A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine
Abstract Background To describe a patient with sleep alleviated episodic ataxia type 2 with a novel CACNA1A pathogenic variant and provide a possible link to sleep responsive migraine. Case presentation A 26-year-old woman with recurrent attacks of dizziness, nausea, vomiting, ataxia and dysarthria...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2019-10-01
|
| Series: | BMC Neurology |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12883-019-1491-3 |
| _version_ | 1819016623115206656 |
|---|---|
| author | Abhimanyu S. Ahuja Todd D. Rozen Paldeep S. Atwal |
| author_facet | Abhimanyu S. Ahuja Todd D. Rozen Paldeep S. Atwal |
| author_sort | Abhimanyu S. Ahuja |
| collection | DOAJ |
| description | Abstract Background To describe a patient with sleep alleviated episodic ataxia type 2 with a novel CACNA1A pathogenic variant and provide a possible link to sleep responsive migraine. Case presentation A 26-year-old woman with recurrent attacks of dizziness, nausea, vomiting, ataxia and dysarthria presented for a possible diagnosis of vestibular migraine. Unique to her attacks was if she could fall asleep for as little as 15 min the spells would subside. If however she remained awake the attacks would continue unabated. A presumed diagnosis of episodic ataxia type 2 was made and she became attack free on acetazolamide without recurrence. Genetic testing demonstrated a novel pathogenic variant in CACNA1A on chromosome 19. This pathogenic variant has not been previously reported in the literature and is suggested to truncate the CACNA1A polypeptide by introducing a premature stop codon. Conclusion A case of episodic ataxia type 2 with a novel pathogenic variant in CACNA1A is described. Interestingly, the patient’s symptoms would completely alleviate with sleep which suggests a sleep modulated channelopathy. The mechanisms by which sleep could potentially alter this pathogenic variant are hypothesized. A potential link to sleep alleviated migraine is suggested. Further study of this novel pathogenic variant may help us understand not only how sleep can modulate episodic ataxia type 2, but also migraine. |
| first_indexed | 2024-12-21T02:50:34Z |
| format | Article |
| id | doaj.art-b6d115d8f93248a9ae13996f4cc4c563 |
| institution | Directory Open Access Journal |
| issn | 1471-2377 |
| language | English |
| last_indexed | 2024-12-21T02:50:34Z |
| publishDate | 2019-10-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj.art-b6d115d8f93248a9ae13996f4cc4c5632022-12-21T19:18:27ZengBMCBMC Neurology1471-23772019-10-011911310.1186/s12883-019-1491-3A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraineAbhimanyu S. Ahuja0Todd D. Rozen1Paldeep S. Atwal2Charles E. Schmidt College of Medicine, Florida Atlantic UniversityDepartment of Neurology, Mayo Clinic Florida, Mayo Clinic JacksonvilleClinical & Biochemical Geneticist, Atwal ClinicAbstract Background To describe a patient with sleep alleviated episodic ataxia type 2 with a novel CACNA1A pathogenic variant and provide a possible link to sleep responsive migraine. Case presentation A 26-year-old woman with recurrent attacks of dizziness, nausea, vomiting, ataxia and dysarthria presented for a possible diagnosis of vestibular migraine. Unique to her attacks was if she could fall asleep for as little as 15 min the spells would subside. If however she remained awake the attacks would continue unabated. A presumed diagnosis of episodic ataxia type 2 was made and she became attack free on acetazolamide without recurrence. Genetic testing demonstrated a novel pathogenic variant in CACNA1A on chromosome 19. This pathogenic variant has not been previously reported in the literature and is suggested to truncate the CACNA1A polypeptide by introducing a premature stop codon. Conclusion A case of episodic ataxia type 2 with a novel pathogenic variant in CACNA1A is described. Interestingly, the patient’s symptoms would completely alleviate with sleep which suggests a sleep modulated channelopathy. The mechanisms by which sleep could potentially alter this pathogenic variant are hypothesized. A potential link to sleep alleviated migraine is suggested. Further study of this novel pathogenic variant may help us understand not only how sleep can modulate episodic ataxia type 2, but also migraine.http://link.springer.com/article/10.1186/s12883-019-1491-3Episodic ataxia type 2SleepChannelopathyP/Q calcium channelHemiplegic migraineAcetazolamide |
| spellingShingle | Abhimanyu S. Ahuja Todd D. Rozen Paldeep S. Atwal A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine BMC Neurology Episodic ataxia type 2 Sleep Channelopathy P/Q calcium channel Hemiplegic migraine Acetazolamide |
| title | A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine |
| title_full | A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine |
| title_fullStr | A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine |
| title_full_unstemmed | A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine |
| title_short | A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine |
| title_sort | sleep modulated channelopathy a novel cacna1a pathogenic variant identified in episodic ataxia type 2 and a potential link to sleep alleviated migraine |
| topic | Episodic ataxia type 2 Sleep Channelopathy P/Q calcium channel Hemiplegic migraine Acetazolamide |
| url | http://link.springer.com/article/10.1186/s12883-019-1491-3 |
| work_keys_str_mv | AT abhimanyusahuja asleepmodulatedchannelopathyanovelcacna1apathogenicvariantidentifiedinepisodicataxiatype2andapotentiallinktosleepalleviatedmigraine AT todddrozen asleepmodulatedchannelopathyanovelcacna1apathogenicvariantidentifiedinepisodicataxiatype2andapotentiallinktosleepalleviatedmigraine AT paldeepsatwal asleepmodulatedchannelopathyanovelcacna1apathogenicvariantidentifiedinepisodicataxiatype2andapotentiallinktosleepalleviatedmigraine AT abhimanyusahuja sleepmodulatedchannelopathyanovelcacna1apathogenicvariantidentifiedinepisodicataxiatype2andapotentiallinktosleepalleviatedmigraine AT todddrozen sleepmodulatedchannelopathyanovelcacna1apathogenicvariantidentifiedinepisodicataxiatype2andapotentiallinktosleepalleviatedmigraine AT paldeepsatwal sleepmodulatedchannelopathyanovelcacna1apathogenicvariantidentifiedinepisodicataxiatype2andapotentiallinktosleepalleviatedmigraine |