EA4
MCID: EPS037
MIFTS: 31

Episodic Ataxia, Type 4 (EA4)

Categories: Ear diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Episodic Ataxia, Type 4

MalaCards integrated aliases for Episodic Ataxia, Type 4:

Name: Episodic Ataxia, Type 4 58 74
Periodic Vestibulocerebellar Ataxia 58 60
Episodic Ataxia Type 4 12 60
Patx 58 60
Periodic Vestibulocerebellar Ataxia; Patx 58
Ataxia, Periodic Vestibulocerebellar 58
Ea4 58

Characteristics:

Orphanet epidemiological data:

60
episodic ataxia type 4
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
age of onset 30 to 60 years
symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours
attacks are not responsive to acetazolamide


HPO:

33
episodic ataxia, type 4:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050992
OMIM 58 606552
ICD10 via Orphanet 35 G11.8
UMLS via Orphanet 75 C1847843
Orphanet 60 ORPHA79136
MedGen 43 C1847843
UMLS 74 C1847843

Summaries for Episodic Ataxia, Type 4

Disease Ontology : 12 An episodic ataxia that is characterized by vertigo and diplopia.

MalaCards based summary : Episodic Ataxia, Type 4, also known as periodic vestibulocerebellar ataxia, is related to episodic ataxia, and has symptoms including ataxia, vertigo and tinnitus. The drugs Glucagon and Hormones have been mentioned in the context of this disorder. Affiliated tissues include brain, colon and prostate, and related phenotypes are ataxia and diplopia

Description from OMIM: 606552

Related Diseases for Episodic Ataxia, Type 4

Diseases in the Episodic Ataxia family:

Episodic Ataxia, Type 2 Episodic Ataxia, Type 1
Episodic Ataxia, Type 4 Episodic Ataxia, Type 3
Episodic Ataxia, Type 7 Episodic Ataxia, Type 6
Episodic Ataxia, Type 5 Episodic Ataxia, Type 8

Diseases related to Episodic Ataxia, Type 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 episodic ataxia 10.0

Symptoms & Phenotypes for Episodic Ataxia, Type 4

Human phenotypes related to Episodic Ataxia, Type 4:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 diplopia 60 33 frequent (33%) Frequent (79-30%) HP:0000651
3 vertigo 60 33 frequent (33%) Frequent (79-30%) HP:0002321
4 frequent falls 60 33 frequent (33%) Frequent (79-30%) HP:0002359
5 postural instability 60 33 frequent (33%) Frequent (79-30%) HP:0002172
6 abnormality of ocular smooth pursuit 60 33 frequent (33%) Frequent (79-30%) HP:0000617
7 abnormal head movements 60 33 frequent (33%) Frequent (79-30%) HP:0002457
8 gaze-evoked nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000640
9 nausea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002018
10 spasticity 33 HP:0001257
11 tinnitus 33 HP:0000360
12 incoordination 60 Frequent (79-30%)
13 episodic ataxia 33 HP:0002131
14 esophoria 33 HP:0025312

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
diplopia
gaze-evoked nystagmus
esophoria
oscillopsia
abnormal smooth pursuits
more
Head And Neck Ears:
tinnitus

Neurologic Central Nervous System:
spasticity
vertigo
ataxia, episodic

Abdomen Gastrointestinal:
nausea

Clinical features from OMIM:

606552

UMLS symptoms related to Episodic Ataxia, Type 4:


ataxia, vertigo, tinnitus, nausea, muscle spasticity

Drugs & Therapeutics for Episodic Ataxia, Type 4

Drugs for Episodic Ataxia, Type 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glucagon Approved Phase 3 16941-32-5
2 Hormones Phase 3,Phase 2
3 Glucagon-Like Peptide 1 Phase 3
4 Incretins Phase 3
5 Hormone Antagonists Phase 3,Phase 2
6 Insulin, Globin Zinc Phase 3,Not Applicable
7 insulin Phase 3,Not Applicable
8 Gastrointestinal Agents Phase 3
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
10
Estramustine Approved, Investigational Phase 2 2998-57-4 259331 18140
11
Leuprolide Approved, Investigational Phase 2 53714-56-0 657181 3911
12
Goserelin Approved Phase 2 65807-02-5 5311128 47725
13
Carboplatin Approved Phase 2 41575-94-4 38904 10339178 498142
14
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
15
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
16
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
17
Mercaptopurine Approved Phase 2 50-44-2 667490
18
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
19
Lenograstim Approved, Investigational Phase 2 135968-09-1
20
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
21
Cytarabine Approved, Experimental, Investigational Phase 2 147-94-4, 65-46-3 6253
22
Daunorubicin Approved Phase 2 20830-81-3 30323
23
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
24
Allopurinol Approved Phase 2 315-30-0 2094
25
leucovorin Approved Phase 2 58-05-9 6006 143
26
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
27
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
28 Antineoplastic Agents, Phytogenic Phase 2
29 Fertility Agents Phase 2
30 Antineoplastic Agents, Hormonal Phase 2
31 Albumin-Bound Paclitaxel Phase 2
32 Alkylating Agents Phase 2
33 Antimitotic Agents Phase 2
34 Androgens Phase 2
35 Antineoplastic Agents, Alkylating Phase 2
36 Antiviral Agents Phase 2
37
asparaginase Phase 2
38 Anti-Bacterial Agents Phase 2
39 Antidotes Phase 2
40 Anti-Inflammatory Agents Phase 2
41 Antioxidants Phase 2
42 Free Radical Scavengers Phase 2
43 Antimetabolites Phase 2
44 Vitamin B Complex Phase 2
45 Anti-Infective Agents Phase 2
46 Immunosuppressive Agents Phase 2
47 Antibiotics, Antitubercular Phase 2
48 Nucleic Acid Synthesis Inhibitors Phase 2
49 Topoisomerase Inhibitors Phase 2
50 Immunologic Factors Phase 2

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 Exercise in Patients With a Biventricular Pacemaker Unknown status NCT00905944 Phase 2, Phase 3
2 Exercise During Chemotherapy for Patients With Hematological Malignancies Unknown status NCT00884364 Phase 3
3 Cognitive Function After Stem Cell Transplantation Unknown status NCT00884338 Phase 3
4 Exercise Following Autologous Peripheral Blood Stem Cell Transplantation Unknown status NCT00883961 Phase 3
5 Exercise During the Allogeneic Stem Cell Transplantation Unknown status NCT00883714 Phase 3
6 Glucagon Modulation of Ghrelin Secretion Unknown status NCT00929812 Phase 3 Glucagon hydrochloride (GlucaGen®);NaCl 0.9%
7 Transcranial Direct Current Stimulation and the Interaction Between Chronic Pain and the Intestinal Epithelial Barrier in Patients With Chronic Inflammatory Bowel Diseases (IBD) Recruiting NCT03825900 Phase 3
8 Association Between Functional Changes in the Brain and the Perception of Pain in Patients With Inflammatory Bowel Diseases (IBD) - Measured With Functional Magnetic Resonance Imaging. Recruiting NCT03348852 Phase 2, Phase 3
9 Transcranial Direct Current Stimulation to Reduce Chronic Pain in Patients With Chronic Inflammatory Bowel Diseases Completed NCT02048137 Phase 2
10 Association of Functional Changes in the Brain and the Perception of Pain in Patients With Chronic Inflammatory Bowel Diseases (IBD) Completed NCT02433470 Phase 2
11 Chemotherapy, Hormone Therapy, and Radiation Therapy in Treating Patients With Locally Advanced Prostate Cancer Completed NCT00016913 Phase 2 carboplatin;estramustine;paclitaxel;leuprolide or goserelin acetate
12 Combination Chemotherapy in Treating Patients With Untreated Acute Lymphoblastic Leukemia Completed NCT00003700 Phase 2 asparaginase;cyclophosphamide;cytarabine;daunorubicin hydrochloride;leucovorin calcium;mercaptopurine;methotrexate;prednisone;vincristine sulfate;Allopurinol
13 Placebo Effects on Blood Pressure Unknown status NCT00570271 Not Applicable
14 TDCS in Acute Stroke Unknown status NCT01701713 Not Applicable
15 Side-to-end Anastomosis Versus Colon J Pouch for Reconstruction After Low Anterior Resection for Rectal Cancer (SAVE) Unknown status NCT01006577 Not Applicable
16 Metabolic Changes Induced by Genetically Modified Potatoes Unknown status NCT00953966 Not Applicable
17 Long Time Metabolic Changes Induced by Genetically Modified Potatoes Unknown status NCT00953602 Not Applicable
18 Burning Mouth Disorder (BMD) - A Neuropathic Pain Disorder Unknown status NCT00504387
19 Annexin A3 (ANXA3) as Protein-Based Marker for Non-Invasive Molecular Diagnostics of Prostate Carcinoma Unknown status NCT00400894
20 Action of Caffeinated and Decaffeinated Espresso on Autonomic Function Terminated NCT00576030 Not Applicable
21 Comprehensive Assessment of the Musculoskeletal System Completed NCT02156011
22 Temporary Clipping of the Uterine Arteries During Laparoscopic Myomectomy Completed NCT01530802 Not Applicable
23 Cardiomyocyte Injury Following Acute Ischemic Stroke Not yet recruiting NCT03892226
24 Clinical Observational Study: IBD Patients With Restless-legs-syndrome and Iron Deficiency Syndrome Completed NCT03457571
25 Information Recall on Informed Consent to Intravenous Thrombolysis in Patients With Acute Ischaemic Stroke. Recruiting NCT03246256
26 Emergency Department Utilization in Germany Recruiting NCT03224078
27 Chemotherapy-induced Cognitive Alterations in Recruits With Ovarian and Breast Cancer Recruiting NCT02753036 Paclitaxel
28 Retinoic Acid Homeostasis in Neuropsychiatric Diseases Recruiting NCT02439099
29 Prevalence of Cachexia in Patients Undergoing Chemotherapy Completed NCT01939340
30 Non-invasive Brain Stimulation for Auditory Verbal Hallucinations in Schizophrenia Completed NCT01801787 Not Applicable
31 Cardiac MRI in Ischemic Stroke Study Completed NCT01917955
32 DNA Double-strand Breaks After SPECT Completed NCT01380821
33 Berlin Beat of Running Study Completed NCT01428778
34 Troponin Elevation in Acute Ischemic Stroke (TRELAS) Completed NCT01263964
35 Need for Subcutaneous Wound Drains in Ileostomy Reversal Completed NCT01050686 Not Applicable
36 REDWIL: Reduction of Wound Infections in Laparoscopic Colon Resections by Wound Protectors Completed NCT01049971 Not Applicable
37 Ketoacidosis in Individuals With Type I Diabetes Mellitus (T1DM) Completed NCT00970567 Not Applicable
38 Hormonal and Metabolic Effects of Weight Loss Completed NCT00953264 Not Applicable
39 Patient Satisfaction in Stroke Patients Completed NCT00994409
40 Effects of Intense Aerobic Exercise on the Cerebrovascular Reserve Capacity in Patients With Hemodynamically Relevant Intra- and Extracranial Stenoses Terminated NCT00912561 Not Applicable
41 Sports in Hypertension of the Elderly Completed NCT00315224 Not Applicable
42 Validation and Optimization of the Individual Benefits of Locating Systems in Dementia Care Completed NCT02893800 Not Applicable
43 Referral Recommendations for Axial Spondyloarthritis Completed NCT00383617
44 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Episodic Ataxia, Type 4

Genetic Tests for Episodic Ataxia, Type 4

Anatomical Context for Episodic Ataxia, Type 4

MalaCards organs/tissues related to Episodic Ataxia, Type 4:

42
Brain, Colon, Prostate, Breast

Publications for Episodic Ataxia, Type 4

Articles related to Episodic Ataxia, Type 4:

# Title Authors Year
1
Neuropathology in a case of episodic ataxia type 4. ( 26264377 )
2015
2
Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. ( 8929156 )
1996

Variations for Episodic Ataxia, Type 4

Expression for Episodic Ataxia, Type 4

Search GEO for disease gene expression data for Episodic Ataxia, Type 4.

Pathways for Episodic Ataxia, Type 4

GO Terms for Episodic Ataxia, Type 4

Sources for Episodic Ataxia, Type 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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