MCID: SPN265
MIFTS: 42

Spinocerebellar Ataxia 36

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

Aliases & Classifications for Spinocerebellar Ataxia 36

MalaCards integrated aliases for Spinocerebellar Ataxia 36:

Name: Spinocerebellar Ataxia 36 57 53 25 75 29 13 6 73
Sca36 57 24 53 25 59 75
Spinocerebellar Ataxia Type 36 12 24 25 59 15
Ataxia, Spinocerebellar, Type 36 40
Costa Da Morte Ataxia 24
Costa De Morte Ataxia 25
Asidan Ataxia 25
Asidan/sca36 24
Asidan 59

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 36
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
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:

32
spinocerebellar ataxia 36:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


GeneReviews:

24
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: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 36

UniProtKB/Swiss-Prot : 75 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 frontotemporal dementia and/or amyotrophic lateral sclerosis 1, and has symptoms including cerebellar ataxia and gait ataxia. 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, and related phenotypes are ptosis and diplopia

Genetics Home Reference : 25 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 : 57 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 47 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 36 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 28.2 ATXN10 ATXN2 PDYN PPP2R2B
2 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.0 ATXN2 TARDBP
3 spinocerebellar ataxia 31 10.0 PDYN TARDBP
4 cervical dystonia 9.9
5 cervicitis 9.9
6 dystonia 9.9
7 motor neuron disease 9.9
8 neuronitis 9.9
9 spinocerebellar ataxia 12 9.6 ATXN2 PPP2R2B
10 dentatorubral-pallidoluysian atrophy 9.5 ATXN2 PPP2R2B
11 spinocerebellar ataxia 8 9.4 ATXN10 PPP2R2B
12 amyotrophic lateral sclerosis 1 9.4 ATXN2 NOP56 TARDBP
13 central nervous system disease 9.3 RBFOX3 TARDBP
14 hereditary ataxia 9.0 ATXN10 ATXN2 PPP2R2B
15 cerebellar disease 8.2 ATXN10 ATXN2 NOP56 PDYN PPP2R2B
16 aceruloplasminemia 8.1 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:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
gait ataxia
limb ataxia
cerebellar atrophy
more
Head And Neck Mouth:
tongue fasciculations
tongue atrophy

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

Head And Neck Eyes:
impaired smooth pursuit
slow saccades
horizontal gaze nystagmus
gaze limitation

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


Clinical features from OMIM:

614153

Human phenotypes related to Spinocerebellar Ataxia 36:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
2 diplopia 59 32 very rare (1%) Very rare (<4-1%) HP:0000651
3 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
4 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
5 dysphagia 59 32 very rare (1%) Very rare (<4-1%) HP:0002015
6 bowel incontinence 59 32 very rare (1%) Very rare (<4-1%) HP:0002607
7 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
8 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
9 attention deficit hyperactivity disorder 59 32 very rare (1%) Very rare (<4-1%) HP:0007018
10 limb ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002070
11 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
12 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
13 intention tremor 59 32 very rare (1%) Very rare (<4-1%) HP:0002080
14 migraine 59 32 very rare (1%) Very rare (<4-1%) HP:0002076
15 vertigo 59 32 very rare (1%) Very rare (<4-1%) HP:0002321
16 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
17 truncal ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002078
18 blurred vision 59 32 frequent (33%) Frequent (79-30%) HP:0000622
19 head tremor 59 32 very rare (1%) Very rare (<4-1%) HP:0002346
20 slow saccadic eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0000514
21 tongue fasciculations 59 32 frequent (33%) Frequent (79-30%) HP:0001308
22 loss of purkinje cells in the cerebellar vermis 59 32 frequent (33%) Frequent (79-30%) HP:0007001
23 tongue atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0012473
24 hand tremor 59 32 very rare (1%) Very rare (<4-1%) HP:0002378
25 limb myoclonus 59 32 very rare (1%) Very rare (<4-1%) HP:0045084
26 ataxia 59 Very frequent (99-80%)
27 gait ataxia 32 HP:0002066
28 fasciculations 59 Frequent (79-30%)
29 cerebellar atrophy 32 HP:0001272
30 incoordination 32 HP:0002311
31 impaired smooth pursuit 32 HP:0007772

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 29 NOP56

Anatomical Context for Spinocerebellar Ataxia 36

MalaCards organs/tissues related to Spinocerebellar Ataxia 36:

41
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
The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients. ( 22753339 )
2012
6
'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization. ( 22492559 )
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+75[(16_?)] NT expansion Pathogenic rs909330176 GRCh38 Chromosome 20, 2652734: 2652739
3 NOP56 NM_006392.3(NOP56): c.3+71_3+76GGCCTG(650_?) short repeat Pathogenic GRCh37 Chromosome 20, 2633380: 2633385
4 NOP56 NM_006392.3(NOP56): c.3+71_3+76GGCCTG(650_?) short repeat Pathogenic GRCh38 Chromosome 20, 2652734: 2652739

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

Sources for Spinocerebellar Ataxia 36

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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