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Literature DB >> 30838265

Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene.

Malco Rossi¹, Alex Medina Escobar¹, Martin Radrizzani², Silvia Tenembaum³, Claudia Perandones^4,5, Marcelo Merello^1,5.

Abstract

Entities: Disease Gene Species

Keywords: PEO; POLG; ataxia; dystonia; ophthalmoplegia; scoliosis

Year: 2016 PMID： 30838265 PMCID： PMC6353407 DOI： 10.1002/mdc3.12397

Source DB: PubMed Journal: Mov Disord Clin Pract ISSN： 2330-1619

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11 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. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

Authors: Petri Luoma; Atle Melberg; Juha O Rinne; Jyrki A Kaukonen; Nina N Nupponen; Richard M Chalmers; Anders Oldfors; Ilkka Rautakorpi; Leena Peltonen; Kari Majamaa; Hannu Somer; Anu Suomalainen
Journal: Lancet Date: 2004 Sep 4-10 Impact factor: 79.321

3. Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations.

Authors: Claire Hinnell; Salman Haider; Shane Delamont; Chris Clough; Nedim Hadzic; Michael Samuel
Journal: Mov Disord Date: 2011-09-28 Impact factor: 10.338

4. Complex hyperkinetic movement disorders associated with POLG mutations.

Authors: Matthis Synofzik; Rebecca Schüle; Claudia Schulte; Rejko Krüger; Tobias Lindig; Ludger Schöls; Friedrich Asmus
Journal: Mov Disord Date: 2010-10-30 Impact factor: 10.338

Review 5. Dopa-responsive dystonia--clinical and genetic heterogeneity.

Authors: Subhashie Wijemanne; Joseph Jankovic
Journal: Nat Rev Neurol Date: 2015-06-23 Impact factor: 42.937

Review 6. Steroidogenic acute regulatory protein (StAR), a novel mitochondrial cholesterol transporter.

Authors: Walter L Miller
Journal: Biochim Biophys Acta Date: 2007-03-06

7. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

Authors: Emiliano González-Vioque; Alberto Blázquez; Daniel Fernández-Moreira; Belén Bornstein; Juan Bautista; Javier Arpa; Carmen Navarro; Yolanda Campos; Miguel A Fernández-Moreno; Rafael Garesse; Joaquin Arenas; Miguel A Martín
Journal: Arch Neurol Date: 2006-01

8. 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

9. Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

Authors: Sebastian Paus; Gabor Zsurka; Miriam Baron; Marcus Deschauer; Christian Bamberg; Thomas Klockgether; Wolfram S Kunz; Cornelia Kornblum
Journal: Mov Disord Date: 2008-07-15 Impact factor: 10.338

10. Patient homozygous for a recessive POLG mutation presents with features of MERRF.

Authors: G Van Goethem; R Mercelis; A Löfgren; S Seneca; C Ceuterick; J J Martin; C Van Broeckhoven
Journal: Neurology Date: 2003-12-23 Impact factor: 9.910

4 in total

Review 1. Possible EIF2AK2-Associated Stress-Related Neurological Decompensation with Combined Dystonia and Striatal Lesions.

Authors: Sophie E Waller; Hugo Morales-Briceño; Laura Williams; Shekeeb S Mohammad; Avi Fellner; Kishore R Kumar; Michel Tchan; Victor S C Fung
Journal: Mov Disord Clin Pract Date: 2021-12-16