INVESTIGADORES
SCHOTTLAENDER Lucia Valentina
artículos
Título:
A 30-year history of MPAN case from Russia
Autor/es:
SELIKHOVA, M.; FEDOTOVA, E.; WIETHOFF, S.; SCHOTTLAENDER, L.V.; KLYUSHNIKOV, S.; ILLARIOSHKIN, S.N.; HOULDEN, H.
Revista:
CLINICAL NEUROLOGY AND NEUROSURGERY
Editorial:
ELSEVIER SCIENCE BV
Referencias:
Año: 2017 vol. 159 p. 111 - 113
ISSN:
0303-8467
Resumen:
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.
