| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5627021 | Clinical Neurology and Neurosurgery | 2017 | 10 Pages |
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 30Â 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.
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Authors
M. Selikhova, E. Fedotova, S. Wiethoff, L.V. Schottlaender, S. Klyushnikov, S.N. Illarioshkin, H. Houlden,