Spinocerebellar Ataxia 36

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

Aliases & Classifications for Spinocerebellar Ataxia 36

MalaCards integrated aliases for Spinocerebellar Ataxia 36:

Name: Spinocerebellar Ataxia 36 54 50 25 71 29 13 69
Spinocerebellar Ataxia Type 36 12 23 25 56 14
Sca36 23 50 25 56 71
Costa Da Morte Ataxia 23
Costa De Morte Ataxia 25
Asidan Ataxia 25
Asidan/sca36 23
Asidan 56


Orphanet epidemiological data:

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


autosomal dominant

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


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


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...


Orphanet: 56  
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 spinocerebellar ataxia type 36, is related to spinocerebellar ataxia type36 and ataxia, and has symptoms including dysarthria, hyperreflexia 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. The drugs Idebenone and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include tongue, eye and skeletal muscle.

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 : 54
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 21 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia 7
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia 41 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia 12 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia, Autosomal Recessive 3 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia, Autosomal Recessive 25
Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia, Autosomal Recessive 8
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia 18
Spinocerebellar Ataxia 32 Spinocerebellar Ataxia, Autosomal Recessive 1
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 4
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 6 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 13 Spinocerebellar Ataxia 14
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia Autosomal Recessive 5

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

(show all 21)
id Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia type36 11.1
2 ataxia 10.3
3 hyperalphalipoproteinemia 10.0 PDYN TARDBP
4 melanoma, cutaneous malignant, 2 10.0 ATXN2 TARDBP
5 pick disease 9.9 ATXN2 TARDBP
6 cervical dystonia 9.9
7 cervicitis 9.9
8 dystonia 9.9
9 motor neuron disease 9.8
10 neuronitis 9.8
11 hereditary spastic paraplegia 9.8 ATXN2 PPP2R2B
12 okt4 epitope deficiency 9.8 ATXN2 PPP2R2B
13 schistosoma mansoni infection, susceptibility/ 9.6 ATXN2 PPP2R2B
14 auditory neuropathy, autosomal dominant, 1 9.6 ATXN10 PPP2R2B
15 prostate carcinoma in situ 9.5 RBFOX3 TARDBP
16 long qt syndrome 5 9.5 ATXN2 NOP56 TARDBP
17 dipetalonemiasis 9.2 ATXN10 ATXN2 PPP2R2B
18 idiopathic interstitial pneumonia 8.8 ATXN10 ATXN2 PDYN PPP2R2B
19 bruck syndrome 2 8.8 ATXN10 ATXN2 PDYN PPP2R2B
20 benign focal amyotrophy 8.4 ATXN10 ATXN2 NOP56 PDYN PPP2R2B
21 hypogonadotropic hypogonadism 3 with or without anosmia 7.0 ATXN10 ATXN2 LOC109504727 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:


Neurologic- Central Nervous System:
extensor plantar responses
cerebellar ataxia
gait ataxia
Head And Neck- Mouth:
tongue atrophy
tongue fasciculations

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:


Human phenotypes related to Spinocerebellar Ataxia 36:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 hyperreflexia 32 HP:0001347
3 gait ataxia 32 HP:0002066
4 limb ataxia 32 HP:0002070
5 cerebellar atrophy 32 HP:0001272
6 impaired smooth pursuit 32 HP:0007772
7 incoordination 32 HP:0002311
8 tongue atrophy 32 HP:0012473
9 babinski sign 32 HP:0003487
10 tongue fasciculations 32 HP:0001308
11 slow saccadic eye movements 32 HP:0000514

UMLS symptoms related to Spinocerebellar Ataxia 36:

cerebellar ataxia, abnormal coordination, gait ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia 36

Drugs for Spinocerebellar Ataxia 36 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Idebenone Approved, Investigational Phase 1 58186-27-9
2 Antioxidants Phase 1
3 Micronutrients Phase 1
4 Protective Agents Phase 1
5 Trace Elements Phase 1
6 Ubiquinone Phase 1

Interventional clinical trials:

id Name Status NCT ID Phase Drugs
1 Phase 1 Trial of Idebenone to Treat Patients With Friedreich's Ataxia Completed NCT00078481 Phase 1 Idebenone
2 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:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 36 29

Anatomical Context for Spinocerebellar Ataxia 36

MalaCards organs/tissues related to Spinocerebellar Ataxia 36:

Tongue, Eye, Skeletal Muscle, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 36

Articles related to Spinocerebellar Ataxia 36:

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

Variations for Spinocerebellar Ataxia 36

ClinVar genetic disease variations for Spinocerebellar Ataxia 36:

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

id Super pathways Score Top Affiliating Genes
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:

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

Sources for Spinocerebellar Ataxia 36

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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