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Episodic ataxia type 2(EA2)

MedGen UID:
314039
Concept ID:
C1720416
Disease or Syndrome
Synonyms: Acetazolamide-responsive episodic ataxia syndrome; Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia; Ataxia, familial, paroxysmal; Cerebellar ataxia, paroxysmal, Acetazolamide-responsive; Cerebellopathy, hereditary paroxysmal; EA2; Episodic ataxia with nystagmus; Nystagmus-associated episodic ataxia
SNOMED CT: Episodic ataxia type 2 (420932006); Episodic ataxia type 2 (EA2) (420932006)
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): CACNA1A (19p13.13)
 
Monarch Initiative: MONDO:0007163
OMIM®: 108500
Orphanet: ORPHA97

Definition

Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007). For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120). [from OMIM]

Additional description

From MedlinePlus Genetics
Some children with episodic ataxia have delayed development of speech or motor skills, such as standing and walking. They may also have learning difficulties.

Episodes of ataxia and other symptoms can begin anytime from early childhood to adulthood. They can be triggered by environmental factors such as stress, caffeine, alcohol, certain medications, physical activity, and illness. The duration of episodes may vary from seconds to days, and the frequency ranges from several episodes per day to one or two every few months. Between episodes, affected individuals may have no signs or symptoms. However, some continue to experience ataxia, which may worsen over time.

Researchers have identified at least 11 types of episodic ataxia, distinguished by their pattern of signs and symptoms, age of onset, length of episodes, and genetic cause.

Additionally, a muscle abnormality called myokymia or an eye abnormality called nystagmus can occur during or between episodes. Myokymia causes muscle cramping; stiffness; or continuous, fine muscle twitching that appears as rippling under the skin. Nystagmus refers to rapid, involuntary eye movements.

Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement and coordination. People with episodic ataxia have episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraines, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis that affect one side of the body (hemiplegia) may also occur during these episodes.   https://medlineplus.gov/genetics/condition/episodic-ataxia

Clinical features

From HPO
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.
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.
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.
Dystonic disorder
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Paresthesia
MedGen UID:
14619
Concept ID:
C0030554
Disease or Syndrome
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Migraine
MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Progressive cerebellar ataxia
MedGen UID:
140727
Concept ID:
C0393525
Disease or Syndrome
Cerebellar vermis atrophy
MedGen UID:
149271
Concept ID:
C0742028
Disease or Syndrome
Wasting (atrophy) of the vermis of cerebellum.
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.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Myotonia
MedGen UID:
675119
Concept ID:
C0700153
Finding
An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.
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.
Downbeat nystagmus
MedGen UID:
154401
Concept ID:
C0585544
Finding
Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.
Saccadic smooth pursuit
MedGen UID:
373096
Concept ID:
C1836479
Finding
An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.
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

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
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
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

Lemos J, Manto M
Curr Opin Neurol 2022 Feb 1;35(1):118-125. doi: 10.1097/WCO.0000000000001015. PMID: 34845147
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
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
Strupp M, Thurtell MJ, Shaikh AG, Brandt T, Zee DS, Leigh RJ
J Neurol 2011 Jul;258(7):1207-22. Epub 2011 Apr 2 doi: 10.1007/s00415-011-5999-8. PMID: 21461686Free PMC Article
Surtees R
Eur J Pediatr 2000 Dec;159 Suppl 3:S199-203. doi: 10.1007/pl00014403. PMID: 11216900

Diagnosis

Hommersom MP, van Prooije TH, Pennings M, Schouten MI, van Bokhoven H, Kamsteeg EJ, van de Warrenburg BPC
J Neurol 2022 Jun;269(6):3094-3108. Epub 2021 Nov 22 doi: 10.1007/s00415-021-10897-9. PMID: 34806130
Beh SC
J Neuroophthalmol 2019 Jun;39(2):208-219. doi: 10.1097/WNO.0000000000000791. PMID: 31094996
Fife TD
Continuum (Minneap Minn) 2017 Apr;23(2, Selected Topics in Outpatient Neurology):359-395. doi: 10.1212/CON.0000000000000450. PMID: 28375910
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
Strupp M, Thurtell MJ, Shaikh AG, Brandt T, Zee DS, Leigh RJ
J Neurol 2011 Jul;258(7):1207-22. Epub 2011 Apr 2 doi: 10.1007/s00415-011-5999-8. PMID: 21461686Free PMC Article

Therapy

Lemos J, Manto M
Curr Opin Neurol 2022 Feb 1;35(1):118-125. doi: 10.1097/WCO.0000000000001015. PMID: 34845147
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
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
Strupp M, Zwergal A, Brandt T
Neurotherapeutics 2007 Apr;4(2):267-73. doi: 10.1016/j.nurt.2007.01.014. PMID: 17395137
Strupp M, Brandt T
Curr Opin Neurol 2006 Feb;19(1):33-40. doi: 10.1097/01.wco.0000196156.00481.e1. PMID: 16415675

Prognosis

Lipman AR, Fan X, Shen Y, Chung WK
Clin Genet 2022 Oct;102(4):288-295. Epub 2022 Jun 26 doi: 10.1111/cge.14180. PMID: 35722745Free PMC Article
Brandt T, Zwergal A, Strupp M
Expert Opin Pharmacother 2009 Jul;10(10):1537-48. doi: 10.1517/14656560902976879. PMID: 19527184
Strupp M, Zwergal A, Brandt T
Neurotherapeutics 2007 Apr;4(2):267-73. doi: 10.1016/j.nurt.2007.01.014. PMID: 17395137
Jen J, Kim GW, Baloh RW
Neurology 2004 Jan 13;62(1):17-22. doi: 10.1212/01.wnl.0000101675.61074.50. PMID: 14718690
Denier C, Ducros A, Durr A, Eymard B, Chassande B, Tournier-Lasserve E
Arch Neurol 2001 Feb;58(2):292-5. doi: 10.1001/archneur.58.2.292. PMID: 11176968

Clinical prediction guides

Lipman AR, Fan X, Shen Y, Chung WK
Clin Genet 2022 Oct;102(4):288-295. Epub 2022 Jun 26 doi: 10.1111/cge.14180. PMID: 35722745Free PMC Article
Lemos J, Manto M
Curr Opin Neurol 2022 Feb 1;35(1):118-125. doi: 10.1097/WCO.0000000000001015. PMID: 34845147
Feil K, Bremova T, Muth C, Schniepp R, Teufel J, Strupp M
Cerebellum 2016 Feb;15(1):38-42. doi: 10.1007/s12311-015-0733-1. PMID: 26519380
Vincent M, Hadjikhani N
Headache 2007 Jun;47(6):820-33. doi: 10.1111/j.1526-4610.2006.00715.x. PMID: 17578530Free PMC Article
Strupp M, Zwergal A, Brandt T
Neurotherapeutics 2007 Apr;4(2):267-73. doi: 10.1016/j.nurt.2007.01.014. PMID: 17395137

Recent systematic reviews

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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