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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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2014/216094 |
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| author | Lucio Tremolizzo Gessica Sala Elisa Conti Virginia Rodriguez-Menendez Antonella Fogli Angela Michelucci Paolo Simi Silvana Penco Christian Lunetta Massimo Corbo Carlo Ferrarese |
| author_facet | Lucio Tremolizzo Gessica Sala Elisa Conti Virginia Rodriguez-Menendez Antonella Fogli Angela Michelucci Paolo Simi Silvana Penco Christian Lunetta Massimo Corbo Carlo Ferrarese |
| author_sort | Lucio Tremolizzo |
| collection | DOAJ |
| description | 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 motor neuron through an epigenetic mechanism. Patient clinical course and molecular effects of VPA on skin fibroblasts obtained from the proband are described. This c.194G>A spastin mutation might expand the previously known borders of type 4 spastic paraplegia (SPG4) and we suggest the intriguing possibility that the absence of SMN2 might have acted as a contributory risk factor for starting lower motor neuron damage. Exploring the relationship genocopy-phenocopy in selected ALS patients might represent an interesting strategy for understanding its clinical variability. |
| format | Article |
| id | doaj-art-28f0c02c28f94af68372bdecae36f61e |
| institution | Kabale University |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-28f0c02c28f94af68372bdecae36f61e2025-02-03T01:12:10ZengWileyCase Reports in Neurological Medicine2090-66682090-66762014-01-01201410.1155/2014/216094216094Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous DeletionLucio Tremolizzo0Gessica Sala1Elisa Conti2Virginia Rodriguez-Menendez3Antonella Fogli4Angela Michelucci5Paolo Simi6Silvana Penco7Christian Lunetta8Massimo Corbo9Carlo Ferrarese10Section of Neurology, Ospedale San Gerardo and DCMT, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Via Pergolesi 33, 20900 Monza, ItalySection of Neurology, Ospedale San Gerardo and DCMT, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Via Pergolesi 33, 20900 Monza, ItalySection of Neurology, Ospedale San Gerardo and DCMT, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Via Pergolesi 33, 20900 Monza, ItalySection of Neurology, Ospedale San Gerardo and DCMT, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Via Pergolesi 33, 20900 Monza, ItalyMedical Genetics, A.O.U. Pisana, Ospedale Santa Chiara, Pisa, ItalyMedical Genetics, A.O.U. Pisana, Ospedale Santa Chiara, Pisa, ItalyMedical Genetics, A.O.U. Pisana, Ospedale Santa Chiara, Pisa, ItalyMedical Genetics, Department of Laboratory Medicine, Fondazione Serena, Ospedale Niguarda Ca’ Granda, Milano, ItalyNEuroMuscular Omnicentre (NEMO), Fondazione Serena, Ospedale Niguarda Ca’ Granda, Milano, ItalyNEuroMuscular Omnicentre (NEMO), Fondazione Serena, Ospedale Niguarda Ca’ Granda, Milano, ItalySection of Neurology, Ospedale San Gerardo and DCMT, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Via Pergolesi 33, 20900 Monza, ItalyHere 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 motor neuron through an epigenetic mechanism. Patient clinical course and molecular effects of VPA on skin fibroblasts obtained from the proband are described. This c.194G>A spastin mutation might expand the previously known borders of type 4 spastic paraplegia (SPG4) and we suggest the intriguing possibility that the absence of SMN2 might have acted as a contributory risk factor for starting lower motor neuron damage. Exploring the relationship genocopy-phenocopy in selected ALS patients might represent an interesting strategy for understanding its clinical variability.http://dx.doi.org/10.1155/2014/216094 |
| spellingShingle | Lucio Tremolizzo Gessica Sala Elisa Conti Virginia Rodriguez-Menendez Antonella Fogli Angela Michelucci Paolo Simi Silvana Penco Christian Lunetta Massimo Corbo Carlo Ferrarese Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion Case Reports in Neurological Medicine |
| title | Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion |
| title_full | Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion |
| title_fullStr | Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion |
| title_full_unstemmed | Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion |
| title_short | Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion |
| title_sort | valproate treatment in an als patient carrying a c 194g a spastin mutation and smn2 homozygous deletion |
| url | http://dx.doi.org/10.1155/2014/216094 |
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