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Literature DB >> 28490766

SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia.

Mari Kimura¹, Ichiro Yabe¹, Yuka Hama¹, Katsuki Eguchi^1,2, Shigehisa Ura³, Kazufumi Tsuzaka², Shoji Tsuji⁴, Hidenao Sasaki¹.

Abstract

Spinocerebellar ataxia (SCA) is a group of dominantly inherited heterogeneous disorders in which 43 subtypes have been identified to date. Recently, Japanese and French families with SCA type 42 (SCA42) were found to have a missense mutation (c.5144G>A; R1715H) in CACNA1G. We performed genetic analysis of 84 unrelated families to find the prevalence of SCA42 in Japan. Two families were found to have the previously reported missense mutation. Clinical presentations of the affected members of these families were similar to those of the previously reported French and Japanese families. Our study demonstrates that SCA42 exists in small numbers in Japan, and further supports the idea that SCA42 is a slowly progressive, pure cerebellar ataxia.

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2017 PMID： 28490766 DOI： 10.1038/jhg.2017.51

Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172

5 in total

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

Authors: Ichiro Yabe; Masaaki Matsushima; Kunihiro Yoshida; Kinya Ishikawa; Shinichi Shirai; Ikuko Takahashi; Hidenao Sasaki
Journal: J Neurol Sci Date: 2015-01-05 Impact factor: 3.181

2. Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12.

Authors: Kazunori Sato; Ichiro Yabe; Yoko Fukuda; Hiroyuki Soma; Yasuo Nakahara; Shoji Tsuji; Hidenao Sasaki
Journal: Arch Neurol Date: 2010-10

3. Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families.

Authors: Rehana Basri; Ichiro Yabe; Hiroyuki Soma; Hidenao Sasaki
Journal: J Hum Genet Date: 2007-09-05 Impact factor: 3.172

4. A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.

Authors: Marie Coutelier; Iulia Blesneac; Arnaud Monteil; Marie-Lorraine Monin; Kunie Ando; Emeline Mundwiller; Alfredo Brusco; Isabelle Le Ber; Mathieu Anheim; Anna Castrioto; Charles Duyckaerts; Alexis Brice; Alexandra Durr; Philippe Lory; Giovanni Stevanin
Journal: Am J Hum Genet Date: 2015-10-08 Impact factor: 11.025

5. A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.

Authors: Hiroyuki Morino; Yukiko Matsuda; Keiko Muguruma; Ryosuke Miyamoto; Ryosuke Ohsawa; Toshiyuki Ohtake; Reiko Otobe; Masahiko Watanabe; Hirofumi Maruyama; Kouichi Hashimoto; Hideshi Kawakami
Journal: Mol Brain Date: 2015-12-29 Impact factor: 4.041

5 in total

12 in total

1. Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia.

Authors: Yui Tada; Kodai Kume; Yukiko Matsuda; Takashi Kurashige; Yuhei Kanaya; Ryosuke Ohsawa; Hiroyuki Morino; Hayato Tabu; Satoshi Kaneko; Toshihiko Suenaga; Akira Kakizuka; Hideshi Kawakami
Journal: J Hum Genet Date: 2020-01-07 Impact factor: 3.172

2. Expanding the global prevalence of spinocerebellar ataxia type 42.

Authors: Kathie Ngo; Mamdouh Aker; Lauren E Petty; Jason Chen; Francesca Cavalcanti; Alexandra B Nelson; Sharon Hassin-Baer; Michael D Geschwind; Susan Perlman; Domenico Italiano; Angelina Laganà; Sebastiano Cavallaro; Giovanni Coppola; Jennifer E Below; Brent L Fogel
Journal: Neurol Genet Date: 2018-04-05

10. Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel Ca_V3.1 caused by a mutation responsible for spinocerebellar ataxia.

Authors: Naoyuki Hara; Hiroyuki Morino; Yukiko Matsuda; Kenichi Satoh; Kouichi Hashimoto; Hirofumi Maruyama; Hideshi Kawakami
Journal: Mol Brain Date: 2020-11-26 Impact factor: 4.041

SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia.

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

2. Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12.

3. Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families.

4. A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.

5. A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.

1. Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia.

2. Expanding the global prevalence of spinocerebellar ataxia type 42.

Review 3. Neuronal Cav3 channelopathies: recent progress and perspectives.

Review 4. Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view.

5. Whole genome sequencing and rare variant analysis in essential tremor families.

Review 6. Genetic T-type calcium channelopathies.

7. Episodic Vestibulocerebellar Ataxia Associated with a CACNA1G Missense Variant.

Review 8. A case of a novel CACNA1G mutation from a Chinese family with SCA42: A case report and literature review.

Review 9. Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA).

10. Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel Ca_V3.1 caused by a mutation responsible for spinocerebellar ataxia.