SPAX1
MCID: SPS072
MIFTS: 27

Spastic Ataxia 1, Autosomal Dominant (SPAX1)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Ataxia 1, Autosomal Dominant

MalaCards integrated aliases for Spastic Ataxia 1, Autosomal Dominant:

Name: Spastic Ataxia 1, Autosomal Dominant 58 76
Ataxia, Spastic, 1, Autosomal Dominant 30 6 74
Spax1 58 60 76
Ataxia, Spastic, Type 1, Autosomal Dominant 41
Autosomal Dominant Spastic Ataxia Type 1 60

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant spastic ataxia type 1
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset between 10 and 20 years of age
prevalent in newfoundland


HPO:

33
spastic ataxia 1, autosomal dominant:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spastic Ataxia 1, Autosomal Dominant

OMIM : 58 Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Spastic ataxia-1 (SPAX1) is an autosomal dominant form of the disorder with linkage to chromosome 12p13 (summary by Meijer et al., 2002). (108600)

MalaCards based summary : Spastic Ataxia 1, Autosomal Dominant, also known as ataxia, spastic, 1, autosomal dominant, is related to spastic ataxia 2, autosomal recessive and spastic ataxia 5, autosomal recessive, and has symptoms including memory loss and cerebellar ataxia. An important gene associated with Spastic Ataxia 1, Autosomal Dominant is VAMP1 (Vesicle Associated Membrane Protein 1). Affiliated tissues include eye, and related phenotypes are hyperreflexia and supranuclear gaze palsy

UniProtKB/Swiss-Prot : 76 Spastic ataxia 1, autosomal dominant: An autosomal dominant form of spastic ataxia, a progressive neurodegenerative disorder characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance.

Related Diseases for Spastic Ataxia 1, Autosomal Dominant

Graphical network of the top 20 diseases related to Spastic Ataxia 1, Autosomal Dominant:



Diseases related to Spastic Ataxia 1, Autosomal Dominant

Symptoms & Phenotypes for Spastic Ataxia 1, Autosomal Dominant

Human phenotypes related to Spastic Ataxia 1, Autosomal Dominant:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347
2 supranuclear gaze palsy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000605
3 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
4 limb ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002070
5 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
6 memory impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002354
7 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
8 spastic paraplegia 60 33 frequent (33%) Frequent (79-30%) HP:0001258
9 spastic gait 60 33 frequent (33%) Frequent (79-30%) HP:0002064
10 leg muscle stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0008969
11 slow saccadic eye movements 60 33 frequent (33%) Frequent (79-30%) HP:0000514
12 spastic dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0002464
13 spastic ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002497
14 jerky head movements 60 33 frequent (33%) Frequent (79-30%) HP:0006961
15 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
16 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
17 impaired proprioception 60 33 occasional (7.5%) Occasional (29-5%) HP:0010831
18 pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001761
19 dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001332
20 impaired vibration sensation in the lower limbs 60 33 occasional (7.5%) Occasional (29-5%) HP:0002166
21 abnormal eyelid morphology 33 occasional (7.5%) HP:0000492
22 seizures 60 Excluded (0%)
23 dysarthria 33 HP:0001260
24 gait disturbance 33 HP:0001288
25 hypertonia 60 Very frequent (99-80%)
26 abnormality of the eyelid 60 Occasional (29-5%)
27 lower limb spasticity 60 Very frequent (99-80%)
28 abnormality of the cerebrospinal fluid 60 Excluded (0%)
29 generalized amyotrophy 60 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
supranuclear gaze palsy
ocular movement abnormalities
slow saccades

Abdomen Gastrointestinal:
dysphagia

Skeletal Feet:
pes cavus muscle : leg muscle stiffness

Neurologic Central Nervous System:
dysarthria
hyperreflexia
dystonia
spastic paraplegia
spastic ataxia
more
Head And Neck Head:
head jerks

Neurologic Peripheral Nervous System:
decreased vibration sense in the lower limbs (in some patients)

Clinical features from OMIM:

108600

UMLS symptoms related to Spastic Ataxia 1, Autosomal Dominant:


memory loss, cerebellar ataxia

Drugs & Therapeutics for Spastic Ataxia 1, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 1, Autosomal Dominant

Genetic Tests for Spastic Ataxia 1, Autosomal Dominant

Genetic tests related to Spastic Ataxia 1, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Ataxia, Spastic, 1, Autosomal Dominant 30 VAMP1

Anatomical Context for Spastic Ataxia 1, Autosomal Dominant

MalaCards organs/tissues related to Spastic Ataxia 1, Autosomal Dominant:

42
Eye

Publications for Spastic Ataxia 1, Autosomal Dominant

Articles related to Spastic Ataxia 1, Autosomal Dominant:

# Title Authors Year
1
VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. ( 22958904 )
2012
2
A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. ( 11774073 )
2002

Variations for Spastic Ataxia 1, Autosomal Dominant

ClinVar genetic disease variations for Spastic Ataxia 1, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VAMP1 NM_014231.4(VAMP1): c.340+2T> G single nucleotide variant Pathogenic rs878854975 GRCh37 Chromosome 12, 6574054: 6574054
2 VAMP1 NM_014231.4(VAMP1): c.340+2T> G single nucleotide variant Pathogenic rs878854975 GRCh38 Chromosome 12, 6464888: 6464888

Expression for Spastic Ataxia 1, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Ataxia 1, Autosomal Dominant.

Pathways for Spastic Ataxia 1, Autosomal Dominant

GO Terms for Spastic Ataxia 1, Autosomal Dominant

Sources for Spastic Ataxia 1, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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