MCID: SPN288
MIFTS: 30

Spinocerebellar Ataxia, Autosomal Recessive 4

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 4

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 4:

Name: Spinocerebellar Ataxia, Autosomal Recessive 4 57 13 73
Scar4 57 53 59
Scasi 57 53 59
Spinocerebellar Ataxia with Saccadic Intrusions 57 53
Spinocerebellar Ataxia Autosomal Recessive 4 53 29
Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome 59
Spinocerebellar Ataxia with Saccadic Intrusions; Scasi 57
Spinocerebellar Ataxia 24, Formerly; Sca24, Formerly 57
Spinocerebellar Ataxia 24, Formerly 57
Sca24, Formerly 57

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in third decade


HPO:

32
spinocerebellar ataxia, autosomal recessive 4:
Onset and clinical course adult onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 4

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 4, is also known as scar4, and has symptoms including muscular fasciculation, myoclonus and abnormal pyramidal signs. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 4 is SCASI (Spinocerebellar Ataxia With Saccadic Intrusions). The drugs Pirfenidone and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are dysarthria and abnormal pyramidal signs

Description from OMIM: 607317

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 4

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia, Autosomal Recessive 1
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia, Autosomal Recessive 4 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 18
Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia, Autosomal Recessive 8
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia 32 Spinocerebellar Ataxia 36
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia, Autosomal Recessive 14
Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 40 Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia, Autosomal Recessive 20
Spinocerebellar Ataxia 41 Spinocerebellar Ataxia, Autosomal Recessive 21
Spinocerebellar Ataxia 42 Spinocerebellar Ataxia, Autosomal Recessive 22
Spinocerebellar Ataxia, Autosomal Recessive 23 Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive 24 Spinocerebellar Ataxia, Autosomal Recessive 25
Spinocerebellar Ataxia, Autosomal Recessive 26 Spinocerebellar Ataxia 44
Spinocerebellar Ataxia 45 Spinocerebellar Ataxia 46
Spinocerebellar Ataxia 47 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 4

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
myoclonus
fasciculations
extensor plantar responses
more
Head And Neck Eyes:
difficulty reading
overshooting horizontal saccades
macrosaccadic oscillations
increased velocity of larger saccades

Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
impaired distal sensation of all modalities
sensorimotor axonal neuropathy


Clinical features from OMIM:

607317

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 4:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
2 abnormal pyramidal signs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007256
3 myoclonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001336
4 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
5 limb ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002070
6 impaired proprioception 59 32 frequent (33%) Frequent (79-30%) HP:0010831
7 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
8 fasciculations 59 32 frequent (33%) Frequent (79-30%) HP:0002380
9 dyslexia 59 32 frequent (33%) Frequent (79-30%) HP:0010522
10 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
11 truncal ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002078
12 sensorimotor neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007141
13 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
14 abnormal lower motor neuron morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002366
15 abnormal visual fixation 59 32 hallmark (90%) Very frequent (99-80%) HP:0025404
16 hypermetric saccades 59 32 frequent (33%) Frequent (79-30%) HP:0007338
17 abnormality of eye movement 59 Frequent (79-30%)
18 ataxia 32 HP:0001251
19 hyperreflexia 32 HP:0001347
20 babinski sign 32 HP:0003487
21 sensory impairment 59 Very frequent (99-80%)
22 abnormality of saccadic eye movements 59 Frequent (79-30%)
23 peripheral axonal neuropathy 32 HP:0003477
24 upper motor neuron dysfunction 59 Very frequent (99-80%)

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 4:


muscular fasciculation, myoclonus, abnormal pyramidal signs, gait ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 4

Drugs for Spinocerebellar Ataxia, Autosomal Recessive 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 3 53179-13-8 40632
2
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
3 triamcinolone acetonide Phase 3
4 Analgesics Phase 3
5 glucocorticoids Phase 3
6 Analgesics, Non-Narcotic Phase 3
7 Hormone Antagonists Phase 3
8 Triamcinolone diacetate Phase 3
9 Triamcinolone hexacetonide Phase 3
10 Hormones Phase 3
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
12 Peripheral Nervous System Agents Phase 3
13 Immunosuppressive Agents Phase 3
14 Anti-Inflammatory Agents Phase 3
15 Anti-Inflammatory Agents, Non-Steroidal Phase 3
16 Antirheumatic Agents Phase 3
17
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Intralesional Triamcinolone and 8% Topical Pirfenidone for Treatment of Keloid Scars Recruiting NCT02823236 Phase 3 Topical Pirfenidone;Triamcinolone + Pirfenidone;Intralesional Triamcinolone
2 Multiplex Laser vs. PDL (Pulsed Dye Laser ) in the Treatment of Surgical Scars Recruiting NCT02472405 Not Applicable
3 SIL-TEP vs TEP for Inguinal Hernia Repair in Day Surgery Recruiting NCT02415543 Not Applicable

Search NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 4

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 4

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 4:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Autosomal Recessive 4 29

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 4

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 4:

41
Eye

Publications for Spinocerebellar Ataxia, Autosomal Recessive 4

Variations for Spinocerebellar Ataxia, Autosomal Recessive 4

Expression for Spinocerebellar Ataxia, Autosomal Recessive 4

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 4.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 4

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 4

Sources for Spinocerebellar Ataxia, Autosomal Recessive 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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