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Type 2 Episodic Ataxia

The most common form of episodic ataxia, a genetically heterogeneous condition characterized by episodes of incoordiantion and imbalance similar to progressive ataxia. Episodic ataxia 2 exhibits autosomal dominant inheritance and is further characterized by onset in childhood or adolescence and the occurence of nystagmus, TINNITUS; MIGRAINE HEADACHE, and other neurologic symptoms. Episodes are often triggered by sudden movements, fatigue, stress, stimulant or alcohol use and may be treated by ACETAZOLAMIDE. Mutations in the CACNA1A gene have been identified. OMIM: 108500
Also Known As:
Episodic Ataxia, Type 2; Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; Acetazolamide-responsive episodic ataxia syndrome; Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia; Ataxia, Episodic, With Nystagmus; Ataxia, Familial Paroxysmal; Ataxia, familial, paroxysmal; Cerebellar ataxia, paroxysmal, Acetazolamide-responsive; Cerebellopathy, hereditary paroxysmal; Episodic Ataxia, Nystagmus-Associated; Episodic ataxia type 2; Episodic ataxia with nystagmus; Nystagmus-associated episodic ataxia
Networked: 132 relevant articles (14 outcomes, 12 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Migraine with Aura (Familial Hemiplegic Migraine)
2. Ataxia (Dyssynergia)
3. Epilepsy (Aura)
4. Cerebellar Diseases (Cerebellar Syndrome)
5. Vestibular Neuronitis (Vestibular Neuritis)

Experts

1. Strupp, Michael: 18 articles (08/2021 - 02/2006)
2. Brandt, Thomas: 10 articles (04/2015 - 02/2006)
3. Strupp, M: 9 articles (12/2020 - 05/2004)
4. Brandt, T: 5 articles (01/2018 - 05/2004)
5. Teufel, Julian: 4 articles (08/2021 - 02/2013)
6. Feil, K: 4 articles (04/2020 - 04/2014)
7. Kalla, Roger: 4 articles (01/2019 - 01/2008)
8. Schöls, Ludger: 3 articles (08/2021 - 04/2014)
9. Teufel, J: 3 articles (01/2018 - 04/2014)
10. Zwergal, A: 3 articles (01/2018 - 09/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 2 Episodic Ataxia:
1. 4-Aminopyridine (4 Aminopyridine)FDA Link
2. Acetazolamide (Diamox)FDA LinkGeneric
3. AminopyridinesIBA
4. Calcium Channels (Calcium Channel)IBA
5. Potassium Channel Blockers (Blockers, Potassium Channel)IBA
6. Betahistine (Serc)IBA
01/01/2013 - "Considerable advances have been made in the treatment of vertigo disorders in the last 10 years, e.g., cortisone for the treatment of acute vestibular neuritis, betahistine as a high-dosage, long-term treatment for Menière's disease, carbamazepine to treat vestibular paroxysmia and aminopyridine for downbeat nystagmus and episodic ataxia type 2."
12/01/2015 - "for acute unilateral vestibulopathy (corticosteroids) and Menière's disease (transtympanic administration of gentamicin or steroids and high-dose betahistine therapy); placebo-controlled pharmacotherapy studies are currently being carried out for acute unilateral vestibulopathy, vestibular paroxysmia, prophylaxis of BPPV, vestibular migraine, episodic ataxia type 2 and cerebellar ataxia; 3) psychotherapy for functional dizziness. "
07/01/2009 - "In vestibular neuritis, recovery of the peripheral vestibular function can be improved by oral corticosteroids; in Menière's disease, there is first evidence that high-dose, long-term administration of betahistine reduces attack frequency; carbamazepine or oxcarbamazepine is the treatment of first choice in vestibular paroxysmia, a disorder mainly caused by neurovascular cross-compression; the potassium channel blocker aminopyridine provides a new therapeutic principle for treatment of downbeat nystagmus, upbeat nystagmus, and episodic ataxia type 2."
03/01/2011 - "Examples of such causal therapy include aminopyridines for downbeat nystagmus and episodic ataxia type 2; carbamazepine for vestibular paroxysmia, paroxsymal dysarthria and ataxia in multiple sclerosis, and superior oblique myokymia; betahistine, dexamethasone, and gentamicin for Menière's disease; gabapentin and memantine for different forms of acquired and congenital nystagmus; corticosteroids for acute vestibular neuritis and Cogan's syndrome; metoprolol and topiramate for vestibular migraine; and selective serotonin reuptake inhibitors such as paroxetine for phobic postural vertigo. "
7. Adrenal Cortex Hormones (Corticosteroids)IBA
12/01/2015 - "for acute unilateral vestibulopathy (corticosteroids) and Menière's disease (transtympanic administration of gentamicin or steroids and high-dose betahistine therapy); placebo-controlled pharmacotherapy studies are currently being carried out for acute unilateral vestibulopathy, vestibular paroxysmia, prophylaxis of BPPV, vestibular migraine, episodic ataxia type 2 and cerebellar ataxia; 3) psychotherapy for functional dizziness. "
07/01/2009 - "In vestibular neuritis, recovery of the peripheral vestibular function can be improved by oral corticosteroids; in Menière's disease, there is first evidence that high-dose, long-term administration of betahistine reduces attack frequency; carbamazepine or oxcarbamazepine is the treatment of first choice in vestibular paroxysmia, a disorder mainly caused by neurovascular cross-compression; the potassium channel blocker aminopyridine provides a new therapeutic principle for treatment of downbeat nystagmus, upbeat nystagmus, and episodic ataxia type 2."
03/01/2011 - "Examples of such causal therapy include aminopyridines for downbeat nystagmus and episodic ataxia type 2; carbamazepine for vestibular paroxysmia, paroxsymal dysarthria and ataxia in multiple sclerosis, and superior oblique myokymia; betahistine, dexamethasone, and gentamicin for Menière's disease; gabapentin and memantine for different forms of acquired and congenital nystagmus; corticosteroids for acute vestibular neuritis and Cogan's syndrome; metoprolol and topiramate for vestibular migraine; and selective serotonin reuptake inhibitors such as paroxetine for phobic postural vertigo. "
8. Ion Channels (Ion Channel)IBA
12/01/2010 - "Episodic ataxia type 2 and familial hemiplegic migraine are two rare hereditary disorders that are linked to dysfunctional ion channels and are characterized clinically by paroxysmal neurological symptoms. "
02/01/2001 - "This review evaluates the success of this approach in explaining the mechanisms of two forms of episodic ataxia that are known to be caused by mutations of ion channels: episodic ataxia type 1 (EA1, caused by K+ channel mutations) and episodic ataxia type 2 (EA2, caused by Ca2+ channel mutations). "
01/01/1998 - "Recently, three human diseases (familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia 6) were added to the growing list of ion-channel disorders, all caused by different mutations in the P/Q-type Ca2+ channel alpha 1 subunit. "
03/01/2003 - "Acetazolamide, which is thought to ameliorate ion channel function, was shown effective in familial hemiplegic migraine and episodic ataxia type 2, both of which are associated with mutations of the neuronal Ca2+-channel gene CACNA1A, as well as in aura status. "
12/01/2000 - "Neuronal potassium channelopathies can cause familial benign neonatal convulsions and episodic ataxia type 1. Finally, neuronal calcium channelopathies can cause episodic ataxia type 2, familial hemiplegic migraine and spinocerebellar ataxia type 6. The clinical features, aetiology and pathogenesis of inherited voltage-gated ion channel disorders affecting muscle and the central nervous system are reviewed here."
9. Carbamazepine (Tegretol)FDA LinkGeneric
01/01/2019 - "Expert opinion: After secondary paroxysmal dyskinesias, the most common paroxysmal movement disorders are likely to be PRRT2-associated paroxysmal kinesigenic dyskinesias, which respond well to small doses of carbamazepine, and episodic ataxia type 2, which often responds to acetazolamide. "
01/01/2013 - "Considerable advances have been made in the treatment of vertigo disorders in the last 10 years, e.g., cortisone for the treatment of acute vestibular neuritis, betahistine as a high-dosage, long-term treatment for Menière's disease, carbamazepine to treat vestibular paroxysmia and aminopyridine for downbeat nystagmus and episodic ataxia type 2."
07/01/2009 - "In vestibular neuritis, recovery of the peripheral vestibular function can be improved by oral corticosteroids; in Menière's disease, there is first evidence that high-dose, long-term administration of betahistine reduces attack frequency; carbamazepine or oxcarbamazepine is the treatment of first choice in vestibular paroxysmia, a disorder mainly caused by neurovascular cross-compression; the potassium channel blocker aminopyridine provides a new therapeutic principle for treatment of downbeat nystagmus, upbeat nystagmus, and episodic ataxia type 2."
03/01/2011 - "Examples of such causal therapy include aminopyridines for downbeat nystagmus and episodic ataxia type 2; carbamazepine for vestibular paroxysmia, paroxsymal dysarthria and ataxia in multiple sclerosis, and superior oblique myokymia; betahistine, dexamethasone, and gentamicin for Menière's disease; gabapentin and memantine for different forms of acquired and congenital nystagmus; corticosteroids for acute vestibular neuritis and Cogan's syndrome; metoprolol and topiramate for vestibular migraine; and selective serotonin reuptake inhibitors such as paroxetine for phobic postural vertigo. "
10. Levetiracetam (Keppra)FDA LinkGeneric

Therapies and Procedures

1. Off-Label Use
2. Optical Devices
3. Contact Lenses
4. Microelectrodes
5. Drug Therapy (Chemotherapy)