Literature DB >> 28641177

A 30-year history of MPAN case from Russia.

M Selikhova1, E Fedotova2, S Wiethoff3, L V Schottlaender3, S Klyushnikov2, S N Illarioshkin2, H Houlden3.   

Abstract

We present a patient with progressive spastic ataxia, with dystonia and anarthria undiagnosed until detailed genetic analysis revealed an MPAN mutation. Highlighting the worldwide MPAN distribution, a 30year history of absent diagnosis and the impact and cost saving of an early but detailed genetic analysis in complex progressive movement disorders, particularly the anarthric NBIA group.
Copyright © 2017 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  C19orf12; NBIA; Spastic ataxia; TruSight panels

Mesh：

Substances：

Year:  2017        PMID： 28641177     DOI： 10.1016/j.clineuro.2017.05.025

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN： 0303-8467            Impact factor:   1.876


  4 in total

1.  Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing.

Authors:  Peter Sparber; Andrey Marakhonov; Alexandra Filatova; Inna Sharkova; Mikhail Skoblov
Journal:  Neurogenetics       Date:  2018-11-03       Impact factor: 2.660

2.  SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.

Authors:  Gauthier Remiche; Isabelle Vandernoot; Niloufar Sadeghi-Meibodi; Laurence Desmyter
Journal:  Neurogenetics       Date:  2021-01-04       Impact factor: 2.660

3.  A new NBIA patient from Turkey with homozygous C19ORF12 mutation.

Authors:  Çiğdem Seher Kasapkara; Leyla Tümer; Allison Gregory; Fatih Ezgü; Aslı İnci; Betül Emine Derinkuyu; Rachel Fox; Caleb Rogers; Susan Hayflick
Journal:  Acta Neurol Belg       Date:  2018-10-08       Impact factor: 2.396

4.  Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein-Associated Neurodegeneration.

Authors:  Yue Yang; Shijie Zhang; Wenming Yang; Taohua Wei; Wenjie Hao; Ting Cheng; Jiuxiang Wang; Wei Dong; Nannan Qian
Journal:  Front Genet       Date:  2022-03-30       Impact factor: 4.599
  4 in total

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