U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Episodic ataxia type 5(EA5)

MedGen UID:
356142
Concept ID:
C1866039
Disease or Syndrome
Synonym: Episodic Ataxia, Type 5
SNOMED CT: Episodic ataxia type 5 (718756005)
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.
 
Gene (location): CACNB4 (2q23.3)
 
Monarch Initiative: MONDO:0013464
OMIM®: 613855
Orphanet: ORPHA211067

Definition

An extremely rare form of hereditary episodic ataxia with characteristics of recurrent episodes of vertigo and ataxia lasting several hours. [from SNOMEDCT_US]

Clinical features

From HPO
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Febrile seizure (within the age range of 3 months to 6 years)
MedGen UID:
3232
Concept ID:
C0009952
Disease or Syndrome
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Truncal ataxia
MedGen UID:
96535
Concept ID:
C0427190
Sign or Symptom
Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Atypical absence seizure
MedGen UID:
108888
Concept ID:
C0595948
Disease or Syndrome
An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.
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.
Postural instability
MedGen UID:
334529
Concept ID:
C1843921
Finding
A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
EEG with generalized spikes
MedGen UID:
777018
Concept ID:
C2206531
Finding
EEG with generalized sharp transient waves of a duration less than 80 msec.
EEG with spike-wave complexes
MedGen UID:
869259
Concept ID:
C4023683
Finding
Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
Typical absence seizure
MedGen UID:
1790454
Concept ID:
C5551411
Disease or Syndrome
A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.
Gaze-evoked nystagmus
MedGen UID:
1808161
Concept ID:
C5574666
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.

Professional guidelines

PubMed

Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Németh AH, Jardim LB, Coarelli G, Dankova M, Traschütz A, Tarnutzer AA
Cerebellum 2024 Feb;23(1):121-135. Epub 2023 Jan 14 doi: 10.1007/s12311-023-01514-8. PMID: 36640220Free PMC Article
Dressler D, Benecke R
J Neurol 2005 Nov;252(11):1299-306. Epub 2005 Oct 10 doi: 10.1007/s00415-005-0006-x. PMID: 16208529
Geschwind DH, Perlman S, Figueroa KP, Karrim J, Baloh RW, Pulst SM
Neurology 1997 Nov;49(5):1247-51. doi: 10.1212/wnl.49.5.1247. PMID: 9371902

Recent clinical studies

Etiology

Silvetti MS, Favoccia C, Saputo FA, Tamburri I, Mizzon C, Campisi M, Gimigliano F, Rinelli G, Rava L, Drago F
Europace 2023 Apr 15;25(4):1482-1490. doi: 10.1093/europace/euad026. PMID: 36794445Free PMC Article
Graves TD, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG; CINCH Investigators
Cerebellum 2023 Aug;22(4):578-586. Epub 2022 Jun 3 doi: 10.1007/s12311-021-01360-6. PMID: 35655106Free PMC Article
Feil K, Strobl R, Schindler A, Krafczyk S, Goldschagg N, Frenzel C, Glaser M, Schöberl F, Zwergal A, Strupp M
Cerebellum 2019 Jun;18(3):320-332. doi: 10.1007/s12311-018-0992-8. PMID: 30552638
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
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

Diagnosis

Graves TD, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG; CINCH Investigators
Cerebellum 2023 Aug;22(4):578-586. Epub 2022 Jun 3 doi: 10.1007/s12311-021-01360-6. PMID: 35655106Free PMC Article
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
Choi JH, Oh EH, Choi SY, Kim HJ, Lee SK, Choi JY, Kim JS, Choi KD
J Neurol 2022 May;269(5):2687-2695. Epub 2021 Oct 28 doi: 10.1007/s00415-021-10856-4. PMID: 34709445
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
Kotagal V
Semin Neurol 2012 Nov;32(5):533-7. Epub 2013 May 15 doi: 10.1055/s-0033-1334475. PMID: 23677664

Therapy

Kalla R, Strupp M
Curr Neuropharmacol 2019;17(1):7-13. doi: 10.2174/1570159X16666180905093535. PMID: 30182858Free PMC Article
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
Kotagal V
Semin Neurol 2012 Nov;32(5):533-7. Epub 2013 May 15 doi: 10.1055/s-0033-1334475. PMID: 23677664
Dressler D, Benecke R
J Neurol 2005 Nov;252(11):1299-306. Epub 2005 Oct 10 doi: 10.1007/s00415-005-0006-x. PMID: 16208529
Calandriello L, Veneziano L, Francia A, Sabbadini G, Colonnese C, Mantuano E, Jodice C, Trettel F, Viviani P, Manfredi M, Frontali M
Brain 1997 May;120 ( Pt 5):805-12. doi: 10.1093/brain/120.5.805. PMID: 9183251

Prognosis

Graves TD, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG; CINCH Investigators
Cerebellum 2023 Aug;22(4):578-586. Epub 2022 Jun 3 doi: 10.1007/s12311-021-01360-6. PMID: 35655106Free PMC Article
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
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
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
Geschwind DH, Perlman S, Figueroa KP, Karrim J, Baloh RW, Pulst SM
Neurology 1997 Nov;49(5):1247-51. doi: 10.1212/wnl.49.5.1247. PMID: 9371902

Clinical prediction guides

Graves TD, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG; CINCH Investigators
Cerebellum 2023 Aug;22(4):578-586. Epub 2022 Jun 3 doi: 10.1007/s12311-021-01360-6. PMID: 35655106Free PMC Article
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
Coin JT, Vance JM
Mov Disord 2021 May;36(5):1264-1267. Epub 2021 Jan 16 doi: 10.1002/mds.28491. PMID: 33452831
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
Kaunisto MA, Harno H, Kallela M, Somer H, Sallinen R, Hämäläinen E, Miettinen PJ, Vesa J, Orpana A, Palotie A, Färkkilä M, Wessman M
Neurogenetics 2004 Feb;5(1):69-73. Epub 2003 Oct 7 doi: 10.1007/s10048-003-0161-0. PMID: 14530926

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...