MCID: SPN308
MIFTS: 38

Spinocerebellar Ataxia 28

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

Aliases & Classifications for Spinocerebellar Ataxia 28

MalaCards integrated aliases for Spinocerebellar Ataxia 28:

Name: Spinocerebellar Ataxia 28 53 49 71 28 13 69
Spinocerebellar Ataxia Type 28 12 23 49 55 14
Sca28 53 23 49 55 71

Characteristics:

Orphanet epidemiological data:

55
spinocerebellar ataxia type 28
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
slow progression
mean age at onset 30.7 years (range 6 to 60 years)


HPO:

31
spinocerebellar ataxia 28:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 610246
Disease Ontology 12 DOID:0050977
Orphanet 55 ORPHA101109
MESH via Orphanet 42 C537205
UMLS via Orphanet 70 C1853249
ICD10 via Orphanet 33 G11.1
MedGen 39 C1853249
MeSH 41 D020754
UMLS 69 C1853249

Summaries for Spinocerebellar Ataxia 28

NIH Rare Diseases : 49 Spinocerebellar ataxia 28 (SCA28)is a slowly progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms include problems with coordination and balance when walking (gait ataxia), speech and swallowing difficulties (dysarthria), over-reactive reflex reactions in knees and ankles (hyperreflexia), weakness in the muscles that control eye movement (ophthalmoparesis), uncontrolled movement of the eye (nystagmus) and drooping eyelid (ptosis). The symptoms worsen very slowly over time. SCA28 is caused by changes in the AFG3L2 gene and is inherited in an autosomal dominant fashion. There is currently not a cure for SCA28, but treatments are available to help manage symptoms. Last updated: 5/17/2016

MalaCards based summary : Spinocerebellar Ataxia 28, also known as spinocerebellar ataxia type 28, is related to autosomal dominant cerebellar ataxia and hereditary ataxia, and has symptoms including dystonia, ophthalmoparesis and gait ataxia. An important gene associated with Spinocerebellar Ataxia 28 is AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Long-term depression. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are behavior/neurological and growth/size/body region

UniProtKB/Swiss-Prot : 71 Spinocerebellar ataxia 28: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment.

Description from OMIM: 610246
GeneReviews: NBK54582

Related Diseases for Spinocerebellar Ataxia 28

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 Type 16 Spinocerebellar Ataxia Type 19/22
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 28 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 28.0 AFG3L2 FGF14 KCNC3 PDYN PRKCG TTBK2
2 hereditary ataxia 10.1 AFG3L2 SPG7
3 encephalopathy, familial, with neuroserpin inclusion bodies 10.1 KCNC3 TTBK2
4 spastic ataxia 10.0 AFG3L2 SPG7
5 spinocerebellar ataxia 11 10.0 PRKCG TTBK2
6 ataxia and polyneuropathy, adult-onset 9.9
7 spinocerebellar ataxia 15 9.9 KCNC3 PDYN
8 spastic paraplegia 7, autosomal recessive 9.9 AFG3L2 IMPACT SPG7
9 spinocerebellar ataxia 27 9.8 FGF14 GRM1
10 aceruloplasminemia 9.5 KCNC3 PDYN PRKCG
11 cerebellar disease 9.5 PDYN PRKCG

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 28:



Diseases related to Spinocerebellar Ataxia 28

Symptoms & Phenotypes for Spinocerebellar Ataxia 28

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
gait ataxia
spasticity
dysarthria
limb ataxia
cerebellar atrophy
more
Head And Neck Eyes:
gaze-evoked nystagmus
dysmetric saccades
eye movement abnormalities
smooth pursuit abnormalities
slow saccades (with longer disease duration)
more

Clinical features from OMIM:

610246

Human phenotypes related to Spinocerebellar Ataxia 28:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 dystonia 31 occasional (7.5%) HP:0001332
2 ophthalmoparesis 31 HP:0000597
3 gait ataxia 31 HP:0002066
4 ptosis 31 HP:0000508
5 spasticity 31 HP:0001257
6 dysarthria 31 HP:0001260
7 limb ataxia 31 HP:0002070
8 babinski sign 31 HP:0003487
9 cerebellar atrophy 31 HP:0001272
10 parkinsonism 31 occasional (7.5%) HP:0001300
11 slow saccadic eye movements 31 HP:0000514
12 lower limb hyperreflexia 31 HP:0002395
13 gaze-evoked nystagmus 31 HP:0000640
14 dysmetric saccades 31 HP:0000641

UMLS symptoms related to Spinocerebellar Ataxia 28:


gait ataxia, muscle spasticity

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 28:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 AFG3L2 FGF14 GRM1 KCNC3 PDYN PRKCG
2 growth/size/body region MP:0005378 9.5 SPG7 TTBK2 AFG3L2 FGF14 GRM1 KCNC3
3 nervous system MP:0003631 9.23 AFG3L2 FGF14 GRM1 KCNC3 PDYN PRKCG

Drugs & Therapeutics for Spinocerebellar Ataxia 28

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 28

Genetic Tests for Spinocerebellar Ataxia 28

Genetic tests related to Spinocerebellar Ataxia 28:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 28 28 AFG3L2

Anatomical Context for Spinocerebellar Ataxia 28

MalaCards organs/tissues related to Spinocerebellar Ataxia 28:

38
Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 28

Articles related to Spinocerebellar Ataxia 28:

# Title Authors Year
1
Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing. ( 26677414 )
2015

Variations for Spinocerebellar Ataxia 28

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 28:

71 (show all 13)
# Symbol AA change Variation ID SNP ID
1 AFG3L2 p.Asn432Thr VAR_063544 rs151344512
2 AFG3L2 p.Glu691Lys VAR_063545 rs151344520
3 AFG3L2 p.Ala694Glu VAR_063546 rs151344521
4 AFG3L2 p.Arg702Gln VAR_063547 rs151344523
5 AFG3L2 p.Thr654Ile VAR_064402 rs151344513
6 AFG3L2 p.Met666Arg VAR_064403 rs151344515
7 AFG3L2 p.Met666Thr VAR_064404 rs151344515
8 AFG3L2 p.Met666Val VAR_064405 rs151344514
9 AFG3L2 p.Gly671Glu VAR_064406 rs151344518
10 AFG3L2 p.Gly671Arg VAR_064407 rs151344517
11 AFG3L2 p.Glu700Lys VAR_064408 rs151344522
12 AFG3L2 p.Tyr689His VAR_075198
13 AFG3L2 p.Tyr689Asn VAR_075199

ClinVar genetic disease variations for Spinocerebellar Ataxia 28:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 AFG3L2 NM_006796.2(AFG3L2): c.1996A> G (p.Met666Val) single nucleotide variant Pathogenic rs151344514 GRCh37 Chromosome 18, 12337519: 12337519
2 AFG3L2 NM_006796.2(AFG3L2): c.1997T> G (p.Met666Arg) single nucleotide variant Pathogenic rs151344515 GRCh37 Chromosome 18, 12337518: 12337518
3 AFG3L2 NM_006796.2(AFG3L2): c.2011G> A (p.Gly671Arg) single nucleotide variant Pathogenic rs151344517 GRCh37 Chromosome 18, 12337504: 12337504
4 AFG3L2 NM_006796.2(AFG3L2): c.1961C> T (p.Thr654Ile) single nucleotide variant Pathogenic rs151344513 GRCh37 Chromosome 18, 12340219: 12340219
5 AFG3L2 NM_006796.2(AFG3L2): c.1997T> C (p.Met666Thr) single nucleotide variant Pathogenic rs151344515 GRCh37 Chromosome 18, 12337518: 12337518
6 AFG3L2 NM_006796.2(AFG3L2): c.2012G> A (p.Gly671Glu) single nucleotide variant Pathogenic rs151344518 GRCh37 Chromosome 18, 12337503: 12337503
7 AFG3L2 NM_006796.2(AFG3L2): c.2098G> A (p.Glu700Lys) single nucleotide variant Pathogenic rs151344522 GRCh37 Chromosome 18, 12337417: 12337417
8 AFG3L2 NM_006796.2(AFG3L2): c.2071G> A (p.Glu691Lys) single nucleotide variant Pathogenic rs151344520 GRCh37 Chromosome 18, 12337444: 12337444
9 AFG3L2 NM_006796.2(AFG3L2): c.2021_2022delCCinsTA (p.Ser674Leu) indel Pathogenic rs151344519 GRCh37 Chromosome 18, 12337493: 12337494
10 AFG3L2 NM_006796.2(AFG3L2): c.2081C> A (p.Ala694Glu) single nucleotide variant Pathogenic rs151344521 GRCh37 Chromosome 18, 12337434: 12337434
11 AFG3L2 NM_006796.2(AFG3L2): c.2105G> A (p.Arg702Gln) single nucleotide variant Pathogenic/Likely pathogenic rs151344523 GRCh37 Chromosome 18, 12337410: 12337410
12 AFG3L2 NM_006796.2(AFG3L2): c.1295A> C (p.Asn432Thr) single nucleotide variant Pathogenic rs151344512 GRCh37 Chromosome 18, 12353027: 12353027

Expression for Spinocerebellar Ataxia 28

Search GEO for disease gene expression data for Spinocerebellar Ataxia 28.

Pathways for Spinocerebellar Ataxia 28

Pathways related to Spinocerebellar Ataxia 28 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.72 GRM1 PDYN PRKCG
2 10.4 GRM1 PRKCG

GO Terms for Spinocerebellar Ataxia 28

Cellular components related to Spinocerebellar Ataxia 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.26 GRM1 KCNC3 PDYN PRKCG
2 presynaptic membrane GO:0042734 9.16 GRM1 KCNC3
3 m-AAA complex GO:0005745 8.62 AFG3L2 SPG7

Biological processes related to Spinocerebellar Ataxia 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.13 GRM1 PDYN PRKCG
2 mitochondrial calcium ion transmembrane transport GO:0006851 8.62 AFG3L2 SPG7

Sources for Spinocerebellar Ataxia 28

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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