Literature DB >> 17541229

Two cases of spinocerebellar ataxia accompanied by involvement of the skeletal motor neuron system and bulbar palsy.

Yasuyuki Ohta1, Takeshi Hayashi, Makiko Nagai, Miyuki Okamoto, Shoko Nagotani, Isao Nagano, Nobuhiko Ohmori, Yasushi Takehisa, Tetsuro Murakami, Mikio Shoji, Tatsushi Kamiya, Koji Abe.   

Abstract

We report two patients with spinocerebellar ataxia (SCA) with cranial and spinal motor neuron involvement. They initially presented with cerebellar ataxia, followed by bulbar palsy and limb motor neuron sign. One of the patients had a brother with allied disorder. SCA type 1 (SCA1), SCA3 and SCA6 have been reported to involve the motor neuron system, but they were excluded by DNA analyses in the present two patients. These two patients may form a distinct disease entity among SCAs.

Entities:  

Mesh：

Substances：

Year:  2007        PMID： 17541229     DOI： 10.2169/internalmedicine.46.6261

Source DB:  PubMed          Journal:  Intern Med        ISSN： 0918-2918            Impact factor:   1.271


  7 in total

1.  Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis.

Authors:  T Lee; Y R Li; A Chesi; M P Hart; D Ramos; N Jethava; D Hosangadi; J Epstein; B Hodges; N M Bonini; A D Gitler
Journal:  Neurology       Date:  2011-05-11       Impact factor: 9.910

2.  Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36.

Authors:  Zachary T McEachin; Tania F Gendron; Nisha Raj; María García-Murias; Anwesha Banerjee; Ryan H Purcell; Patricia J Ward; Tiffany W Todd; Megan E Merritt-Garza; Karen Jansen-West; Chadwick M Hales; Tania García-Sobrino; Beatriz Quintáns; Christopher J Holler; Georgia Taylor; Beatriz San Millán; Susana Teijeira; Toru Yamashita; Ryuichi Ohkubo; Nicholas M Boulis; Chongchong Xu; Zhexing Wen; Nathalie Streichenberger; Brent L Fogel; Thomas Kukar; Koji Abe; Dennis W Dickson; Manuel Arias; Jonathan D Glass; Jie Jiang; Malú G Tansey; María-Jesús Sobrido; Leonard Petrucelli; Wilfried Rossoll; Gary J Bassell
Journal:  Neuron       Date:  2020-05-05       Impact factor: 17.173

3.  Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.

Authors:  Hatasu Kobayashi; Koji Abe; Tohru Matsuura; Yoshio Ikeda; Toshiaki Hitomi; Yuji Akechi; Toshiyuki Habu; Wanyang Liu; Hiroko Okuda; Akio Koizumi
Journal:  Am J Hum Genet       Date:  2011-06-16       Impact factor: 11.025

Review 4.  Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature.

Authors:  Lorenzo Nanetti; Roberto Fancellu; Chiara Tomasello; Cinzia Gellera; Davide Pareyson; Caterina Mariotti
Journal:  J Neurol       Date:  2009-07-31       Impact factor: 4.849

Review 5.  Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art.

Authors:  Matthew J Walsh; Johnathan Cooper-Knock; Jennifer E Dodd; Matthew J Stopford; Simeon R Mihaylov; Janine Kirby; Pamela J Shaw; Guillaume M Hautbergue
Journal:  Neuropathol Appl Neurobiol       Date:  2015-02       Impact factor: 8.090

Review 6.  Spinocerebellar Ataxia 36: From Mutations Toward Therapies.

Authors:  Samuel Lopez; Fang He
Journal:  Front Genet       Date:  2022-03-04       Impact factor: 4.599

7.  Coenzyme Q10 Supplementation Increases Removal of the ATXN3 Polyglutamine Repeat, Reducing Cerebellar Degeneration and Improving Motor Dysfunction in Murine Spinocerebellar Ataxia Type 3.

Authors:  Yu-Ling Wu; Jui-Chih Chang; Hai-Lun Sun; Wen-Ling Cheng; Yu-Pei Yen; Yong-Shiou Lin; Yi-Chun Chao; Ko-Hung Liu; Ching-Shan Huang; Kai-Li Liu; Chin-San Liu
Journal:  Nutrients       Date:  2022-08-31       Impact factor: 6.706
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.