MCID: SPN105
MIFTS: 31

Spinocerebellar Ataxia 4

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases

Aliases & Classifications for Spinocerebellar Ataxia 4

MalaCards integrated aliases for Spinocerebellar Ataxia 4:

Name: Spinocerebellar Ataxia 4 57 53 29 13
Spinocerebellar Ataxia Type 4 12 53 59 15 73
Sca4 57 53 59
Spinocerebellar Ataxia, Autosomal Dominant, with Sensory Axonal Neuropathy 57
Spinocerebellar Ataxia Autosomal Dominant with Sensory Axonal Neuropathy 53

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 4
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in fourth and fifth decades
genetic anticipation has been observed


HPO:

32
spinocerebellar ataxia 4:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 600223
Disease Ontology 12 DOID:0050957
Orphanet 59 ORPHA98765
UMLS via Orphanet 74 C0752122
ICD10 via Orphanet 34 G11.2
MedGen 42 C0752122
UMLS 73 C0752122

Summaries for Spinocerebellar Ataxia 4

NIH Rare Diseases : 53 Spinocerebellar ataxia 4 (SCA4) is a very rare form of hereditary progressive movement disorder. Symptoms include muscle weakness (atrophy) and difficulty coordinating body movements (ataxia), most notably causing a jerky, unsteady walking style (gait) and difficulty speaking (dysarthria). A distinctive feature of SCA4 is the progressive loss of feeling or sensation in the hands and feet (peripheral neuropathy) and loss of reflexes. Degeneration of the area of the brain controlling balance and movement (cerebellar atrophy) causes symptoms to worsen over decades. The symptoms of SCA4 typically begin during the fourth or fifth decade of life, but can begin as early as the late teen years.. SCA4 is inherited in an autosomal dominant manner. Although SCA4 has been linked to a location on chromosome 16, (16q22.1), the gene which causes SCA4 when mutated has not been found. Diagnosis is based on symptoms consistent with the disease. Although there is no cure, treatment options may include physical therapy, assistive devices, and medications depending on the type and severity of symptoms present. 

MalaCards based summary : Spinocerebellar Ataxia 4, also known as spinocerebellar ataxia type 4, is related to spinocerebellar ataxia 31 and aceruloplasminemia. An important gene associated with Spinocerebellar Ataxia 4 is PLEKHG4 (Pleckstrin Homology And RhoGEF Domain Containing G4). Affiliated tissues include brain, and related phenotypes are ataxia and dysarthria

Description from OMIM: 600223

Related Diseases for Spinocerebellar Ataxia 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 31 30.9 PDYN PLEKHG4
2 aceruloplasminemia 29.0 PDYN PLEKHG4
3 autosomal dominant cerebellar ataxia 28.9 PDYN PLEKHG4
4 spinocerebellar ataxia, x-linked 4 11.1
5 spinocerebellar ataxia 18 10.9
6 mitochondrial dna depletion syndrome 7 10.9
7 ataxia-oculomotor apraxia 3 9.9
8 axonal neuropathy 9.9
9 neuropathy 9.9
10 cerebellar disease 9.6 PDYN PLEKHG4

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 4:



Diseases related to Spinocerebellar Ataxia 4

Symptoms & Phenotypes for Spinocerebellar Ataxia 4

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
cerebellar atrophy
limb dysmetria
cerebellar ataxia, progressive
extensor plantar responses

Head And Neck Eyes:
impaired smooth pursuit

Neurologic Peripheral Nervous System:
sensory neuropathy
areflexia
hyporeflexia
distal sensory impairment
absent or reduced sural nerve sensory responses


Clinical features from OMIM:

600223

Human phenotypes related to Spinocerebellar Ataxia 4:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
2 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
3 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
4 motor deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0002333
5 impaired proprioception 59 32 hallmark (90%) Very frequent (99-80%) HP:0010831
6 sensory axonal neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003390
7 areflexia 59 32 Occasional (29-5%) HP:0001284
8 impaired vibratory sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002495
9 absent achilles reflex 59 32 hallmark (90%) Very frequent (99-80%) HP:0003438
10 impaired tactile sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0010830
11 motor axonal neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007002
12 sensory neuropathy 32 HP:0000763
13 peripheral neuropathy 59 Occasional (29-5%)
14 babinski sign 32 HP:0003487
15 progressive cerebellar ataxia 32 HP:0002073
16 hyporeflexia 32 HP:0001265
17 cerebellar atrophy 32 HP:0001272
18 distal sensory impairment 32 HP:0002936
19 impaired smooth pursuit 32 HP:0007772
20 limb dysmetria 32 HP:0002406

Drugs & Therapeutics for Spinocerebellar Ataxia 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 4

Genetic Tests for Spinocerebellar Ataxia 4

Genetic tests related to Spinocerebellar Ataxia 4:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 4 29

Anatomical Context for Spinocerebellar Ataxia 4

MalaCards organs/tissues related to Spinocerebellar Ataxia 4:

41
Brain

Publications for Spinocerebellar Ataxia 4

Articles related to Spinocerebellar Ataxia 4:

# Title Authors Year
1
Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic. ( 18293026 )
2008
2
Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration. ( 16362839 )
2006
3
Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region. ( 12796826 )
2003

Variations for Spinocerebellar Ataxia 4

Expression for Spinocerebellar Ataxia 4

Search GEO for disease gene expression data for Spinocerebellar Ataxia 4.

Pathways for Spinocerebellar Ataxia 4

GO Terms for Spinocerebellar Ataxia 4

Sources for Spinocerebellar Ataxia 4

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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