Literature DB >> 30773994

TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature.

M González-Sánchez1,2,3, V Puertas-Martín1,2, J Esteban-Pérez1,4,5, A García-Redondo4,5, D Borrego-Hernández4, A Méndez-Guerrero1, S Llamas-Velasco1,2,3, A Herrero-San Martín1,2,3, P Cordero-Vázquez1,4, M C Herrero-Manso1, D A Pérez-Martínez1,2,3,6, A Villarejo-Galende1,2,3,6.   

Abstract

Semantic variant primary progressive aphasia (svPPA) is a clinical syndrome included in the frontotemporal dementia (FTD) spectrum. Unlike other forms of FTD, it is sporadic in the majority of cases and not commonly associated with motor neuron disease (MND). We describe a case of svPPA associated with MND in the same family, due to a mutation of the transactive response DNA binding protein (TARDBP) gene, and review the literature.

Entities:  

Keywords:  Semantic variant PPA; TARDBP mutation; TDP-43; genetics; motor neuron disease

Mesh：

Substances：

Year:  2019        PMID： 30773994     DOI： 10.1080/13554794.2019.1581225

Source DB:  PubMed          Journal:  Neurocase        ISSN： 1355-4794            Impact factor:   0.881


  7 in total

Review 1.  Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis.

Authors:  Suvi Häkkinen; Stephanie A Chu; Suzee E Lee
Journal:  Neurobiol Dis       Date:  2020-09-02       Impact factor: 5.996

2.  Neuropathological fingerprints of survival, atrophy and language in primary progressive aphasia.

Authors:  M Marsel Mesulam; Christina A Coventry; Eileen H Bigio; Jaiashre Sridhar; Nathan Gill; Angela J Fought; Hui Zhang; Cynthia K Thompson; Changiz Geula; Tamar Gefen; Margaret Flanagan; Qinwen Mao; Sandra Weintraub; Emily J Rogalski
Journal:  Brain       Date:  2022-06-30       Impact factor: 15.255

3.  Diagnostic Assessment in Primary Progressive Aphasia: An Illustrative Case Example.

Authors:  Eduardo Europa; Leonardo Iaccarino; David C Perry; Elizabeth Weis; Ariane E Welch; Gil D Rabinovici; Bruce L Miller; Maria Luisa Gorno-Tempini; Maya L Henry
Journal:  Am J Speech Lang Pathol       Date:  2020-09-10       Impact factor: 2.408

4.  The Right Temporal Variant of Frontotemporal Dementia Is Not Genetically Sporadic: A Case Series.

Authors:  Hulya Ulugut Erkoyun; Sven J van der Lee; Bas Nijmeijer; Rosalina van Spaendonk; Anne Nelissen; Marta Scarioni; Anke Dijkstra; Bedia Samancı; Hakan Gürvit; Zerrin Yıldırım; Fatih Tepgeç; Basar Bilgic; Frederik Barkhof; Annemieke Rozemuller; Wiesje M van der Flier; Philip Scheltens; Petra Cohn-Hokke; Yolande Pijnenburg
Journal:  J Alzheimers Dis       Date:  2021       Impact factor: 4.472

Review 5.  Primary progressive aphasia and motor neuron disease: A review.

Authors:  Edoardo Nicolò Aiello; Sarah Feroldi; Giulia De Luca; Lucilla Guidotti; Eleonora Arrigoni; Ildebrando Appollonio; Federica Solca; Laura Carelli; Barbara Poletti; Federico Verde; Vincenzo Silani; Nicola Ticozzi
Journal:  Front Aging Neurosci       Date:  2022-09-08       Impact factor: 5.702

6.  Somatic TARDBP variants as a cause of semantic dementia.

Authors:  Jeroen van Rooij; Merel O Mol; Shamiram Melhem; Pelle van der Wal; Pascal Arp; Francesca Paron; Laura Donker Kaat; Harro Seelaar; Suzanne S M Miedema; Takuya Oshima; Bart J L Eggen; André Uitterlinden; Joyce van Meurs; Ronald E van Kesteren; August B Smit; Emanuele Buratti; John C van Swieten
Journal:  Brain       Date:  2020-12-01       Impact factor: 13.501

7.  Genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis patients with TARDBP mutations.

Authors:  Feng Feng; Hongfen Wang; Jiajin Liu; Zhanjun Wang; Baixuan Xu; Kun Zhao; Xiaoyong Tao; Zhengqing He; Fei Yang; Xusheng Huang
Journal:  Brain Behav       Date:  2021-08-01       Impact factor: 2.708
  7 in total

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