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Episodic ataxia type 3(EA3)

MedGen UID:
376220
•Concept ID:
C1847839
•
Disease or Syndrome
Synonym: ATAXIA, EPISODIC, WITH VERTIGO AND TINNITUS
SNOMED CT: Episodic ataxia type 3 (718755009); Episodic ataxia and vertigo with tinnitus and myokymia syndrome (718755009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0011682
OMIM®: 606554
Orphanet: ORPHA79135

Definition

A very rare form of hereditary episodic ataxia with characteristics of vestibular ataxia, vertigo, tinnitus and interictal myokymia. [from SNOMEDCT_US]

Clinical features

From HPO
Nausea
MedGen UID:
10196
•Concept ID:
C0027497
•
Sign or Symptom
A sensation of unease in the stomach together with an urge to vomit.
See: Feature record | Search on this feature
Vomiting
MedGen UID:
12124
•Concept ID:
C0042963
•
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
See: Feature record | Search on this feature
Tinnitus
MedGen UID:
52760
•Concept ID:
C0040264
•
Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
See: Feature record | Search on this feature
Vertigo
MedGen UID:
53006
•Concept ID:
C0042571
•
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
See: Feature record | Search on this feature
Headache
MedGen UID:
9149
•Concept ID:
C0018681
•
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
See: Feature record | Search on this feature
Myokymia
MedGen UID:
146882
•Concept ID:
C0684219
•
Sign or Symptom
Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
See: Feature record | Search on this feature
Hereditary episodic ataxia
MedGen UID:
314033
•Concept ID:
C1720189
•
Disease or Syndrome
Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.
See: Feature record | Search on this feature
Muscle weakness
MedGen UID:
57735
•Concept ID:
C0151786
•
Finding
Reduced strength of muscles.
See: Feature record | Search on this feature
Diplopia
MedGen UID:
41600
•Concept ID:
C0012569
•
Disease or Syndrome
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Update on diagnosis and differential diagnosis of vestibular migraine.
Shen Y, Qi X
Neurol Sci 2022 Mar;43(3):1659-1666. Epub 2022 Jan 11 doi: 10.1007/s10072-022-05872-9. PMID: 35015204
Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.
Zesiewicz TA, Wilmot G, Kuo SH, Perlman S, Greenstein PE, Ying SH, Ashizawa T, Subramony SH, Schmahmann JD, Figueroa KP, Mizusawa H, Schöls L, Shaw JD, Dubinsky RM, Armstrong MJ, Gronseth GS, Sullivan KL
Neurology 2018 Mar 6;90(10):464-471. Epub 2018 Feb 9 doi: 10.1212/WNL.0000000000005055. PMID: 29440566Free PMC Article
Treatment of dizziness: an interdisciplinary update.
Spiegel R, Rust H, Baumann T, Friedrich H, Sutter R, Göldlin M, Rosin C, Müri R, Mantokoudis G, Bingisser R, Strupp M, Kalla R
Swiss Med Wkly 2017;147:w14566. Epub 2017 Dec 27 doi: 10.4414/smw.2017.14566. PMID: 29282702

Recent clinical studies

Etiology

A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.
Zhao J, Petitjean D, Haddad GA, Batulan Z, Blunck R
Int J Mol Sci 2020 Oct 14;21(20) doi: 10.3390/ijms21207602. PMID: 33066705Free PMC Article
Cognitive impairment in children with CACNA1A mutations.
Humbertclaude V, Riant F, Krams B, Zimmermann V, Nagot N, Annequin D, Echenne B, Tournier-Lasserve E, Roubertie A; Episodic Syndrome Consortium
Dev Med Child Neurol 2020 Mar;62(3):330-337. Epub 2019 May 21 doi: 10.1111/dmcn.14261. PMID: 31115040
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J
Neurology 2016 Nov 8;87(19):1975-1984. Epub 2016 Oct 12 doi: 10.1212/WNL.0000000000003309. PMID: 27733563Free PMC Article
Pharmacotherapy of vestibular disorders and nystagmus.
Strupp M, Kremmyda O, Brandt T
Semin Neurol 2013 Jul;33(3):286-96. Epub 2013 Sep 21 doi: 10.1055/s-0033-1354594. PMID: 24057832
Decreased cerebellar total creatine in episodic ataxia type 2: a 1H MRS study.
Harno H, Heikkinen S, Kaunisto MA, Kallela M, Häkkinen AM, Wessman M, Färkkilä M, Lundbom N
Neurology 2005 Feb 8;64(3):542-4. doi: 10.1212/01.WNL.0000150589.26350.3D. PMID: 15699392

Diagnosis

Update on diagnosis and differential diagnosis of vestibular migraine.
Shen Y, Qi X
Neurol Sci 2022 Mar;43(3):1659-1666. Epub 2022 Jan 11 doi: 10.1007/s10072-022-05872-9. PMID: 35015204
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
De Michele G, Galatolo D, Galosi S, Mignarri A, Silvestri G, Casali C, Leuzzi V, Ricca I, Barghigiani M, Tessa A, Cioffi E, Caputi C, Riso V, Dotti MT, Saccà F, De Michele G, Cocozza S, Filla A, Santorelli FM
J Neurol 2022 Mar;269(3):1476-1484. Epub 2021 Jul 22 doi: 10.1007/s00415-021-10712-5. PMID: 34292398Free PMC Article
Rebound upbeat nystagmus after lateral gaze in episodic ataxia type 2.
Kim HJ, Kim JS, Choi JH, Shin JH, Choi KD, Zee DS
Cerebellum 2014 Jun;13(3):411-3. doi: 10.1007/s12311-014-0547-6. PMID: 24420976
Pharmacotherapy of vestibular disorders and nystagmus.
Strupp M, Kremmyda O, Brandt T
Semin Neurol 2013 Jul;33(3):286-96. Epub 2013 Sep 21 doi: 10.1055/s-0033-1354594. PMID: 24057832
Acetazolamide-responsive ataxia.
Kotagal V
Semin Neurol 2012 Nov;32(5):533-7. Epub 2013 May 15 doi: 10.1055/s-0033-1334475. PMID: 23677664

Therapy

Late-onset episodic ataxia associated with SLC1A3 mutation.
Choi KD, Jen JC, Choi SY, Shin JH, Kim HS, Kim HJ, Kim JS, Choi JH
J Hum Genet 2017 Mar;62(3):443-446. Epub 2016 Nov 10 doi: 10.1038/jhg.2016.137. PMID: 27829685
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J
Neurology 2016 Nov 8;87(19):1975-1984. Epub 2016 Oct 12 doi: 10.1212/WNL.0000000000003309. PMID: 27733563Free PMC Article
Acetazolamide in vestibular migraine prophylaxis: a retrospective study.
Çelebisoy N, Gökçay F, Karahan C, Bilgen C, Kirazlı T, Karapolat H, Köse T
Eur Arch Otorhinolaryngol 2016 Oct;273(10):2947-51. Epub 2016 Jan 4 doi: 10.1007/s00405-015-3874-4. PMID: 26728486
Acetazolamide-responsive ataxia.
Kotagal V
Semin Neurol 2012 Nov;32(5):533-7. Epub 2013 May 15 doi: 10.1055/s-0033-1334475. PMID: 23677664
Which medication do I need to manage dizzy patients?
Huppert D, Strupp M, Mückter H, Brandt T
Acta Otolaryngol 2011 Mar;131(3):228-41. Epub 2010 Dec 13 doi: 10.3109/00016489.2010.531052. PMID: 21142898

Prognosis

Further delineation of phenotypic spectrum of SCN2A-related disorder.
Richardson R, Baralle D, Bennett C, Briggs T, Bijlsma EK, Clayton-Smith J, Constantinou P, Foulds N, Jarvis J, Jewell R, Johnson DS, McEntagart M, Parker MJ, Radley JA, Robertson L, Ruivenkamp C, Rutten JW, Tellez J, Turnpenny PD, Wilson V, Wright M, Balasubramanian M
Am J Med Genet A 2022 Mar;188(3):867-877. Epub 2021 Dec 11 doi: 10.1002/ajmg.a.62595. PMID: 34894057
Late-onset episodic ataxia associated with SLC1A3 mutation.
Choi KD, Jen JC, Choi SY, Shin JH, Kim HS, Kim HJ, Kim JS, Choi JH
J Hum Genet 2017 Mar;62(3):443-446. Epub 2016 Nov 10 doi: 10.1038/jhg.2016.137. PMID: 27829685
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J
Neurology 2016 Nov 8;87(19):1975-1984. Epub 2016 Oct 12 doi: 10.1212/WNL.0000000000003309. PMID: 27733563Free PMC Article
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
Strupp M, Kalla R, Claassen J, Adrion C, Mansmann U, Klopstock T, Freilinger T, Neugebauer H, Spiegel R, Dichgans M, Lehmann-Horn F, Jurkat-Rott K, Brandt T, Jen JC, Jahn K
Neurology 2011 Jul 19;77(3):269-75. Epub 2011 Jul 6 doi: 10.1212/WNL.0b013e318225ab07. PMID: 21734179Free PMC Article
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.
Wuttke TV, Jurkat-Rott K, Paulus W, Garncarek M, Lehmann-Horn F, Lerche H
Neurology 2007 Nov 27;69(22):2045-53. Epub 2007 Sep 13 doi: 10.1212/01.wnl.0000275523.95103.36. PMID: 17872363

Clinical prediction guides

CACNA1A variant associated with generalized dystonia.
Rinaldi D, Tangari MM, Ledda C, Dematteis F, Rizzone MG, Lopiano L, Artusi CA
Neurol Sci 2024 Sep;45(9):4589-4592. Epub 2024 May 14 doi: 10.1007/s10072-024-07592-8. PMID: 38743163
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Richardson R, Baralle D, Bennett C, Briggs T, Bijlsma EK, Clayton-Smith J, Constantinou P, Foulds N, Jarvis J, Jewell R, Johnson DS, McEntagart M, Parker MJ, Radley JA, Robertson L, Ruivenkamp C, Rutten JW, Tellez J, Turnpenny PD, Wilson V, Wright M, Balasubramanian M
Am J Med Genet A 2022 Mar;188(3):867-877. Epub 2021 Dec 11 doi: 10.1002/ajmg.a.62595. PMID: 34894057
Late-onset episodic ataxia associated with SLC1A3 mutation.
Choi KD, Jen JC, Choi SY, Shin JH, Kim HS, Kim HJ, Kim JS, Choi JH
J Hum Genet 2017 Mar;62(3):443-446. Epub 2016 Nov 10 doi: 10.1038/jhg.2016.137. PMID: 27829685
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J
Neurology 2016 Nov 8;87(19):1975-1984. Epub 2016 Oct 12 doi: 10.1212/WNL.0000000000003309. PMID: 27733563Free PMC Article
Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
Graves TD, Cha YH, Hahn AF, Barohn R, Salajegheh MK, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG; CINCH Investigators
Brain 2014 Apr;137(Pt 4):1009-18. Epub 2014 Feb 26 doi: 10.1093/brain/awu012. PMID: 24578548Free PMC Article

Recent systematic reviews

Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.
Zesiewicz TA, Wilmot G, Kuo SH, Perlman S, Greenstein PE, Ying SH, Ashizawa T, Subramony SH, Schmahmann JD, Figueroa KP, Mizusawa H, Schöls L, Shaw JD, Dubinsky RM, Armstrong MJ, Gronseth GS, Sullivan KL
Neurology 2018 Mar 6;90(10):464-471. Epub 2018 Feb 9 doi: 10.1212/WNL.0000000000005055. PMID: 29440566Free PMC Article

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