A 30-year history of MPAN case from Russia
M Selikhova1, E Fedotova2, S Wiethoff3
1Reta Lila Weston Institute of Neurological Studies, UCL,1 Wakefield Street, London WC1N 1PJ, United Kingdom.
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.
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