SPAX1
MCID: SPS072
MIFTS: 27

Spastic Ataxia 1, Autosomal Dominant (SPAX1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases, Eye 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 75 13
Ataxia, Spastic, 1, Autosomal Dominant 29 6 73
Spax1 57 59 75
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:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


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 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 cerebellar ataxia and memory loss. 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 supranuclear gaze palsy and hyperreflexia

UniProtKB/Swiss-Prot : 75 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

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

Human phenotypes related to Spastic Ataxia 1, Autosomal Dominant:

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

UMLS symptoms related to Spastic Ataxia 1, Autosomal Dominant:


cerebellar ataxia, memory loss

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

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 GRCh38 Chromosome 12, 6464888: 6464888
2 VAMP1 NM_014231.4(VAMP1): c.340+2T> G single nucleotide variant Pathogenic rs878854975 GRCh37 Chromosome 12, 6574054: 6574054

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 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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