Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion

Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion

Here we report the case of an ALS patient found to carry both a novel heterozygous change (c.194G>A) within the spastin gene and a homozygous deletion of the SMN2 gene. The patient was started on valproic acid (VPA, 600 mg/die per os) considering the capacity of this drug of increasing survival m...

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Main Authors: Lucio Tremolizzo, Gessica Sala, Elisa Conti, Virginia Rodriguez-Menendez, Antonella Fogli, Angela Michelucci, Paolo Simi, Silvana Penco, Christian Lunetta, Massimo Corbo, Carlo Ferrarese
Format: Article
Language:English
Published: Wiley 2014-01-01
Series:Case Reports in Neurological Medicine
Online Access:http://dx.doi.org/10.1155/2014/216094
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