Literature DB >> 26755490

Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation.

Adriana I Henao1, Sonia Pira1, Diego A Herrera2, Sergio A Vargas3, Jorge Montoya4, Mauricio Castillo5.   

Abstract

Patients with mutations in the polymerase gamma gene (POLG) may present with progressive ataxia and in such situations neuroimaging findings may suggest the diagnosis. Herein we report a patient with a POLG gene W748S homozygous mutation and characteristic lesions in the thalamus, cerebellum and inferior olivary nucleus seen on magnetic resonance imaging.
© The Author(s) 2016.

Entities:  

Keywords:  Ataxia; MRI; POLG

Mesh：

Substances：

Year:  2016        PMID： 26755490      PMCID： PMC4978342          DOI： 10.1177/1971400915621324

Source DB:  PubMed          Journal:  Neuroradiol J        ISSN： 1971-4009


  12 in total

1.  Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Authors:  Eleonora Lamantea; Valeria Tiranti; Andreina Bordoni; Antonio Toscano; Francesco Bono; Serena Servidei; Alex Papadimitriou; Hans Spelbrink; Laura Silvestri; Giorgio Casari; Giacomo P Comi; Massimo Zeviani
Journal:  Ann Neurol       Date:  2002-08       Impact factor: 10.422

2.  Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Authors:  Rita Horvath; Gavin Hudson; Gianfrancesco Ferrari; Nancy Fütterer; Sofia Ahola; Eleonora Lamantea; Holger Prokisch; Hanns Lochmüller; Robert McFarland; V Ramesh; Thomas Klopstock; Peter Freisinger; Fabrizio Salvi; Johannes A Mayr; Rene Santer; Marketa Tesarova; Jiri Zeman; Bjarne Udd; Robert W Taylor; Douglass Turnbull; Michael Hanna; Doreen Fialho; Anu Suomalainen; Massimo Zeviani; Patrick F Chinnery
Journal:  Brain       Date:  2006-04-18       Impact factor: 13.501

3.  Teaching NeuroImages: hypertrophic olivary degeneration in a young man with POLG gene mutation.

Authors:  David Arkadir; Vardiella Meiner; Arnon Karni; Alexander Lossos
Journal:  Neurology       Date:  2015-02-24       Impact factor: 9.910

4.  Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.

Authors:  Anna H Hakonen; Silja Heiskanen; Vesa Juvonen; Ilse Lappalainen; Petri T Luoma; Maria Rantamaki; Gert Van Goethem; Ann Lofgren; Peter Hackman; Anders Paetau; Seppo Kaakkola; Kari Majamaa; Teppo Varilo; Bjarne Udd; Helena Kaariainen; Laurence A Bindoff; Anu Suomalainen
Journal:  Am J Hum Genet       Date:  2005-07-27       Impact factor: 11.025

Review 5.  Clinical and molecular features of POLG-related mitochondrial disease.

Authors:  Jeffrey D Stumpf; Russell P Saneto; William C Copeland
Journal:  Cold Spring Harb Perspect Biol       Date:  2013-04-01       Impact factor: 10.005

6.  Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

Authors:  Mario Habek; Barbara Barun; Ivan Adamec; Zoran Mitrović; David Ozretić; Vesna V Brinar
Journal:  Neurologist       Date:  2012-09       Impact factor: 1.398

7.  Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family.

Authors:  M Rantamäki; R Krahe; A Paetau; B Cormand; I Mononen; B Udd
Journal:  Neurology       Date:  2001-09-25       Impact factor: 9.910

8.  Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.

Authors:  Margherita Milone; Nicola Brunetti-Pierri; Lin-Ya Tang; Neeraj Kumar; Michelle M Mezei; Keith Josephs; Suzanne Powell; Ericka Simpson; Lee-Jun C Wong
Journal:  Neuromuscul Disord       Date:  2008-06-27       Impact factor: 4.296

9.  POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

Authors:  G Van Goethem; P Luoma; M Rantamäki; A Al Memar; S Kaakkola; P Hackman; R Krahe; A Löfgren; J J Martin; P De Jonghe; A Suomalainen; B Udd; C Van Broeckhoven
Journal:  Neurology       Date:  2004-10-12       Impact factor: 9.910

10.  Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

Authors:  S Winterthun; G Ferrari; L He; R W Taylor; M Zeviani; D M Turnbull; B A Engelsen; G Moen; L A Bindoff
Journal:  Neurology       Date:  2005-04-12       Impact factor: 9.910
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  4 in total

Review 1.  Inherited mitochondrial genomic instability and chemical exposures.

Authors:  Sherine S L Chan
Journal:  Toxicology       Date:  2017-07-26       Impact factor: 4.221

2.  Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.

Authors:  Alejandro Horga; Andreea Manole; Alice L Mitchell; Enrico Bugiardini; Iain P Hargreaves; Walied Mowafi; Conceição Bettencourt; Emma L Blakely; Langping He; James M Polke; Catherine E Woodward; Ilaria Dalla Rosa; Sachit Shah; Alan M Pittman; Ros Quinlivan; Mary M Reilly; Robert W Taylor; Ian J Holt; Michael G Hanna; Robert D S Pitceathly; Antonella Spinazzola; Henry Houlden
Journal:  Mol Biol Rep       Date:  2021-03-19       Impact factor: 2.316

Review 3.  Recessive cerebellar and afferent ataxias - clinical challenges and future directions.

Authors:  Marie Beaudin; Mario Manto; Jeremy D Schmahmann; Massimo Pandolfo; Nicolas Dupre
Journal:  Nat Rev Neurol       Date:  2022-03-24       Impact factor: 42.937

Review 4.  Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity.

Authors:  Piervito Lopriore; Valentina Ricciarini; Gabriele Siciliano; Michelangelo Mancuso; Vincenzo Montano
Journal:  Neurol Int       Date:  2022-04-02
  4 in total

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