SPAX1
MCID: SPS072
MIFTS: 26

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 57 74 13
Ataxia, Spastic, 1, Autosomal Dominant 29 6 72
Spax1 57 59 74
Ataxia, Spastic, Type 1, Autosomal Dominant 40
Autosomal Dominant Spastic Ataxia Type 1 59

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic ataxia type 1
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spastic ataxia 1, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

MeSH 44 D002524
ICD10 via Orphanet 34 G11.4
UMLS via Orphanet 73 C1970107
Orphanet 59 ORPHA251282
MedGen 42 C1970107
UMLS 72 C1970107

Summaries for Spastic Ataxia 1, Autosomal Dominant

OMIM : 57 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 onset between the ages of 10 and 20 years. Other clinical features are supranuclear gaze palsy, hyperreflexia, hypertonicity, dystonia, pes cavus, mild ptosis, and decreased vibration sense in the lower limbs. Symptom severity is variable, but neither lipfe span nor cognition is affected (summary by Meijer et al., 2002 and Bourassa et al., 2012). (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 : 74 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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
2 supranuclear gaze palsy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000605
3 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
4 memory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002354
5 limb ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002070
6 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
7 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
8 spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0001258
9 spastic gait 59 32 frequent (33%) Frequent (79-30%) HP:0002064
10 leg muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0008969
11 slow saccadic eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0000514
12 spastic dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0002464
13 spastic ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002497
14 jerky head movements 59 32 frequent (33%) Frequent (79-30%) HP:0006961
15 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
16 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
17 impaired proprioception 59 32 occasional (7.5%) Occasional (29-5%) HP:0010831
18 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
19 dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001332
20 impaired vibration sensation in the lower limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0002166
21 abnormal eyelid morphology 32 occasional (7.5%) HP:0000492
22 seizures 59 Excluded (0%)
23 dysarthria 32 HP:0001260
24 gait disturbance 32 HP:0001288
25 hypertonia 59 Very frequent (99-80%)
26 abnormality of the eyelid 59 Occasional (29-5%)
27 lower limb spasticity 59 Very frequent (99-80%)
28 abnormality of the cerebrospinal fluid 59 Excluded (0%)
29 generalized amyotrophy 59 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

57
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 29 VAMP1

Anatomical Context for Spastic Ataxia 1, Autosomal Dominant

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

41
Eye

Publications for Spastic Ataxia 1, Autosomal Dominant

Articles related to Spastic Ataxia 1, Autosomal Dominant:

# Title Authors PMID Year
1
VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. 8 71
22958904 2012
2
A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. 8 71
11774073 2002
3
A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsy. 8
15523628 2004
4
Hereditary Ataxia Overview 71
20301317 1998
5
HEREDITARY SPASTIC ATAXIA SIMULATING DISSEMINATED SCLEROSIS. 8
14083222 1963

Variations for Spastic Ataxia 1, Autosomal Dominant

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 VAMP1 NM_014231.5(VAMP1): c.340+2T> G single nucleotide variant Pathogenic rs878854975 12:6574054-6574054 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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