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

Joint Authors

Simi, Paolo
Sala, Gessica
Rodriguez-Menendez, Virginia
Fogli, Antonella
Tremolizzo, Lucio
Lunetta, Christian
Conti, Elisa
Michelucci, Angela
Penco, Silvana
Ferrarese, Carlo
Corbo, Massimo

Source

Case Reports in Neurological Medicine

Issue

Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-7, 7 p.

Publisher

Hindawi Publishing Corporation

Publication Date

2014-07-17

Country of Publication

Egypt

No. of Pages

7

Main Subjects

Medicine

Abstract EN

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.

American Psychological Association (APA)

Tremolizzo, Lucio& Sala, Gessica& Conti, Elisa& Rodriguez-Menendez, Virginia& Fogli, Antonella& Michelucci, Angela…[et al.]. 2014. Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion. Case Reports in Neurological Medicine،Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-455274

Modern Language Association (MLA)

Tremolizzo, Lucio…[et al.]. Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion. Case Reports in Neurological Medicine No. 2014 (2014), pp.1-7.
https://search.emarefa.net/detail/BIM-455274

American Medical Association (AMA)

Tremolizzo, Lucio& Sala, Gessica& Conti, Elisa& Rodriguez-Menendez, Virginia& Fogli, Antonella& Michelucci, Angela…[et al.]. Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion. Case Reports in Neurological Medicine. 2014. Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-455274

Data Type

Journal Articles

Language

English

Notes

Includes bibliographical references

Record ID

BIM-455274