MCID: SPN283
MIFTS: 27

Spinocerebellar Ataxia 37

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 37

MalaCards integrated aliases for Spinocerebellar Ataxia 37:

Name: Spinocerebellar Ataxia 37 57 53 75 6 73
Sca37 57 53 59 75
Spinocerebellar Ataxia Type 37 12 59
Spinocerebellar Ataxia with Altered Vertical Eye Movements 59

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 37
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
some patients become wheelchair-bound
de novo mutation in some patients
mean age at onset 48 years (range late teens to early 60s)
family a is of spanish descent and was the first described family
vertical eye movement abnormalities appear before horizontal eye movement abnormalities (family a) increased frequency among families from southern portugal


HPO:

32
spinocerebellar ataxia 37:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 37

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia 37: 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. SCA37 is an autosomal dominant form characterized by adult-onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging.

MalaCards based summary : Spinocerebellar Ataxia 37, also known as sca37, is related to autosomal dominant cerebellar ataxia, and has symptoms including cerebellar ataxia An important gene associated with Spinocerebellar Ataxia 37 is DAB1 (DAB1, Reelin Adaptor Protein). Affiliated tissues include eye, brain and spinal cord, and related phenotypes are abnormal conjugate eye movement and cogwheel rigidity

OMIM : 57 Spinocerebellar ataxia-37 (SCA37) is an autosomal dominant neurologic disorder characterized by adult onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging (summary by Seixas et al., 2017). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (615945)

Related Diseases for Spinocerebellar Ataxia 37

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

# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 10.0

Symptoms & Phenotypes for Spinocerebellar Ataxia 37

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
frequent falls
cerebellar ataxia
tremor (in some patients)
gait instability

Head And Neck Eyes:
altered vertical eye movements (family a)
inaccurate saccades (family a)
irregular pursuit (family a)
altered horizontal eye movements (family a)
nystagmus (family a)

Abdomen Gastrointestinal:
dysphagia (in some patients)


Clinical features from OMIM:

615945

Human phenotypes related to Spinocerebellar Ataxia 37:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal conjugate eye movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0000549
2 cogwheel rigidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002396
3 falls 59 32 hallmark (90%) Very frequent (99-80%) HP:0002527
4 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
5 horizontal nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000666
6 myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0001336
7 tremor 59 32 occasional (7.5%) Frequent (79-30%) HP:0001337
8 dysdiadochokinesis 59 32 frequent (33%) Frequent (79-30%) HP:0002075
9 truncal ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002078
10 scanning speech 59 32 frequent (33%) Frequent (79-30%) HP:0002168
11 limb dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0002406
12 sensory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0003474
13 cerebellar vermis atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006855
14 diffuse cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0100275
15 gait disturbance 59 Frequent (79-30%)
16 neurological speech impairment 59 Frequent (79-30%)
17 nystagmus 32 occasional (7.5%) HP:0000639
18 ataxia 32 HP:0001251
19 dysarthria 32 HP:0001260
20 dysphagia 32 occasional (7.5%) HP:0002015
21 unsteady gait 32 HP:0002317
22 frequent falls 32 HP:0002359

UMLS symptoms related to Spinocerebellar Ataxia 37:


cerebellar ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia 37

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 37

Genetic Tests for Spinocerebellar Ataxia 37

Anatomical Context for Spinocerebellar Ataxia 37

MalaCards organs/tissues related to Spinocerebellar Ataxia 37:

41
Eye, Brain, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 37

Articles related to Spinocerebellar Ataxia 37:

# Title Authors Year
1
New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. ( 23700170 )
2013

Variations for Spinocerebellar Ataxia 37

ClinVar genetic disease variations for Spinocerebellar Ataxia 37:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NC_000001.10 insertion Pathogenic
2 DAB1 DAB1, 5-BP INS, ATTTC(n) insertion Pathogenic

Expression for Spinocerebellar Ataxia 37

Search GEO for disease gene expression data for Spinocerebellar Ataxia 37.

Pathways for Spinocerebellar Ataxia 37

GO Terms for Spinocerebellar Ataxia 37

Sources for Spinocerebellar Ataxia 37

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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