SCAR4
MCID: SPN288
MIFTS: 30

Spinocerebellar Ataxia, Autosomal Recessive 4 (SCAR4)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin 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
Spinocerebellar Ataxia Autosomal Recessive 4 53 29 6
Scar4 57 53 59
Scasi 57 53 59
Spinocerebellar Ataxia with Saccadic Intrusions 57 53
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:
variable severity
variable age at onset (range infancy to adulthood)
some patients become wheelchair-bound in adulthood


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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 95434Disease definitionAutosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 4, also known as spinocerebellar ataxia autosomal recessive 4, is related to perrault syndrome 1, and has symptoms including abnormal pyramidal signs, myoclonus and gait ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 4 is VPS13D (Vacuolar Protein Sorting 13 Homolog D). The drugs Triamcinolone and Pirfenidone have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and skin, and related phenotypes are dysarthria and myoclonus

OMIM : 57 SCAR4 is an autosomal recessive neurologic disorder characterized by abnormal movements. Most patients have ataxic gait with spasticity and hyperreflexia of the lower limbs resulting in difficulty walking. The age at onset is highly variable: some have onset in early childhood with delayed walking, whereas others have onset of gait difficulties in adulthood. Additional features may include dysarthria, oculomotor abnormalities, distal sensory impairment, dystonia, chorea, hypotonia, pyramidal signs, and cerebellar atrophy on brain imaging. The disorder is slowly progressive. Some patients with onset in childhood may have global developmental delay with mild intellectual disability (summary by Seong et al., 2018). (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 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 1 11.1

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 4

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
difficulty reading
overshooting horizontal saccades
macrosaccadic oscillations
increased velocity of larger saccades

Skeletal Feet:
pes cavus

Head And Neck Head:
microcephaly (in some patients)

Neurologic Central Nervous System:
spasticity
dysarthria
tremor
hyperreflexia
dystonia
more
Muscle Soft Tissue:
distal muscle weakness
distal muscle atrophy
axial hypotonia
abnormal mitochondria seen on muscle biopsy

Neurologic Peripheral Nervous System:
impaired distal sensation
sensorimotor axonal neuropathy


Clinical features from OMIM:

607317

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 4:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
2 myoclonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001336
3 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
4 limb ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002070
5 impaired proprioception 59 32 frequent (33%) Frequent (79-30%) HP:0010831
6 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
7 fasciculations 59 32 frequent (33%) Frequent (79-30%) HP:0002380
8 dyslexia 59 32 frequent (33%) Frequent (79-30%) HP:0010522
9 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
10 truncal ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002078
11 sensorimotor neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007141
12 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
13 abnormal lower motor neuron morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002366
14 abnormal visual fixation 59 32 hallmark (90%) Very frequent (99-80%) HP:0025404
15 hypermetric saccades 59 32 frequent (33%) Frequent (79-30%) HP:0007338
16 abnormality of eye movement 59 Frequent (79-30%)
17 ataxia 32 HP:0001251
18 hyperreflexia 32 HP:0001347
19 abnormal pyramidal signs 59 Very frequent (99-80%)
20 babinski sign 32 HP:0003487
21 abnormality of saccadic eye movements 59 Frequent (79-30%)
22 peripheral axonal neuropathy 32 HP:0003477
23 sensory impairment 59 Very frequent (99-80%)
24 upper motor neuron dysfunction 59 Very frequent (99-80%)
25 abnormal pyramidal sign 32 hallmark (90%) HP:0007256

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 4:


abnormal pyramidal signs, myoclonus, gait ataxia, muscular fasciculation

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
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
2
Pirfenidone Approved, Investigational Phase 3 53179-13-8 40632
3 Analgesics Phase 3
4 Anti-Inflammatory Agents, Non-Steroidal Phase 3
5 Analgesics, Non-Narcotic Phase 3
6 Immunosuppressive Agents Phase 3
7 Immunologic Factors Phase 3
8 Hormone Antagonists Phase 3
9 Antirheumatic Agents Phase 3
10 Hormones Phase 3
11 Anti-Inflammatory Agents Phase 3
12 Peripheral Nervous System Agents Phase 3
13 triamcinolone acetonide Phase 3
14 glucocorticoids Phase 3
15 Triamcinolone hexacetonide Phase 3
16 Triamcinolone diacetate Phase 3
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3

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 SIL-TEP vs TEP for Inguinal Hernia Repair in Day Surgery Unknown status NCT02415543 Not Applicable
3 Multiplex Laser vs. PDL (Pulsed Dye Laser ) in the Treatment of Surgical Scars Completed NCT02472405 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, Brain, Skin, Liver

Publications for Spinocerebellar Ataxia, Autosomal Recessive 4

Variations for Spinocerebellar Ataxia, Autosomal Recessive 4

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 4:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 VPS13D NM_015378.4(VPS13D): c.3569G> A (p.Gly1190Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 12277157: 12277157
2 VPS13D NM_015378.4(VPS13D): c.3569G> A (p.Gly1190Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 12337214: 12337214
3 VPS13D NM_015378.4(VPS13D): c.3316C> T (p.Gln1106Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 12276904: 12276904
4 VPS13D NM_015378.4(VPS13D): c.3316C> T (p.Gln1106Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 12336961: 12336961
5 VPS13D NM_015378.4(VPS13D): c.12629C> T (p.Ala4210Val) single nucleotide variant Pathogenic rs746736545 GRCh38 Chromosome 1, 12460363: 12460363
6 VPS13D NM_015378.4(VPS13D): c.12629C> T (p.Ala4210Val) single nucleotide variant Pathogenic rs746736545 GRCh37 Chromosome 1, 12520418: 12520418
7 VPS13D NM_015378.4(VPS13D): c.5409C> A (p.Tyr1803Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 12283511: 12283511
8 VPS13D NM_015378.4(VPS13D): c.5409C> A (p.Tyr1803Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 12343568: 12343568
9 VPS13D NP_056193.2: p.Val2445Glufs deletion Pathogenic GRCh38 Chromosome 1, 12318255: 12318256
10 VPS13D NP_056193.2: p.Val2445Glufs deletion Pathogenic GRCh37 Chromosome 1, 12378312: 12378313
11 VPS13D NP_056193.2: p.Asn3521Ser single nucleotide variant Pathogenic GRCh37 Chromosome 1, 12428636: 12428636
12 VPS13D NP_056193.2: p.Asn3521Ser single nucleotide variant Pathogenic GRCh38 Chromosome 1, 12368581: 12368581
13 VPS13D NP_056193.2: p.Arg4228Gln single nucleotide variant Pathogenic GRCh37 Chromosome 1, 12557574: 12557574
14 VPS13D NP_056193.2: p.Arg4228Gln single nucleotide variant Pathogenic GRCh38 Chromosome 1, 12497520: 12497520

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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