Therapy of episodic ataxias: case report and review of the literature
Episodic ataxias (EAs) are characterized by recurrent, discrete episodes of vertigo and ataxia. EA1 and EA2 are the two most common forms. In the interictal interval, myokymia is typically present in EA1, whereas EA2 patients present with interictal nystagmus. Specific pharmacological therapies...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BioExcel Publishing Ltd
2019-03-01
|
| Series: | Drugs in Context |
| Subjects: | |
| Online Access: | https://drugsincontext.com/therapy-of-episodic-ataxias:-case-report-and-review-of-the-literature |
| _version_ | 1828735901726932992 |
|---|---|
| author | Daniele Orsucci Laura Maria Raglione Monica Mazzoni Marco Vista |
| author_facet | Daniele Orsucci Laura Maria Raglione Monica Mazzoni Marco Vista |
| author_sort | Daniele Orsucci |
| collection | DOAJ |
| description | Episodic ataxias (EAs) are characterized by recurrent, discrete
episodes of vertigo and ataxia. EA1 and EA2 are the two most
common forms. In the interictal interval, myokymia is typically
present in EA1, whereas EA2 patients present with interictal
nystagmus. Specific pharmacological therapies are available for
EA1 and especially EA2. We briefly discuss the case of an Italian
young man with EA2, with a novel de novo CACNA1A mutation,
who in our opinion is particularly illustrative for introducing
the therapeutic approach. Acetazolamide could fully suppress
EA episodes in our patient. We also provide a perspective
review of the topic. 4-Aminopyridine is another valid treatment
option. For EA1 (and for rarer EAs), the therapeutic possibilities
are more limited. Carbamazepine is probably the treatment of
choice for EA1, but the optimal treatment plan is unknown. A
better understanding of the molecular processes involved in
the mediation of EAs will lead to more specific and efficacious
therapies for this still elusive group of disorders. |
| first_indexed | 2024-04-12T23:15:36Z |
| format | Article |
| id | doaj.art-f448fc2d5cd04c8dadf2a0a46e1ca7d5 |
| institution | Directory Open Access Journal |
| issn | 1740-4398 1740-4398 |
| language | English |
| last_indexed | 2024-04-12T23:15:36Z |
| publishDate | 2019-03-01 |
| publisher | BioExcel Publishing Ltd |
| record_format | Article |
| series | Drugs in Context |
| spelling | doaj.art-f448fc2d5cd04c8dadf2a0a46e1ca7d52022-12-22T03:12:42ZengBioExcel Publishing LtdDrugs in Context1740-43981740-43982019-03-0181610.7573/dic.212576Therapy of episodic ataxias: case report and review of the literatureDaniele OrsucciLaura Maria RaglioneMonica MazzoniMarco VistaEpisodic ataxias (EAs) are characterized by recurrent, discrete episodes of vertigo and ataxia. EA1 and EA2 are the two most common forms. In the interictal interval, myokymia is typically present in EA1, whereas EA2 patients present with interictal nystagmus. Specific pharmacological therapies are available for EA1 and especially EA2. We briefly discuss the case of an Italian young man with EA2, with a novel de novo CACNA1A mutation, who in our opinion is particularly illustrative for introducing the therapeutic approach. Acetazolamide could fully suppress EA episodes in our patient. We also provide a perspective review of the topic. 4-Aminopyridine is another valid treatment option. For EA1 (and for rarer EAs), the therapeutic possibilities are more limited. Carbamazepine is probably the treatment of choice for EA1, but the optimal treatment plan is unknown. A better understanding of the molecular processes involved in the mediation of EAs will lead to more specific and efficacious therapies for this still elusive group of disorders.https://drugsincontext.com/therapy-of-episodic-ataxias:-case-report-and-review-of-the-literatureacetazolamideataxiaCACNA1Aepisodic ataxiaepisodic ataxia type 1episodic ataxia type 2 |
| spellingShingle | Daniele Orsucci Laura Maria Raglione Monica Mazzoni Marco Vista Therapy of episodic ataxias: case report and review of the literature Drugs in Context acetazolamide ataxia CACNA1A episodic ataxia episodic ataxia type 1 episodic ataxia type 2 |
| title | Therapy of episodic ataxias: case report and review of the literature |
| title_full | Therapy of episodic ataxias: case report and review of the literature |
| title_fullStr | Therapy of episodic ataxias: case report and review of the literature |
| title_full_unstemmed | Therapy of episodic ataxias: case report and review of the literature |
| title_short | Therapy of episodic ataxias: case report and review of the literature |
| title_sort | therapy of episodic ataxias case report and review of the literature |
| topic | acetazolamide ataxia CACNA1A episodic ataxia episodic ataxia type 1 episodic ataxia type 2 |
| url | https://drugsincontext.com/therapy-of-episodic-ataxias:-case-report-and-review-of-the-literature |
| work_keys_str_mv | AT danieleorsucci therapyofepisodicataxiascasereportandreviewoftheliterature AT lauramariaraglione therapyofepisodicataxiascasereportandreviewoftheliterature AT monicamazzoni therapyofepisodicataxiascasereportandreviewoftheliterature AT marcovista therapyofepisodicataxiascasereportandreviewoftheliterature |