MCID: SPN265
MIFTS: 41

Spinocerebellar Ataxia 36

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

Aliases & Classifications for Spinocerebellar Ataxia 36

MalaCards integrated aliases for Spinocerebellar Ataxia 36:

Name: Spinocerebellar Ataxia 36 53 49 24 71 28 13 69
Sca36 53 23 49 24 55 71
Spinocerebellar Ataxia Type 36 12 23 24 55 14
Costa Da Morte Ataxia 23
Costa De Morte Ataxia 24
Asidan Ataxia 24
Asidan/sca36 23
Asidan 55

Characteristics:

Orphanet epidemiological data:

55
spinocerebellar ataxia type 36
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
mean age at onset of cerebellar ataxia is 52.8 years
patients with longer disease duration show motor neuron involvement
described in families from western japan
described in families from galicia, spain
unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2,500 repeats


HPO:

31
spinocerebellar ataxia 36:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance From the families reported to date, penetrance of an nop56 ggcctg hexanucleotide pathogenic allele appears to be complete but age dependent. although the first manifestations of sca36 typically appear roughly between age 45 and 55 years, the range may be as broad as age 30 to 65 years...

Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 36

UniProtKB/Swiss-Prot : 71 Spinocerebellar ataxia 36: 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. SCA36 is characterized by complicated clinical features, with ataxia as the first symptom, followed by characteristic late-onset involvement of the motor neuron system. Ataxic symptoms, such as gait and truncal instability, ataxic dysarthria, and uncoordinated limbs, start in late forties to fifties. Characteristically, affected individuals exhibit tongue atrophy with fasciculation. Progression of motor neuron involvement is typically limited to the tongue and main proximal skeletal muscles in both upper and lower extremities.

MalaCards based summary : Spinocerebellar Ataxia 36, also known as sca36, is related to autosomal dominant cerebellar ataxia and ataxia and polyneuropathy, adult-onset, and has symptoms including gait ataxia, dysarthria and hyperreflexia. An important gene associated with Spinocerebellar Ataxia 36 is NOP56 (NOP56 Ribonucleoprotein), and among its related pathways/superpathways is Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling. Affiliated tissues include tongue, eye and skeletal muscle.

Genetics Home Reference : 24 Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. People with this condition initially experience problems with coordination and balance (ataxia). Affected individuals often have exaggerated reflexes (hyperreflexia) and problems with speech (dysarthria). They also usually develop muscle twitches (fasciculations) of the tongue and over time, the muscles in the tongue waste away (atrophy). These tongue problems can cause difficulties swallowing liquids. As the condition progresses, individuals with SCA36 develop muscle atrophy in the legs, forearms, and hands. Another common feature of SCA36 is the atrophy of specialized nerve cells that control muscle movement (motor neurons), which can contribute to the tongue and limb muscle atrophy in affected individuals.

OMIM : 53 SCA36 is a slowly progressive neurodegenerative disorder characterized by adult-onset gait ataxia, eye movement abnormalities, tongue fasciculations, and variable upper motor neuron signs. Some affected individuals may develop hearing loss (summary by Garcia-Murias et al., 2012). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (614153)

GeneReviews: NBK231880

Related Diseases for Spinocerebellar Ataxia 36

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 36 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 29.1 ATXN10 ATXN2 PDYN PPP2R2B
2 ataxia and polyneuropathy, adult-onset 10.3
3 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.0 ATXN2 TARDBP
4 spinocerebellar ataxia 31 10.0 PDYN TARDBP
5 cervical dystonia 9.9
6 cervicitis 9.9
7 dystonia 9.9
8 motor neuron disease 9.9
9 neuronitis 9.9
10 hereditary ataxia 9.8 ATXN2 PPP2R2B
11 spinocerebellar ataxia 12 9.7 ATXN2 PPP2R2B
12 dentatorubral-pallidoluysian atrophy 9.7 ATXN2 PPP2R2B
13 spinocerebellar ataxia 8 9.7 ATXN10 PPP2R2B
14 nervous system disease 9.6 RBFOX3 TARDBP
15 amyotrophic lateral sclerosis 1 9.6 ATXN2 NOP56 TARDBP
16 cerebellar disease 9.1 ATXN10 NOP56 PDYN PPP2R2B
17 aceruloplasminemia 8.8 ATXN10 ATXN2 NOP56 PDYN PPP2R2B

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 36:



Diseases related to Spinocerebellar Ataxia 36

Symptoms & Phenotypes for Spinocerebellar Ataxia 36

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
cerebellar ataxia
gait ataxia
dysarthria
hyperreflexia
limb ataxia
more
Head And Neck Eyes:
impaired smooth pursuit
slow saccades
horizontal gaze nystagmus
gaze limitation

Muscle Soft Tissue:
distal skeletal muscle atrophy (after long disease duration)
chronic denervation seen on skeletal muscle biopsy

Head And Neck Mouth:
tongue fasciculations
tongue atrophy

Head And Neck Ears:
hearing loss, progressive (in some patients)


Clinical features from OMIM:

614153

Human phenotypes related to Spinocerebellar Ataxia 36:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 gait ataxia 31 HP:0002066
2 dysarthria 31 HP:0001260
3 hyperreflexia 31 HP:0001347
4 limb ataxia 31 HP:0002070
5 babinski sign 31 HP:0003487
6 cerebellar atrophy 31 HP:0001272
7 incoordination 31 HP:0002311
8 slow saccadic eye movements 31 HP:0000514
9 tongue fasciculations 31 HP:0001308
10 impaired smooth pursuit 31 HP:0007772
11 tongue atrophy 31 HP:0012473

UMLS symptoms related to Spinocerebellar Ataxia 36:


cerebellar ataxia, gait ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia 36

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 36

Genetic Tests for Spinocerebellar Ataxia 36

Genetic tests related to Spinocerebellar Ataxia 36:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 36 28 NOP56

Anatomical Context for Spinocerebellar Ataxia 36

MalaCards organs/tissues related to Spinocerebellar Ataxia 36:

38
Tongue, Eye, Skeletal Muscle, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 36

Articles related to Spinocerebellar Ataxia 36:

# Title Authors Year
1
Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs. ( 28918022 )
2017
2
Prevalence of spinocerebellar ataxia 36 in a US population. ( 28761930 )
2017
3
Spinocerebellar ataxia 36 accompanied by cervical dystonia. ( 26189053 )
2015
4
Spinocerebellar ataxia 36 (SCA36): A<Costa da Morte ataxiaA> ( 25593102 )
2015
5
'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization. ( 22492559 )
2012
6
The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients. ( 22753339 )
2012

Variations for Spinocerebellar Ataxia 36

ClinVar genetic disease variations for Spinocerebellar Ataxia 36:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NOP56 NM_006392.3(NOP56): c.3+71_3+75[(16_?)] NT expansion Pathogenic rs909330176 GRCh37 Chromosome 20, 2633380: 2633385
2 NOP56 NM_006392.3(NOP56): c.3+71_3+76GGCCTG(650_?) short repeat Pathogenic GRCh37 Chromosome 20, 2633380: 2633385

Expression for Spinocerebellar Ataxia 36

Search GEO for disease gene expression data for Spinocerebellar Ataxia 36.

Pathways for Spinocerebellar Ataxia 36

Pathways related to Spinocerebellar Ataxia 36 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.58 PDYN PPP2R2B

GO Terms for Spinocerebellar Ataxia 36

Cellular components related to Spinocerebellar Ataxia 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 8.8 ATXN10 PDYN RBFOX3

Molecular functions related to Spinocerebellar Ataxia 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 8.92 ATXN2 NOP56 RBFOX3 TARDBP

Sources for Spinocerebellar Ataxia 36

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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