Literature DB >> 12134185

Dystonia as presenting manifestation of ataxia telangiectasia : a case report.

V Goyal1, M Behari.   

Abstract

Ataxia telangiectasia is a genetically inherited multisystem disorder with predominant feature being telangiectasia and cerebellar ataxia. In this report, a family of three siblings suffering from ataxia telangiectasia is described. The proband presented with dystonia and dystonic myoclonus, both of which are rare presenting features of ataxia telangiectasia.

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Mesh：

Year:  2002        PMID： 12134185

Source DB:  PubMed          Journal:  Neurol India        ISSN： 0028-3886            Impact factor:   2.117


  7 in total

Review 1.  The functional neuroanatomy of dystonia.

Authors:  Vladimir K Neychev; Robert E Gross; Stephane Lehéricy; Ellen J Hess; H A Jinnah
Journal:  Neurobiol Dis       Date:  2011-02-12       Impact factor: 5.996

2.  Myoclonus-Dystonia Presentation of ATM Gene Mutation in a Canadian Mennonite.

Authors:  Jacky Ganguly; Mellany Tuesta Bernaola; Sharan Goobie; Asuri Prasad; Mandar Jog
Journal:  Mov Disord Clin Pract       Date:  2021-12-01

3.  Prominent oromandibular dystonia and pharyngeal telangiectasia in atypical ataxia telangiectasia.

Authors:  Fatima Carrillo; Susanne A Schneider; A Malcolm R Taylor; Venkataramanan Srinivasan; Raj Kapoor; Kailash P Bhatia
Journal:  Cerebellum       Date:  2009-03       Impact factor: 3.847

Review 4.  More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes.

Authors:  Toni S Pearson
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2016-07-16

5.  The natural history of ataxia-telangiectasia (A-T): A systematic review.

Authors:  Emily Petley; Alexander Yule; Shaun Alexander; Shalini Ojha; William P Whitehouse
Journal:  PLoS One       Date:  2022-03-15       Impact factor: 3.752

6.  Ataxia telangiectasia: A report of two cousins and review of literature.

Authors:  Anjali Sharma; Gurdeep Buxi; Rajbala Yadav; Ashok Kohli
Journal:  Indian J Med Paediatr Oncol       Date:  2011-10

7.  Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations.

Authors:  Majid Zaki-Dizaji; Mohammad Tajdini; Fatemeh Kiaee; Hossein Shojaaldini; Reza Shervin Badv; Hassan Abolhassani; Asghar Aghamohammadi
Journal:  Oman Med J       Date:  2020-02-17
  7 in total

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