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A 30-year history of MPAN case from Russia

Selikhova, M; Fedotova, E; Wiethoff, S; Schottlaender, LV; Klyushnikov, S; Illarioshkin, SN; Houlden, H; (2017) A 30-year history of MPAN case from Russia. Clinical Neurology and Neurosurgery , 159 pp. 111-113. 10.1016/j.clineuro.2017.05.025. Green open access

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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 30 year 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.

Type: Article
Title: A 30-year history of MPAN case from Russia
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.clineuro.2017.05.025
Publisher version: https://doi.org/10.1016/j.clineuro.2017.05.025
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Spastic ataxia, C19orf12, TruSight panels, NBIA
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10087805
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