Successful Pallidal Deep Brain Stimulation Treatment in a Case of Generalized Dystonia due to a Novel ANO3 Mutation
Background. Dystonia is a ubiquitous syndrome, with a growing number of genes being continually identified. Mutations in the anoctamin-3 gene have been described to cause dystonia but the management and long-term outcomes are still largely unknown. Methods. We present here a long term, longitudinal...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2019/3154653 |
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| author | Lizl Lasky Lindsay Bliss Christos Sidiropoulos |
| author_facet | Lizl Lasky Lindsay Bliss Christos Sidiropoulos |
| author_sort | Lizl Lasky |
| collection | DOAJ |
| description | Background. Dystonia is a ubiquitous syndrome, with a growing number of genes being continually identified. Mutations in the anoctamin-3 gene have been described to cause dystonia but the management and long-term outcomes are still largely unknown. Methods. We present here a long term, longitudinal follow up of a patient with generalized dystonia, who was treated with bilateral pallidal deep brain stimulation and was found to harbor a mutation in the anoctamin-3 gene. Results. Ongoing adjustment of stimulation settings and medications led to good and sustained dystonia control; however the patient did suffer short term relapses, manifested as dystonic crisis, which necessitated inpatient admission. Conclusion. This only the second patient to be reported with pallidal stimulation and an anoctamin-3 gene mutation. Long term outcomes seem to be favorable but larger case series are needed to confirm our findings. |
| format | Article |
| id | doaj-art-c6d0023466e9496183fa02227e6d2571 |
| institution | Kabale University |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-c6d0023466e9496183fa02227e6d25712025-02-03T06:12:33ZengWileyCase Reports in Neurological Medicine2090-66682090-66762019-01-01201910.1155/2019/31546533154653Successful Pallidal Deep Brain Stimulation Treatment in a Case of Generalized Dystonia due to a Novel ANO3 MutationLizl Lasky0Lindsay Bliss1Christos Sidiropoulos2Department of Neurology and Ophthalmology, Michigan State University, 804 Service Rd. B-411, East Lansing, MI 48824, USADepartment of Neurology and Ophthalmology, Michigan State University, 804 Service Rd. B-411, East Lansing, MI 48824, USADepartment of Neurology and Ophthalmology, Michigan State University, 804 Service Rd. B-411, East Lansing, MI 48824, USABackground. Dystonia is a ubiquitous syndrome, with a growing number of genes being continually identified. Mutations in the anoctamin-3 gene have been described to cause dystonia but the management and long-term outcomes are still largely unknown. Methods. We present here a long term, longitudinal follow up of a patient with generalized dystonia, who was treated with bilateral pallidal deep brain stimulation and was found to harbor a mutation in the anoctamin-3 gene. Results. Ongoing adjustment of stimulation settings and medications led to good and sustained dystonia control; however the patient did suffer short term relapses, manifested as dystonic crisis, which necessitated inpatient admission. Conclusion. This only the second patient to be reported with pallidal stimulation and an anoctamin-3 gene mutation. Long term outcomes seem to be favorable but larger case series are needed to confirm our findings.http://dx.doi.org/10.1155/2019/3154653 |
| spellingShingle | Lizl Lasky Lindsay Bliss Christos Sidiropoulos Successful Pallidal Deep Brain Stimulation Treatment in a Case of Generalized Dystonia due to a Novel ANO3 Mutation Case Reports in Neurological Medicine |
| title | Successful Pallidal Deep Brain Stimulation Treatment in a Case of Generalized Dystonia due to a Novel ANO3 Mutation |
| title_full | Successful Pallidal Deep Brain Stimulation Treatment in a Case of Generalized Dystonia due to a Novel ANO3 Mutation |
| title_fullStr | Successful Pallidal Deep Brain Stimulation Treatment in a Case of Generalized Dystonia due to a Novel ANO3 Mutation |
| title_full_unstemmed | Successful Pallidal Deep Brain Stimulation Treatment in a Case of Generalized Dystonia due to a Novel ANO3 Mutation |
| title_short | Successful Pallidal Deep Brain Stimulation Treatment in a Case of Generalized Dystonia due to a Novel ANO3 Mutation |
| title_sort | successful pallidal deep brain stimulation treatment in a case of generalized dystonia due to a novel ano3 mutation |
| url | http://dx.doi.org/10.1155/2019/3154653 |
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