Literature DB >> 26402116

A Novel MAPT Mutation Causing Corticobasal Syndrome Led by Progressive Apraxia of Speech.

Charles R Marshall1, Rita Guerreiro2, Steffi Thust3, Phillip Fletcher1, Jonathan D Rohrer1, Nick C Fox1.   

Abstract

The authors describe a case of corticobasal syndrome led by progressive apraxia of speech, associated with a novel mutation in exon 10 of the MAPT gene. Genetic bases for progressive apraxia of speech and corticobasal syndrome are only rarely described, and have not been described in conjunction.

Entities:  

Keywords:  Corticobasal syndrome; frontotemporal dementia; microtubule-associated protein tau; progressive apraxia of speech

Mesh:

Substances:

Year:  2015        PMID: 26402116     DOI: 10.3233/JAD-150477

Source DB:  PubMed          Journal:  J Alzheimers Dis        ISSN: 1387-2877            Impact factor:   4.472


  5 in total

1.  Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.

Authors:  Emilia M Gatto; Ricardo F Allegri; Gustavo Da Prat; Patricio Chrem Mendez; David S Hanna; Michael O Dorschner; Ezequiel I Surace; Cyrus P Zabetian; Ignacio F Mata
Journal:  Neurobiol Aging       Date:  2017-02-10       Impact factor: 4.673

2.  The Two Cysteines of Tau Protein Are Functionally Distinct and Contribute Differentially to Its Pathogenicity in Vivo.

Authors:  Engie Prifti; Eleni N Tsakiri; Ergina Vourkou; George Stamatakis; Martina Samiotaki; Katerina Papanikolopoulou
Journal:  J Neurosci       Date:  2020-12-17       Impact factor: 6.167

Review 3.  New Features about Tau Function and Dysfunction.

Authors:  Miguel Medina; Félix Hernández; Jesús Avila
Journal:  Biomolecules       Date:  2016-04-19

Review 4.  Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review.

Authors:  Federica Arienti; Giulia Lazzeri; Maria Vizziello; Edoardo Monfrini; Nereo Bresolin; Maria Cristina Saetti; Marina Picillo; Giulia Franco; Alessio Di Fonzo
Journal:  Cells       Date:  2021-01-15       Impact factor: 6.600

5.  Language in corticobasal syndrome: a systematic review.

Authors:  Isabel Junqueira de Almeida; Marcela Lima Silagi; Jacy Bezerra Parmera; Sonia Maria Dozzi Brucki; Eliane Schochat
Journal:  Dement Neuropsychol       Date:  2021 Jan-Mar
  5 in total

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