Literature DB >> 16116133

A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III.

K Owada1, K Ishikawa, S Toru, G Ishida, M Gomyoda, O Tao, Y Noguchi, K Kitamura, I Kondo, E Noguchi, T Arinami, H Mizusawa.   

Abstract

Presented is the new kindred with autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 (16q-ADCA type III) associated with progressive hearing loss. By haplotype analysis, the critical interval was slightly narrowed to three megabase regions between GATA01 and D16S3095. Neuropathologic study of 16q-ADCA type III demonstrated characteristic shrinkage of Purkinje cell bodies surrounded by synaptophysin-immunoreactive amorphous material containing calbindin- and ubiquitin-positive granules.

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Year:  2005        PMID： 16116133     DOI： 10.1212/01.wnl.0000173065.75680.e2

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


  22 in total

1.  Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia.

Authors:  Yoshiko Furiya; Makito Hirano; Masami Nomura; Hirohide Asai; Takao Kiriyama; Satoshi Ueno
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-09       Impact factor: 10.154

2.  Secretory Carrier Membrane Protein 2 Regulates Cell-surface Targeting of Brain-enriched Na+/H+ Exchanger NHE5.

Authors:  Graham H Diering; John Church; Masayuki Numata
Journal:  J Biol Chem       Date:  2009-03-10       Impact factor: 5.157

3.  An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.

Authors:  Kinya Ishikawa; Shuta Toru; Taiji Tsunemi; Mingshun Li; Kazuhiro Kobayashi; Takanori Yokota; Takeshi Amino; Kiyoshi Owada; Hiroto Fujigasaki; Masaki Sakamoto; Hiroyuki Tomimitsu; Minoru Takashima; Jiro Kumagai; Yoshihiro Noguchi; Yoshiyuki Kawashima; Norio Ohkoshi; Gen Ishida; Manabu Gomyoda; Mari Yoshida; Yoshio Hashizume; Yuko Saito; Shigeo Murayama; Hiroshi Yamanouchi; Toshio Mizutani; Ikuko Kondo; Tatsushi Toda; Hidehiro Mizusawa
Journal:  Am J Hum Genet       Date:  2005-07-06       Impact factor: 11.025

4.  Visual scanning area is abnormally enlarged in hereditary pure cerebellar ataxia.

Authors:  Shunichi Matsuda; Hideyuki Matsumoto; Toshiaki Furubayashi; Hideki Fukuda; Ritsuko Hanajima; Shoji Tsuji; Yoshikazu Ugawa; Yasuo Terao
Journal:  Cerebellum       Date:  2015-04       Impact factor: 3.847

5.  Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia.

Authors:  Yoshiko Furiya; Makito Hirano; Masami Nomura; Hidehiro Asai; Takao Kiriyama; Satoshi Ueno
Journal:  BMJ Case Rep       Date:  2009-02-02

6.  Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic.

Authors:  Ulf Edener; Veronica Bernard; Yorck Hellenbroich; Gabriele Gillessen-Kaesbach; Christine Zühlke
Journal:  J Neurol       Date:  2011-01-26       Impact factor: 4.849

7.  Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

Authors:  Noriko Miyake; Ryoko Fukai; Chihiro Ohba; Takahiro Chihara; Masayuki Miura; Hiroshi Shimizu; Akiyoshi Kakita; Eri Imagawa; Masaaki Shiina; Kazuhiro Ogata; Jiu Okuno-Yuguchi; Noboru Fueki; Yoshifumi Ogiso; Hiroshi Suzumura; Yoshiyuki Watabe; George Imataka; Huey Yin Leong; Aviva Fattal-Valevski; Uri Kramer; Satoko Miyatake; Mitsuhiro Kato; Nobuhiko Okamoto; Yoshinori Sato; Satomi Mitsuhashi; Ichizo Nishino; Naofumi Kaneko; Akira Nishiyama; Tomohiko Tamura; Takeshi Mizuguchi; Mitsuko Nakashima; Fumiaki Tanaka; Hirotomo Saitsu; Naomichi Matsumoto
Journal:  Am J Hum Genet       Date:  2016-09-22       Impact factor: 11.025

8.  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

9.  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

10.  Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.

Authors:  Nozomu Sato; Takeshi Amino; Kazuhiro Kobayashi; Shuichi Asakawa; Taro Ishiguro; Taiji Tsunemi; Makoto Takahashi; Tohru Matsuura; Kevin M Flanigan; Sawa Iwasaki; Fumitoshi Ishino; Yuko Saito; Shigeo Murayama; Mari Yoshida; Yoshio Hashizume; Yuji Takahashi; Shoji Tsuji; Nobuyoshi Shimizu; Tatsushi Toda; Kinya Ishikawa; Hidehiro Mizusawa
Journal:  Am J Hum Genet       Date:  2009-10-29       Impact factor: 11.025
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