Literature DB >> 34405109

Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.

Martje G Pauly1,2,3, Yorck Hellenbroich4, Kathrin Grundmann-Hauser5, Frauke Hinrichs1, Katja Lohmann1, Norbert Brüggemann1,3,6.   

Abstract

Entities:  

Keywords:  DARS2; hereditary spastic paraplegia; leukoencephalopathy; mimic

Year:  2021        PMID： 34405109      PMCID： PMC8354072          DOI： 10.1002/mdc3.13258

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


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  11 in total

1.  Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging.

Authors:  Marianne E Steenweg; Petra J W Pouwels; Nicole I Wolf; Wessel N van Wieringen; Frederik Barkhof; Marjo S van der Knaap
Journal:  Brain       Date:  2011-10-17       Impact factor: 13.501

2.  Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.

Authors:  Laura van Berge; Eline M Hamilton; Tarja Linnankivi; Graziella Uziel; Marjan E Steenweg; Pirjo Isohanni; Nicole I Wolf; Ingeborg Krägeloh-Mann; Nils J Brautaset; P Ian Andrews; Brigit A de Jong; Malak al Ghamdi; Wessel N van Wieringen; Bakhos A Tannous; Esther Hulleman; Thomas Würdinger; Carola G M van Berkel; Emiel Polder; Truus E M Abbink; Eduard A Struys; Gert C Scheper; Marjo S van der Knaap
Journal:  Brain       Date:  2014-02-24       Impact factor: 13.501

3.  Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with a novel DARS2 mutation and isolated progressive spastic paraparesis.

Authors:  Min-Yu Lan; Yung-Yee Chang; Tu-Hseuh Yeh; Tsu-Kung Lin; Chin-Song Lu
Journal:  J Neurol Sci       Date:  2016-11-24       Impact factor: 3.181

4.  Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene.

Authors:  Charalampos Tzoulis; Gia Tuong Tran; Ivar Otto Gjerde; Jan Aasly; Gesche Neckelmann; Jana Rydland; Viktoria Varga; Pia Wadel-Andersen; Laurence A Bindoff
Journal:  J Neurol       Date:  2011-07-27       Impact factor: 4.849

5.  The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey.

Authors:  Dilek Çavuşoğlu; Nihal Olgaç-Dündar; Özgür Öztekin; Taha Reşid Özdemir; Pınar Arıcan; Pınar Gençpınar
Journal:  Turk J Pediatr       Date:  2018       Impact factor: 0.552

6.  Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.

Authors:  Gert C Scheper; Thom van der Klok; Rob J van Andel; Carola G M van Berkel; Marie Sissler; Joél Smet; Tatjana I Muravina; Sergey V Serkov; Graziella Uziel; Marianna Bugiani; Raphael Schiffmann; Ingeborg Krägeloh-Mann; Jan A M Smeitink; Catherine Florentz; Rudy Van Coster; Jan C Pronk; Marjo S van der Knaap
Journal:  Nat Genet       Date:  2007-03-25       Impact factor: 38.330

7.  Early-onset LBSL: how severe does it get?

Authors:  M E Steenweg; L van Berge; C G M van Berkel; I F M de Coo; I K Temple; K Brockmann; C I P Mendonça; S Vojta; A Kolk; D Peck; L Carr; G Uziel; A Feigenbaum; S Blaser; G C Scheper; M S van der Knaap
Journal:  Neuropediatrics       Date:  2012-10-12       Impact factor: 1.947

8.  A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.

Authors:  Marjo S van der Knaap; Patrick van der Voorn; Frederik Barkhof; Rudy Van Coster; Ingeborg Krägeloh-Mann; Annette Feigenbaum; Susan Blaser; Johan S H Vles; Peter Rieckmann; Petra J W Pouwels
Journal:  Ann Neurol       Date:  2003-02       Impact factor: 10.422

9.  Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.

Authors:  Andrea H Németh; Alexandra C Kwasniewska; Stefano Lise; Ricardo Parolin Schnekenberg; Esther B E Becker; Katarzyna D Bera; Morag E Shanks; Lorna Gregory; David Buck; M Zameel Cader; Kevin Talbot; Rajith de Silva; Nicholas Fletcher; Rob Hastings; Sandeep Jayawant; Patrick J Morrison; Paul Worth; Malcolm Taylor; John Tolmie; Mary O'Regan; Ruth Valentine; Emily Packham; Julie Evans; Anneke Seller; Jiannis Ragoussis
Journal:  Brain       Date:  2013-09-11       Impact factor: 13.501

10.  Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.

Authors:  Ashraf Yahia; Liena Elsayed; Arwa Babai; Mustafa A Salih; Sarah Misbah El-Sadig; Mutaz Amin; Mahmoud Koko; Rayan Abubakr; Razaz Idris; Shaimaa Omer M A Taha; Salah A Elmalik; Alexis Brice; Ammar Eltahir Ahmed; Giovanni Stevanin
Journal:  BMC Neurol       Date:  2018-10-23       Impact factor: 2.474
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