MCID: SPN207
MIFTS: 32

Spinocerebellar Ataxia, Autosomal Recessive 8

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, Autosomal Recessive 8

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 8:

Name: Spinocerebellar Ataxia, Autosomal Recessive 8 57 29 13 6 73
Arca1 57 53 25 59 75
Autosomal Recessive Cerebellar Ataxia Type 1 25 59 75 73
Scar8 57 53 59 75
Autosomal Recessive Spinocerebellar Ataxia 8 53 25
Recessive Ataxia of Beauce 53 25
Cerebellar Ataxia, Autosomal Recessive, Type 1; Arca1 57
Ataxia, Spinocerebellar, Autosomal Recessive, Type 8 40
Syne1-Related Autosomal Recessive Cerebellar Ataxia 53
Cerebellar Ataxia, Autosomal Recessive, Type 1 57
Spinocerebellar Ataxia, Autosomal Recessive, 8 75
Spinocerebellar Ataxia Autosomal Recessive 8 53
Autosomal Recessive Ataxia, Beauce Type 59
Autosomal Recessive Ataxia Beauce Type 53
Ataxia, Recessive, of Beauce 57
Ataxia Recessive of Beauce 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive ataxia, beauce type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
adult onset (mean of 30 years)


HPO:

32
spinocerebellar ataxia, autosomal recessive 8:
Onset and clinical course adult onset slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 610743
Orphanet 59 ORPHA88644
UMLS via Orphanet 74 C1853116 C3683483
ICD10 via Orphanet 34 G11.2
MedGen 42 C1853116

Summaries for Spinocerebellar Ataxia, Autosomal Recessive 8

Genetics Home Reference : 25 Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both. They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with the eyes. The movement problems are slowly progressive, often resulting in the need for a cane, walker, or wheelchair.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 8, also known as arca1, is related to syne1-related autosomal recessive cerebellar ataxia and spinocerebellar ataxia, autosomal recessive 14, and has symptoms including cerebellar ataxia and gait ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 8 is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1). Affiliated tissues include eye, cerebellum and brain, and related phenotypes are ataxia and nystagmus

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia, autosomal recessive, 8: 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. SCAR8 is an autosomal recessive form.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 88644Disease definitionAutosomal recessiveataxia, Beauce type is characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several genemutations.Visit the Orphanet disease page for more resources.

Description from OMIM: 610743

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 8

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, Autosomal Recessive 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 syne1-related autosomal recessive cerebellar ataxia 12.4
2 spinocerebellar ataxia, autosomal recessive 14 11.2
3 aceruloplasminemia 10.2
4 ataxia-oculomotor apraxia 3 10.2
5 autosomal recessive cerebellar ataxia 10.2
6 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.0 SYNE1 SYNE1-AS1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 8:



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 8

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 8

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
abnormal saccades
abnormal smooth pursuit

Neurologic Central Nervous System:
dysarthria
gait ataxia
limb ataxia
dysmetria
cerebellar atrophy
more

Clinical features from OMIM:

610743

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 8:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 nystagmus 32 HP:0000639
3 dysarthria 32 HP:0001260
4 gait ataxia 32 HP:0002066
5 limb ataxia 32 HP:0002070
6 dysmetria 32 HP:0001310
7 cerebellar atrophy 32 HP:0001272

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 8:


cerebellar ataxia, gait ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 8

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 8

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 8

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 8:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 8 29 SYNE1

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 8

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 8:

41
Eye, Cerebellum, Brain, Spinal Cord

Publications for Spinocerebellar Ataxia, Autosomal Recessive 8

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 8:

# Title Authors Year
1
Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family. ( 28017257 )
2017
2
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. ( 17503513 )
2007

Variations for Spinocerebellar Ataxia, Autosomal Recessive 8

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 8:

6
(show top 50) (show all 740)
# Gene Variation Type Significance SNP ID Assembly Location
1 SYNE1 SYNE1, IVS84AS, A-G, -2 single nucleotide variant Pathogenic
2 SYNE1 NM_033071.3(SYNE1): c.15705-12A> G single nucleotide variant Pathogenic rs606231134 GRCh38 Chromosome 6, 152321898: 152321898
3 SYNE1 NM_033071.3(SYNE1): c.15705-12A> G single nucleotide variant Pathogenic rs606231134 GRCh37 Chromosome 6, 152643033: 152643033
4 SYNE1 NM_033071.3(SYNE1): c.8716A> T (p.Arg2906Ter) single nucleotide variant Pathogenic rs119103243 GRCh37 Chromosome 6, 152702455: 152702455
5 SYNE1 NM_033071.3(SYNE1): c.8716A> T (p.Arg2906Ter) single nucleotide variant Pathogenic rs119103243 GRCh38 Chromosome 6, 152381320: 152381320
6 SYNE1 SYNE1, 5-BP DEL, NT334338 deletion Pathogenic
7 SYNE1 NM_033071.3(SYNE1): c.22918C> T (p.Gln7640Ter) single nucleotide variant Pathogenic rs119103244 GRCh37 Chromosome 6, 152522973: 152522973
8 SYNE1 NM_033071.3(SYNE1): c.22918C> T (p.Gln7640Ter) single nucleotide variant Pathogenic rs119103244 GRCh38 Chromosome 6, 152201838: 152201838
9 SYNE1 NM_033071.3(SYNE1): c.22156C> T (p.Gln7386Ter) single nucleotide variant Pathogenic rs119103245 GRCh37 Chromosome 6, 152534872: 152534872
10 SYNE1 NM_033071.3(SYNE1): c.22156C> T (p.Gln7386Ter) single nucleotide variant Pathogenic rs119103245 GRCh38 Chromosome 6, 152213737: 152213737
11 SYNE1 NM_033071.3(SYNE1): c.11696_11697delTG (p.Met3899Argfs) deletion Pathogenic rs606231135 GRCh38 Chromosome 6, 152347227: 152347228
12 SYNE1 NM_033071.3(SYNE1): c.11696_11697delTG (p.Met3899Argfs) deletion Pathogenic rs606231135 GRCh37 Chromosome 6, 152668362: 152668363
13 SYNE1 NM_033071.3(SYNE1): c.10789C> T (p.Arg3597Ter) single nucleotide variant Pathogenic rs606231292 GRCh38 Chromosome 6, 152354817: 152354817
14 SYNE1 NM_033071.3(SYNE1): c.10789C> T (p.Arg3597Ter) single nucleotide variant Pathogenic rs606231292 GRCh37 Chromosome 6, 152675952: 152675952
15 SYNE1 NM_033071.3(SYNE1): c.19295A> G (p.Asn6432Ser) single nucleotide variant Likely benign rs144762960 GRCh37 Chromosome 6, 152570360: 152570360
16 SYNE1 NM_033071.3(SYNE1): c.19295A> G (p.Asn6432Ser) single nucleotide variant Likely benign rs144762960 GRCh38 Chromosome 6, 152249225: 152249225
17 SYNE1 NM_033071.3(SYNE1): c.23102G> A (p.Arg7701Gln) single nucleotide variant Likely benign rs138787771 GRCh37 Chromosome 6, 152501416: 152501416
18 SYNE1 NM_033071.3(SYNE1): c.23102G> A (p.Arg7701Gln) single nucleotide variant Likely benign rs138787771 GRCh38 Chromosome 6, 152180281: 152180281
19 SYNE1 NM_033071.3(SYNE1): c.1162G> A (p.Asp388Asn) single nucleotide variant Likely benign rs146366996 GRCh37 Chromosome 6, 152806014: 152806014
20 SYNE1 NM_033071.3(SYNE1): c.1162G> A (p.Asp388Asn) single nucleotide variant Likely benign rs146366996 GRCh38 Chromosome 6, 152484879: 152484879
21 SYNE1 NM_033071.3(SYNE1): c.24136C> T (p.Arg8046Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs144056525 GRCh37 Chromosome 6, 152472789: 152472789
22 SYNE1 NM_033071.3(SYNE1): c.24136C> T (p.Arg8046Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs144056525 GRCh38 Chromosome 6, 152151654: 152151654
23 SYNE1 NM_033071.3(SYNE1): c.24739C> T (p.Leu8247Phe) single nucleotide variant Benign/Likely benign rs141716975 GRCh37 Chromosome 6, 152469204: 152469204
24 SYNE1 NM_033071.3(SYNE1): c.24739C> T (p.Leu8247Phe) single nucleotide variant Benign/Likely benign rs141716975 GRCh38 Chromosome 6, 152148069: 152148069
25 SYNE1 NM_033071.3(SYNE1): c.24614C> G (p.Ala8205Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs142985368 GRCh37 Chromosome 6, 152469329: 152469329
26 SYNE1 NM_033071.3(SYNE1): c.24614C> G (p.Ala8205Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs142985368 GRCh38 Chromosome 6, 152148194: 152148194
27 SYNE1 NM_033071.3(SYNE1): c.24510C> G (p.His8170Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141586001 GRCh37 Chromosome 6, 152469433: 152469433
28 SYNE1 NM_033071.3(SYNE1): c.24510C> G (p.His8170Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141586001 GRCh38 Chromosome 6, 152148298: 152148298
29 SYNE1 NM_033071.3(SYNE1): c.25473G> A (p.Glu8491=) single nucleotide variant Likely benign rs118187988 GRCh37 Chromosome 6, 152457795: 152457795
30 SYNE1 NM_033071.3(SYNE1): c.25473G> A (p.Glu8491=) single nucleotide variant Likely benign rs118187988 GRCh38 Chromosome 6, 152136660: 152136660
31 SYNE1 NM_182961.3(SYNE1): c.25751A> C (p.Asp8584Ala) single nucleotide variant Uncertain significance rs41291047 GRCh37 Chromosome 6, 152456276: 152456276
32 SYNE1 NM_182961.3(SYNE1): c.25751A> C (p.Asp8584Ala) single nucleotide variant Uncertain significance rs41291047 GRCh38 Chromosome 6, 152135141: 152135141
33 SYNE1 NM_033071.3(SYNE1): c.1899A> G (p.Gln633=) single nucleotide variant Benign/Likely benign rs62427038 GRCh37 Chromosome 6, 152786447: 152786447
34 SYNE1 NM_033071.3(SYNE1): c.1899A> G (p.Gln633=) single nucleotide variant Benign/Likely benign rs62427038 GRCh38 Chromosome 6, 152465312: 152465312
35 SYNE1 NM_033071.3(SYNE1): c.2004C> T (p.Asn668=) single nucleotide variant Benign/Likely benign rs149670417 GRCh37 Chromosome 6, 152784602: 152784602
36 SYNE1 NM_033071.3(SYNE1): c.2004C> T (p.Asn668=) single nucleotide variant Benign/Likely benign rs149670417 GRCh38 Chromosome 6, 152463467: 152463467
37 SYNE1 NM_033071.3(SYNE1): c.2903G> A (p.Arg968Gln) single nucleotide variant Benign/Likely benign rs76646638 GRCh37 Chromosome 6, 152776571: 152776571
38 SYNE1 NM_033071.3(SYNE1): c.2903G> A (p.Arg968Gln) single nucleotide variant Benign/Likely benign rs76646638 GRCh38 Chromosome 6, 152455436: 152455436
39 SYNE1 NM_033071.3(SYNE1): c.3095A> T (p.Asp1032Val) single nucleotide variant Uncertain significance rs143093185 GRCh37 Chromosome 6, 152772294: 152772294
40 SYNE1 NM_033071.3(SYNE1): c.3095A> T (p.Asp1032Val) single nucleotide variant Uncertain significance rs143093185 GRCh38 Chromosome 6, 152451159: 152451159
41 SYNE1 NM_033071.3(SYNE1): c.3209T> C (p.Val1070Ala) single nucleotide variant Likely benign rs141464488 GRCh37 Chromosome 6, 152771967: 152771967
42 SYNE1 NM_033071.3(SYNE1): c.3209T> C (p.Val1070Ala) single nucleotide variant Likely benign rs141464488 GRCh38 Chromosome 6, 152450832: 152450832
43 SYNE1 NM_033071.3(SYNE1): c.4128T> A (p.Phe1376Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149109801 GRCh37 Chromosome 6, 152762307: 152762307
44 SYNE1 NM_033071.3(SYNE1): c.4128T> A (p.Phe1376Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149109801 GRCh38 Chromosome 6, 152441172: 152441172
45 SYNE1 NM_033071.3(SYNE1): c.4393_4394delCT (p.Leu1465Valfs) deletion Pathogenic rs794727577 GRCh37 Chromosome 6, 152755018: 152755019
46 SYNE1 NM_033071.3(SYNE1): c.4393_4394delCT (p.Leu1465Valfs) deletion Pathogenic rs794727577 GRCh38 Chromosome 6, 152433883: 152433884
47 SYNE1 NM_033071.3(SYNE1): c.4843G> A (p.Ala1615Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138617999 GRCh37 Chromosome 6, 152749494: 152749494
48 SYNE1 NM_033071.3(SYNE1): c.4843G> A (p.Ala1615Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138617999 GRCh38 Chromosome 6, 152428359: 152428359
49 SYNE1 NM_033071.3(SYNE1): c.5150C> A (p.Ala1717Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs150702500 GRCh37 Chromosome 6, 152746654: 152746654
50 SYNE1 NM_033071.3(SYNE1): c.5150C> A (p.Ala1717Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs150702500 GRCh38 Chromosome 6, 152425519: 152425519

Expression for Spinocerebellar Ataxia, Autosomal Recessive 8

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 8.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 8

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 8

Sources for Spinocerebellar Ataxia, Autosomal Recessive 8

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