Literature DB >> 17030774

Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese.

Y Onodera1, M Aoki, H Mizuno, H Warita, Y Shiga, Y Itoyama.   

Abstract

Chromosome 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is strongly associated with a substitution in the puratrophin-1 gene. This locus overlaps with spinocerebellar ataxia type 4 (SCA4) which shows ataxia with prominent sensory axonal neuropathy. We found that 16q-ADCA is a common ADCA subtype in the Tohoku District of Japan. The clinical feature of Japanese 16q-ADCA is characterized as late-onset pure cerebellar ataxia.

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Year:  2006        PMID： 17030774     DOI： 10.1212/01.wnl.0000238507.85436.20

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  10 in total

1.  Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic.

Authors:  Yorck Hellenbroich; Veronica Bernard; Christine Zühlke
Journal:  J Neurol       Date:  2008-02-25       Impact factor: 4.849

2.  Inter-generational instability of inserted repeats during transmission in spinocerebellar ataxia type 31.

Authors:  Kunihiro Yoshida; Akira Matsushima; Katsuya Nakamura
Journal:  J Hum Genet       Date:  2017-06-22       Impact factor: 3.172

3.  Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study.

Authors:  Katsuya Nakamura; Kunihiro Yoshida; Akira Matsushima; Yusaku Shimizu; Shunichi Sato; Hiroyuki Yahikozawa; Shinji Ohara; Masanobu Yazawa; Masao Ushiyama; Mitsuto Sato; Hiroshi Morita; Atsushi Inoue; Shu-Ichi Ikeda
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

4.  Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan.

Authors:  Kunihiro Yoshida; Yusaku Shimizu; Hiroshi Morita; Tomomi Okano; Haruya Sakai; Takako Ohata; Naomichi Matsumoto; Katsuya Nakamura; Ko-ichi Tazawa; Shinji Ohara; Kenichi Tabata; Atsushi Inoue; Shunichi Sato; Yasuhiro Shimojima; Takeshi Hattori; Masao Ushiyama; Shu-ichi Ikeda
Journal:  Cerebellum       Date:  2009-03       Impact factor: 3.847

5.  Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan.

Authors:  Haruya Sakai; Kunihiro Yoshida; Yusaku Shimizu; Hiroshi Morita; Shu-ichi Ikeda; Naomichi Matsumoto
Journal:  Neurogenetics       Date:  2010-04-28       Impact factor: 2.660

6.  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

7.  Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia.

Authors:  Takeshi Amino; Kinya Ishikawa; Shuta Toru; Taro Ishiguro; Nozomu Sato; Taiji Tsunemi; Miho Murata; Kazuhiro Kobayashi; Johji Inazawa; Tatsushi Toda; Hidehiro Mizusawa
Journal:  J Hum Genet       Date:  2007-07-05       Impact factor: 3.172

8.  Plekhg4 is a novel Dbl family guanine nucleotide exchange factor protein for rho family GTPases.

Authors:  Meghana Gupta; Elena Kamynina; Samantha Morley; Stacey Chung; Nora Muakkassa; Hong Wang; Shayna Brathwaite; Gaurav Sharma; Danny Manor
Journal:  J Biol Chem       Date:  2013-04-09       Impact factor: 5.157

Review 9.  Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.

Authors:  Nathaniel Robb Whaley; Shinsuke Fujioka; Zbigniew K Wszolek
Journal:  Orphanet J Rare Dis       Date:  2011-05-28       Impact factor: 4.123

10.  Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.

Authors:  A Matilla-Dueñas; T Ashizawa; A Brice; S Magri; K N McFarland; M Pandolfo; S M Pulst; O Riess; D C Rubinsztein; J Schmidt; T Schmidt; D R Scoles; G Stevanin; F Taroni; B R Underwood; I Sánchez
Journal:  Cerebellum       Date:  2014-04       Impact factor: 3.847
  10 in total

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