A 30-year history of MPAN case from Russia

M Selikhova; E Fedotova; S Wiethoff; L V Schottlaender; S Klyushnikov; S N Illarioshkin; H Houlden

doi:10.1016/j.clineuro.2017.05.025

A 30-year history of MPAN case from Russia

Clin Neurol Neurosurg. 2017 Aug:159:111-113. doi: 10.1016/j.clineuro.2017.05.025. Epub 2017 Jun 2.

Authors

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

Affiliations

¹ Reta Lila Weston Institute of Neurological Studies, UCL,1 Wakefield Street, London WC1N 1PJ, United Kingdom. Electronic address: m.selikhova@talk21.com.
² Research Center of Neurology, Department of Neurogenetics, Moscow, Russia.
³ Institute of Neurology, Department of Molecular Neurosciences, UCL, United Kingdom.

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

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.

Keywords: C19orf12; NBIA; Spastic ataxia; TruSight panels.

Publication types

Case Reports

MeSH terms

Adult
Female
Humans
Intellectual Disability / diagnostic imaging*
Intellectual Disability / genetics*
Mitochondrial Membrane Transport Proteins / genetics*
Mitochondrial Proteins / genetics*
Muscle Spasticity / diagnostic imaging*
Muscle Spasticity / genetics*
Optic Atrophy / diagnostic imaging*
Optic Atrophy / genetics*
Russia
Spinocerebellar Ataxias / diagnostic imaging*
Spinocerebellar Ataxias / genetics*
Time Factors

Substances

C19orf12 protein, human
Mitochondrial Membrane Transport Proteins
Mitochondrial Proteins

Supplementary concepts

Spastic Ataxia