SPAX4
MCID: SPS208
MIFTS: 28

Spastic Ataxia 4, Autosomal Recessive (SPAX4)

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

Aliases & Classifications for Spastic Ataxia 4, Autosomal Recessive

MalaCards integrated aliases for Spastic Ataxia 4, Autosomal Recessive:

Name: Spastic Ataxia 4, Autosomal Recessive 57 20 72 70
Spax4 57 20 58 72
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome 20 58
Autosomal Recessive Spastic Ataxia Type 4 20 58
Ataxia, Spastic, 4, Autosomal Recessive 29 6
Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria 20
Autosomal Recessive Spastic Ataxia 4 20

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive disorder
onset in early childhood
most retain independent ambulation
one family from the old order amish has been reported (last curated january 2015)


HPO:

31
spastic ataxia 4, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 613672
OMIM Phenotypic Series 57 PS108600
MeSH 44 D002524
ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA254343
MedGen 41 C3150925
UMLS 70 C3150925

Summaries for Spastic Ataxia 4, Autosomal Recessive

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 254343 Definition A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy.

MalaCards based summary : Spastic Ataxia 4, Autosomal Recessive, also known as spax4, is related to ataxia and polyneuropathy, adult-onset and spastic ataxia 4, and has symptoms including paraparesis, spastic An important gene associated with Spastic Ataxia 4, Autosomal Recessive is MTPAP (Mitochondrial Poly(A) Polymerase). Affiliated tissues include eye and tongue, and related phenotypes are hyperreflexia and dysarthria

UniProtKB/Swiss-Prot : 72 Spastic ataxia 4, autosomal recessive: A slowly progressive neurodegenerative disease characterized by cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy.

More information from OMIM: 613672 PS108600

Related Diseases for Spastic Ataxia 4, Autosomal Recessive

Symptoms & Phenotypes for Spastic Ataxia 4, Autosomal Recessive

Human phenotypes related to Spastic Ataxia 4, Autosomal Recessive:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
3 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
4 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
5 spastic paraparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002313
6 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
7 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
8 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
9 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
10 progressive gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0007240
11 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
12 movement abnormality of the tongue 58 31 frequent (33%) Frequent (79-30%) HP:0000182
13 lower limb hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0006895
14 upper limb hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0200049
15 emotional lability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000712
16 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
17 delayed speech and language development 31 HP:0000750
18 spastic ataxia 31 HP:0002497
19 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
optic atrophy

Head And Neck Face:
brisk jaw jerk

Neurologic Behavioral Psychiatric Manifestations:
emotional lability (in some)

Neurologic Central Nervous System:
dysarthria
spastic paraparesis
extensor plantar responses
delayed walking
learning difficulties
more
Head And Neck Mouth:
poor oromandibular coordination
slow, spastic tongue movements

Laboratory Abnormalities:
fibroblasts shows defects in oxidative phosphorylation
decreased amount and activity of mitochondrial complexes i and iv

Clinical features from OMIM®:

613672 (Updated 20-May-2021)

UMLS symptoms related to Spastic Ataxia 4, Autosomal Recessive:


paraparesis, spastic

Drugs & Therapeutics for Spastic Ataxia 4, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 4, Autosomal Recessive

Genetic Tests for Spastic Ataxia 4, Autosomal Recessive

Genetic tests related to Spastic Ataxia 4, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Ataxia, Spastic, 4, Autosomal Recessive 29 MTPAP

Anatomical Context for Spastic Ataxia 4, Autosomal Recessive

MalaCards organs/tissues related to Spastic Ataxia 4, Autosomal Recessive:

40
Eye, Tongue

Publications for Spastic Ataxia 4, Autosomal Recessive

Articles related to Spastic Ataxia 4, Autosomal Recessive:

# Title Authors PMID Year
1
A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression. 6 57
25008111 2014
2
Defective mitochondrial mRNA maturation is associated with spastic ataxia. 6 57
20970105 2010
3
Structure of mitochondrial poly(A) RNA polymerase reveals the structural basis for dimerization, ATP selectivity and the SPAX4 disease phenotype. 61
26319014 2015

Variations for Spastic Ataxia 4, Autosomal Recessive

ClinVar genetic disease variations for Spastic Ataxia 4, Autosomal Recessive:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MTPAP NM_018109.3(MTPAP):c.1432A>G (p.Asn478Asp) SNV Pathogenic 18391 rs267606900 GRCh37: 10:30602855-30602855
GRCh38: 10:30313926-30313926
2 MTPAP NM_018109.4(MTPAP):c.526del (p.Leu176fs) Deletion Pathogenic 1033465 GRCh37: 10:30629184-30629184
GRCh38: 10:30340255-30340255
3 MTPAP NM_018109.3(MTPAP):c.1468G>T (p.Val490Leu) SNV Uncertain significance 374341 rs1057518710 GRCh37: 10:30602819-30602819
GRCh38: 10:30313890-30313890
4 MTPAP NM_018109.3(MTPAP):c.346G>A (p.Val116Ile) SNV Uncertain significance 447743 rs560622337 GRCh37: 10:30629364-30629364
GRCh38: 10:30340435-30340435
5 MTPAP NM_018109.4(MTPAP):c.1673T>C (p.Leu558Pro) SNV Uncertain significance 1028088 GRCh37: 10:30602614-30602614
GRCh38: 10:30313685-30313685
6 MTPAP NM_018109.4(MTPAP):c.842C>G (p.Thr281Ser) SNV Uncertain significance 1029511 GRCh37: 10:30615503-30615503
GRCh38: 10:30326574-30326574
7 MTPAP NM_018109.3(MTPAP):c.468G>C (p.Gln156His) SNV Uncertain significance 805055 rs547303023 GRCh37: 10:30629242-30629242
GRCh38: 10:30340313-30340313
8 MTPAP NM_018109.3(MTPAP):c.555+19C>T SNV Benign 138281 rs1047988 GRCh37: 10:30629136-30629136
GRCh38: 10:30340207-30340207
9 MTPAP NM_018109.3(MTPAP):c.484C>T (p.Arg162Cys) SNV Benign 129624 rs1047991 GRCh37: 10:30629226-30629226
GRCh38: 10:30340297-30340297

UniProtKB/Swiss-Prot genetic disease variations for Spastic Ataxia 4, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 MTPAP p.Asn478Asp VAR_064907 rs267606900

Expression for Spastic Ataxia 4, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Ataxia 4, Autosomal Recessive.

Pathways for Spastic Ataxia 4, Autosomal Recessive

GO Terms for Spastic Ataxia 4, Autosomal Recessive

Sources for Spastic Ataxia 4, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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