SCA48
MCID: SPN427
MIFTS: 31

Spinocerebellar Ataxia 48 (SCA48)

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

Aliases & Classifications for Spinocerebellar Ataxia 48

MalaCards integrated aliases for Spinocerebellar Ataxia 48:

Name: Spinocerebellar Ataxia 48 57 72 29 6 17
Sca48 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset in mid-adulthood
patients may present with either cognitive-affective symptoms or motor symptoms


HPO:

31
spinocerebellar ataxia 48:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



Summaries for Spinocerebellar Ataxia 48

OMIM® : 57 SCA48 is an autosomal dominant neurodegenerative disorder characterized by onset of gait ataxia and/or cognitive-affective symptoms in midadulthood. Patients may present with involvement of either system, but most eventually develop impairment in both. Features include gait ataxia, dysarthria, and dysphagia, as well as cognitive decline, deficits in executive function, and psychiatric or affective manifestations, such as depression, anxiety, and apathy. Additional more variable features may include movement abnormalities, such as parkinsonism, tremor, chorea, dystonia, and dysmetria; spasticity is not observed. Brain imaging shows selective atrophy of the posterior areas of the cerebellar vermis, often with bilateral T2-weighted hyperintensities in the dentate nuclei (the 'crab sign'), and diffusion tensor imaging (DTI) may show paucity of cerebellar connections to the brainstem and cerebrum. The presentation is consistent with a clinical diagnosis of cerebellar cognitive-affective syndrome (CCAS). The phenotype shows both inter- and intrafamilial variability as well as some clinical overlap with SCAR16, suggesting that mutations in the STUB1 gene result in a spectrum of neurodegenerative manifestations (summary by Genis et al., 2018; Cocozza et al., 2020; Palvadeau et al., 2020; Ravel et al., 2021). (618093) (Updated 20-May-2021)

MalaCards based summary : Spinocerebellar Ataxia 48, also known as sca48, is related to spinocerebellar ataxia, autosomal recessive 16 and huntington disease. An important gene associated with Spinocerebellar Ataxia 48 is STUB1 (STIP1 Homology And U-Box Containing Protein 1). Affiliated tissues include eye, liver and cerebellum, and related phenotypes are dysarthria and dysphagia

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 48: A form of spinocerebellar ataxia, 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. SCA48 is an autosomal dominant neurodegenerative disease characterized by onset in mid- adulthood of progressive cognitive decline and gait ataxia, and vermian and hemispheric cerebellar atrophy.

Related Diseases for Spinocerebellar Ataxia 48

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 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 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 48 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 16 29.4 STUB1 JMJD8
2 huntington disease 10.0
3 ataxia and polyneuropathy, adult-onset 10.0
4 spinocerebellar ataxia 17 10.0
5 chorea, childhood-onset, with psychomotor retardation 10.0
6 parkinsonism 10.0
7 cerebellar ataxia type 48 10.0
8 choreatic disease 10.0
9 autosomal dominant cerebellar ataxia 10.0
10 dystonia 10.0
11 48,xyyy 10.0
12 apraxia 9.9
13 spinocerebellar ataxia 15 9.5 STUB1 JMJD8

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 48:



Diseases related to Spinocerebellar Ataxia 48

Symptoms & Phenotypes for Spinocerebellar Ataxia 48

Human phenotypes related to Spinocerebellar Ataxia 48:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 dysarthria 31 HP:0001260
2 dysphagia 31 HP:0002015
3 anxiety 31 HP:0000739
4 dysmetria 31 HP:0001310
5 gait ataxia 31 HP:0002066
6 cerebellar atrophy 31 HP:0001272
7 urinary incontinence 31 HP:0000020

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
eye movement abnormalities
saccadic pursuit
ocular dysmetria

Abdomen Gastrointestinal:
dysphagia

Genitourinary Bladder:
urinary incontinence

Neurologic Central Nervous System:
dysarthria
tremor
chorea
dysmetria
dystonia
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
impulsivity
depression
executive dysfunction
psychiatric disorders

Clinical features from OMIM®:

618093 (Updated 20-May-2021)

Drugs & Therapeutics for Spinocerebellar Ataxia 48

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 48

Genetic Tests for Spinocerebellar Ataxia 48

Genetic tests related to Spinocerebellar Ataxia 48:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 48 29 STUB1

Anatomical Context for Spinocerebellar Ataxia 48

MalaCards organs/tissues related to Spinocerebellar Ataxia 48:

40
Eye, Liver, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia 48

Articles related to Spinocerebellar Ataxia 48:

(show all 12)
# Title Authors PMID Year
1
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families. 61 57 6
31571321 2020
2
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family. 57 6 61
31741143 2020
3
Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families. 61 57 6
31126790 2019
4
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). 6 57 61
30381368 2018
5
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia. 57 61
33417001 2021
6
The "crab sign": an imaging feature of spinocerebellar ataxia type 48. 61 57
32285148 2020
7
Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation. 61 57
32337344 2020
8
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. 6
24719489 2014
9
A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype. 61
33811518 2021
10
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. 61
32713943 2020
11
Spinocerebellar ataxia type 48: last but not least. 61
32342324 2020
12
Of cognition and cerebellum in SCA48. 61
32009217 2020

Variations for Spinocerebellar Ataxia 48

ClinVar genetic disease variations for Spinocerebellar Ataxia 48:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STUB1 NM_005861.4(STUB1):c.97G>A (p.Gly33Ser) SNV Pathogenic 997699 GRCh37: 16:730622-730622
GRCh38: 16:680622-680622
2 STUB1 , JMJD8 NM_005861.4(STUB1):c.682C>T (p.Pro228Ser) SNV Pathogenic 997700 GRCh37: 16:732177-732177
GRCh38: 16:682177-682177
3 STUB1 , JMJD8 NM_005861.4(STUB1):c.689_692del (p.Tyr230fs) Deletion Pathogenic 871159 GRCh37: 16:732182-732185
GRCh38: 16:682182-682185
4 STUB1 , JMJD8 NM_005861.4(STUB1):c.818_819dup (p.Pro274fs) Duplication Pathogenic 997704 GRCh37: 16:732394-732395
GRCh38: 16:682394-682395
5 STUB1 , JMJD8 NM_005861.4(STUB1):c.823_824del (p.Leu275fs) Deletion Pathogenic 590271 rs748984540 GRCh37: 16:732400-732401
GRCh38: 16:682400-682401
6 STUB1 , JMJD8 NM_005861.4(STUB1):c.823dup (p.Leu275fs) Duplication Pathogenic 976748 GRCh37: 16:732395-732396
GRCh38: 16:682395-682396
7 STUB1 , JMJD8 NM_005861.4(STUB1):c.760C>G (p.Arg254Gly) SNV Likely pathogenic 982033 GRCh37: 16:732255-732255
GRCh38: 16:682255-682255

Expression for Spinocerebellar Ataxia 48

Search GEO for disease gene expression data for Spinocerebellar Ataxia 48.

Pathways for Spinocerebellar Ataxia 48

GO Terms for Spinocerebellar Ataxia 48

Cellular components related to Spinocerebellar Ataxia 48 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 8.62 STUB1 JMJD8

Sources for Spinocerebellar Ataxia 48

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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