abstract

We report two siblings with spinocerebellar ataxia type 6 (SCA 6), both showing downbeat nystagmus (DBN) as a predominant clinical feature. Familial hemiplegic migraine (FHM), episodic ataxia type 2 (EA-2) and SCA 6 are allelic disorders, and interestingly, the occasional presence of DBN in EA-2 was reported. Our observations suggest that common molecular mechanisms might underlie DBN in FHM, EA-2 and SCA 6. Then, these disorders should be kept in mind in diagnosing patients with DBN.

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Year:  1998        PMID: 9849799     DOI: 10.1016/s0022-510x(98)00250-0

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


  4 in total

1.  Ocular Motor Findings Aid in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Disease.

Authors:  Sun-Uk Lee; Ji-Soo Kim; Dallah Yoo; Aryun Kim; Hyo-Jung Kim; Jeong-Yoon Choi; Ji-Yun Park; Seong-Hae Jeong; Jong-Min Kim; Kun-Woo Park
Journal:  Cerebellum       Date:  2022-01-07       Impact factor: 3.847

2.  Evolution of the vestibular function during head impulses in spinocerebellar ataxia type 6.

Authors:  Sun-Uk Lee; Ji-Soo Kim; Hyo-Jung Kim; Jeong-Yoon Choi; Ji-Yun Park; Jong-Min Kim; Xu Yang
Journal:  J Neurol       Date:  2020-02-17       Impact factor: 4.849

Review 3.  The cerebellum and migraine.

Authors:  Maurice Vincent; Nouchine Hadjikhani
Journal:  Headache       Date:  2007-06       Impact factor: 5.887

4.  A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6.

Authors:  Hiroki Takahashi; Kinya Ishikawa; Takeshi Tsutsumi; Hiroto Fujigasaki; Akihiro Kawata; Ryoichi Okiyama; Tsuneo Fujita; Kazuo Yoshizawa; Shigeki Yamaguchi; Hitoshi Tomiyasu; Fumihito Yoshii; Kazuko Mitani; Natsue Shimizu; Mineo Yamazaki; Tomoyuki Miyamoto; Tomoyuki Orimo; Shin'ichi Shoji; Ken Kitamura; Hidehiro Mizusawa
Journal:  J Hum Genet       Date:  2004       Impact factor: 3.172

  4 in total

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