Spinocerebellar Ataxia 15

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 15

MalaCards integrated aliases for Spinocerebellar Ataxia 15:

Name: Spinocerebellar Ataxia 15 54 50 71 29 13 69
Spinocerebellar Ataxia Type 15 12 23 50 14
Sca15 23 50 71 52
Spinocerebellar Ataxia Type 16 71
Sca16 71



autosomal dominant

wide range of onset from childhood to adult (10 to 50 years)
very slow progression
most patients remain ambulatory
genetic heterogeneity, see sca1


spinocerebellar ataxia 15:
Onset and clinical course adult onset slow progression juvenile onset
Inheritance autosomal dominant inheritance


Penetrance The penetrance is unknown. based on the even segregation ratio in older generations of the known sca15 pedigrees, penetrance is likely to be high or complete in these families. the late age of onset in some cases (≤72 years) may confound attempts to establish penetrance. apparently unaffected parents of three affected siblings were reported in one japanese pedigree, although detailed information on the parents was not available [obayashi et al 2012]. based on pedigree analysis, a parent who would have been predicted to have a pathogenic variant in one of the german families died young (age 31) and was asymptomatic at the time of death, potentially concealing disease development [synofzik et al 2011]...


Summaries for Spinocerebellar Ataxia 15

NIH Rare Diseases : 50 spinocerebellar ataxia 15 (sca15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and  balance, speech and swallowing difficulties. the onset of symptoms typically occurs between ages 7 and 66 years. the ability to walk independently is often maintained for many years following onset of symptoms. sca15 is caused by mutations in the itpr1 gene. it is inherited in an autosomal dominant manner. diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases. there is no effective treatment known to modify disease progression. patients may benefit from occupational and physical therapy for gait dysfunction and speech therapy for dysarthria.  last updated: 1/22/2013

MalaCards based summary : Spinocerebellar Ataxia 15, also known as spinocerebellar ataxia type 15, is related to spinocerebellar ataxia 29, congenital nonprogressive and spinocerebellar ataxia type 16, and has symptoms including dysarthria, hyperreflexia and gaze-evoked horizontal nystagmus. An important gene associated with Spinocerebellar Ataxia 15 is ITPR1 (Inositol 1,4,5-Trisphosphate Receptor Type 1), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling. The drugs Metformin and Pioglitazone have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and spinal cord, and related phenotypes are behavior/neurological and growth/size/body region

UniProtKB/Swiss-Prot : 71 Spinocerebellar ataxia 15: 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. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory.

OMIM : 54
SCA15 is an autosomal dominant, adult-onset, very slowly progressive form of cerebellar ataxia. Most patients also have disabling action and postural tremor, and some have pyramidal tract affection, dorsal column involvement, and gaze palsy. Brain imaging shows cerebellar atrophy mainly affecting the vermis (summary by Synofzik et al., 2011). Heterozygous mutation in the ITPR1 gene can also cause SCA29 (117360), which is distinguished by onset in infancy of delayed motor development followed by nonprogressive ataxia and mild cognitive impairment. Autosomal dominant 'pure' cerebellar ataxia, classified as ADCA type III by 3,4:Harding (1983, 1993), is a genetically heterogeneous disorder (see, e.g., 117210). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (606658)

GeneReviews: NBK1362

Related Diseases for Spinocerebellar Ataxia 15

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

(show all 12)
id Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 29, congenital nonprogressive 28.3 ITPR1 KCNC3 PDYN SPTBN2 SUMF1
2 spinocerebellar ataxia type 16 12.2
3 spinocerebellar ataxia, autosomal recessive 15 11.0
4 spinocerebellar ataxia type15 10.8
5 ataxia 10.0
6 spastic ataxia 5, autosomal recessive 9.7 KCNC3 PDYN
7 hypomyelinating leukoencephalopathy 9.6 ITPR1 SUMF1
8 idiopathic interstitial pneumonia 9.1 ITPR1 PDYN SPTBN2
9 melkersson-rosenthal syndrome 9.1 ITPR1 KCNC3 SPTBN2
10 dipetalonemiasis 8.8 ITPR1 KCNC3 SPTBN2
11 bruck syndrome 2 8.5 ITPR1 KCNC3 PDYN SPTBN2
12 benign focal amyotrophy 8.4 ITPR1 KCNC3 PDYN SPTBN2

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 15:

Diseases related to Spinocerebellar Ataxia 15

Symptoms & Phenotypes for Spinocerebellar Ataxia 15

Symptoms via clinical synopsis from OMIM:


Neurologic- Central Nervous System:
cerebellar ataxia
gait ataxia
truncal ataxia
Head And Neck- Eyes:
impaired smooth pursuit
dysmetric saccades
nystagmus, horizontal, gaze-evoked

Clinical features from OMIM:


Human phenotypes related to Spinocerebellar Ataxia 15:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 hyperreflexia 32 HP:0001347
3 gaze-evoked horizontal nystagmus 32 HP:0007979
4 gait ataxia 32 HP:0002066
5 truncal ataxia 32 HP:0002078
6 limb ataxia 32 HP:0002070
7 cerebellar atrophy 32 HP:0001272
8 postural tremor 32 HP:0002174
9 impaired smooth pursuit 32 HP:0007772
10 dysmetric saccades 32 HP:0000641
11 scanning speech 32 HP:0002168

UMLS symptoms related to Spinocerebellar Ataxia 15:

cerebellar ataxia, action tremor, static tremor, scanning speech, ataxia, truncal, gait ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 15:

id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 ITPR1 KCNC3 PDYN SPTBN2 SUMF1
2 growth/size/body region MP:0005378 9.35 ITPR1 KCNC3 PDYN SPTBN2 SUMF1
3 nervous system MP:0003631 9.02 KCNC3 PDYN SPTBN2 SUMF1 ITPR1

Drugs & Therapeutics for Spinocerebellar Ataxia 15

Drugs for Spinocerebellar Ataxia 15 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Metformin Approved Phase 4 657-24-9 14219 4091
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
3 Hypoglycemic Agents Phase 4
Menthol Approved Phase 2 2216-51-5 16666
Catechin Nutraceutical Phase 2 154-23-4 9064
Epicatechin Investigational, Nutraceutical Phase 2 490-46-0 72276
Methylprednisolone Approved, Vet_approved Early Phase 1 83-43-2 6741
Prednisolone Approved, Vet_approved Early Phase 1 50-24-8 5755
9 Antiemetics Early Phase 1
10 Anti-Inflammatory Agents Early Phase 1
11 Antineoplastic Agents, Hormonal Early Phase 1
12 Autonomic Agents Early Phase 1
13 Gastrointestinal Agents Early Phase 1
14 glucocorticoids Early Phase 1
15 Hormone Antagonists Early Phase 1
16 Hormones Early Phase 1
17 Hormones, Hormone Substitutes, and Hormone Antagonists Early Phase 1
18 Methylprednisolone acetate Early Phase 1
19 Methylprednisolone Hemisuccinate Early Phase 1
20 Neuroprotective Agents Early Phase 1
21 Peripheral Nervous System Agents Early Phase 1
22 Prednisolone acetate Early Phase 1
23 Prednisolone hemisuccinate Early Phase 1
24 Prednisolone phosphate Early Phase 1
25 Protective Agents Early Phase 1

Interventional clinical trials:

id Name Status NCT ID Phase Drugs
1 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Recruiting NCT02733679 Phase 4 Metformin;Pioglitazone
2 Study To Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta in Patients With Machado-Joseph Disease Completed NCT02147886 Phase 2 Cabaletta for IV infusion once weekly during 24 weeks;Cabaletta for IV infusion once weekly during 24 weeks
3 (+) Epicatechin to Treat Friedreich's Ataxia Recruiting NCT02660112 Phase 2 (+)-Epicatechin
4 Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3 Withdrawn NCT01096095 Phase 2 Placebo;Sodium Phenylbutyrate
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
6 Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias Recruiting NCT01060371
7 Methylprednisolone Treatment of Friedreich Ataxia Active, not recruiting NCT02424435 Early Phase 1 Methylprednisolone
8 Early and Longitudinal Assessment of Neurodegeneration in the Brain and Spinal Cord in Friedreich's Ataxia Enrolling by invitation NCT01776164

Search NIH Clinical Center for Spinocerebellar Ataxia 15

Genetic Tests for Spinocerebellar Ataxia 15

Genetic tests related to Spinocerebellar Ataxia 15:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 15 29

Anatomical Context for Spinocerebellar Ataxia 15

MalaCards organs/tissues related to Spinocerebellar Ataxia 15:

Eye, Brain, Spinal Cord, Testes, Cerebellum

Publications for Spinocerebellar Ataxia 15

Articles related to Spinocerebellar Ataxia 15:

id Title Authors Year
Spinocerebellar ataxia 15: A phenotypic review and expansion. ( 27908616 )
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. ( 17590087 )

Variations for Spinocerebellar Ataxia 15

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 15:

id Symbol AA change Variation ID SNP ID
1 ITPR1 p.Pro1059Leu VAR_069568

ClinVar genetic disease variations for Spinocerebellar Ataxia 15:

id Gene Variation Type Significance SNP ID Assembly Location
1 ITPR1 NC_000003.12 deletion Pathogenic GRCh38 Chromosome 3, 4480596: 4793915
2 ITPR1 NM_002222.5(ITPR1): c.3176C> T (p.Pro1059Leu) single nucleotide variant Pathogenic rs121912425 GRCh37 Chromosome 3, 4725156: 4725156
3 ITPR1 NM_001168272.1(ITPR1): c.7739G> A (p.Gly2580Glu) single nucleotide variant Pathogenic rs869312685 GRCh37 Chromosome 3, 4856819: 4856819

Expression for Spinocerebellar Ataxia 15

Search GEO for disease gene expression data for Spinocerebellar Ataxia 15.

Pathways for Spinocerebellar Ataxia 15

Pathways related to Spinocerebellar Ataxia 15 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.31 ITPR1 KCNC3
Show member pathways
10.58 ITPR1 PDYN

GO Terms for Spinocerebellar Ataxia 15

Cellular components related to Spinocerebellar Ataxia 15 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell cortex GO:0005938 8.62 KCNC3 SPTBN2

Sources for Spinocerebellar Ataxia 15

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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