Literature DB >> 30229425

Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation.

Chih-Chun Lin1, Shi-Rui Gan2, Deepak Gupta3, Armin Alaedini4,5, Peter H Green4,5, Sheng-Han Kuo6.   

Abstract

Genetic mutations in transglutaminase 6 (TGM6) are recently identified to be associated with spinocerebellar ataxia type 35 (SCA35). We report a Hispanic SCA35 patient, who was confirmed to have a heterozygous, single-nucleotide deletion in TGM6, causing a frameshift mutation with a premature stop codon. An immune-mediated ataxia previously found to be associated with autoantibody reactivity to TG6 may share a similar pathomechanism to SCA35, suggesting a converging role for TG6 in cerebellar function.

Entities:  

Keywords:  Cerebellum; Gluten; SCA35; Spinocerebellar ataxia; TGM6; Transglutaminase

Mesh：

Substances：

Year:  2019        PMID： 30229425      PMCID： PMC6544358          DOI： 10.1007/s12311-018-0978-6

Source DB:  PubMed          Journal:  Cerebellum        ISSN： 1473-4222            Impact factor:   3.847


  15 in total

Review 1.  Mechanism and basis for specificity of transglutaminase-catalyzed epsilon-(gamma-glutamyl) lysine bond formation.

Authors:  J E Folk
Journal:  Adv Enzymol Relat Areas Mol Biol       Date:  1983

2.  Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.

Authors:  M Li; S Y Y Pang; Y Song; M H W Kung; S-L Ho; P-C Sham
Journal:  Clin Genet       Date:  2012-05-29       Impact factor: 4.438

3.  TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Authors:  Jun Ling Wang; Xu Yang; Kun Xia; Zheng Mao Hu; Ling Weng; Xin Jin; Hong Jiang; Peng Zhang; Lu Shen; Ji Feng Guo; Nan Li; Ying Rui Li; Li Fang Lei; Jie Zhou; Juan Du; Ya Fang Zhou; Qian Pan; Jian Wang; Jun Wang; Rui Qiang Li; Bei Sha Tang
Journal:  Brain       Date:  2010-11-23       Impact factor: 13.501

4.  Gluten T cell epitope targeting by TG3 and TG6; implications for dermatitis herpetiformis and gluten ataxia.

Authors:  Jorunn Stamnaes; Siri Dorum; Burkhard Fleckenstein; Daniel Aeschlimann; Ludvig M Sollid
Journal:  Amino Acids       Date:  2010-03-19       Impact factor: 3.520

5.  Dietary treatment of gluten ataxia.

Authors:  M Hadjivassiliou; G A B Davies-Jones; D S Sanders; R A Grünewald
Journal:  J Neurol Neurosurg Psychiatry       Date:  2003-09       Impact factor: 10.154

6.  Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase.

Authors:  Marios Hadjivassiliou; Pascale Aeschlimann; Alexander Strigun; David S Sanders; Nicola Woodroofe; Daniel Aeschlimann
Journal:  Ann Neurol       Date:  2008-09       Impact factor: 10.422

7.  The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

Authors:  A E Harding
Journal:  Brain       Date:  1982-03       Impact factor: 13.501

8.  Clinical, radiological, neurophysiological, and neuropathological characteristics of gluten ataxia.

Authors:  M Hadjivassiliou; R A Grünewald; A K Chattopadhyay; G A Davies-Jones; A Gibson; J A Jarratt; R H Kandler; A Lobo; T Powell; C M Smith
Journal:  Lancet       Date:  1998-11-14       Impact factor: 79.321

9.  Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics.

Authors:  Marios Hadjivassiliou; Richard Grünewald; Basil Sharrack; David Sanders; Alan Lobo; Clare Williamson; Nicola Woodroofe; Nicholas Wood; Aelwyn Davies-Jones
Journal:  Brain       Date:  2003-03       Impact factor: 13.501

10.  Transglutaminase 6 antibodies in the diagnosis of gluten ataxia.

Authors:  Marios Hadjivassiliou; Pascale Aeschlimann; David S Sanders; Markku Mäki; Katri Kaukinen; R A Grünewald; Oliver Bandmann; Nicola Woodroofe; Gail Haddock; Daniel P Aeschlimann
Journal:  Neurology       Date:  2013-04-10       Impact factor: 9.910
View more
  3 in total

Review 1.  An Overview of the Current State and the Future of Ataxia Treatments.

Authors:  Kimberly Tsu Kwei; Sheng-Han Kuo
Journal:  Neurol Clin       Date:  2020-02-27       Impact factor: 3.806

2.  TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35.

Authors:  Yanxing Chen; Dengchang Wu; Benyan Luo; Guohua Zhao; Kang Wang
Journal:  Neurol Genet       Date:  2020-04-22

3.  A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.

Authors:  Arianna Manini; Tommaso Bocci; Alice Migazzi; Edoardo Monfrini; Dario Ronchi; Giulia Franco; Anna De Rosa; Ferdinando Sartucci; Alberto Priori; Stefania Corti; Giacomo Pietro Comi; Nereo Bresolin; Manuela Basso; Alessio Di Fonzo
Journal:  BMC Neurol       Date:  2020-11-07       Impact factor: 2.474
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.