SCA4
MCID: SPN105
MIFTS: 38

Spinocerebellar Ataxia 4 (SCA4)

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

Aliases & Classifications for Spinocerebellar Ataxia 4

MalaCards integrated aliases for Spinocerebellar Ataxia 4:

Name: Spinocerebellar Ataxia 4 57 20 13
Spinocerebellar Ataxia Type 4 12 20 58 29 15 70
Sca4 57 20 58
Spinocerebellar Ataxia, Autosomal Dominant, with Sensory Axonal Neuropathy 57
Spinocerebellar Ataxia Autosomal Dominant with Sensory Axonal Neuropathy 20
Spinocerebellar Ataxias 44

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 4
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
spinocerebellar ataxia 4:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050957
OMIM® 57 600223
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
SNOMED-CT 67 715755008
ICD10 via Orphanet 33 G11.2
UMLS via Orphanet 71 C0752122
Orphanet 58 ORPHA98765
MedGen 41 C0752122
UMLS 70 C0752122

Summaries for Spinocerebellar Ataxia 4

GARD : 20 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 18 and dentatorubral-pallidoluysian atrophy. An important gene associated with Spinocerebellar Ataxia 4 is PLEKHG4 (Pleckstrin Homology And RhoGEF Domain Containing G4). The drugs TA 0910 and Nootropic Agents have been mentioned in the context of this disorder. Affiliated tissues include cortex, cerebellum and brain, and related phenotypes are impaired vibratory sensation and impaired proprioception

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, dysarthria and peripheral neuropathy, has material basis in mutation in the SCA4 gene.

More information from OMIM: 600223 PS164400

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 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 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia, Autosomal Recessive 28 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:

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 18 31.3 TMEM240 PLEKHG4
2 dentatorubral-pallidoluysian atrophy 30.3 TTBK2 TMEM240 PLEKHG4
3 autosomal dominant cerebellar ataxia 29.6 TTBK2 TMEM240 PLEKHG4
4 spinocerebellar ataxia 15 29.5 TTBK2 SUMF1
5 hereditary ataxia 29.5 TTBK2 TMEM240 PLEKHG4
6 cerebellar disease 29.2 TTBK2 PLEKHG4
7 spinocerebellar ataxia, x-linked 4 11.3
8 spinocerebellar ataxia, autosomal recessive 4 11.3
9 spinocerebellar ataxia 1 11.2
10 cerebellar degeneration 11.2
11 spinocerebellar ataxia 5 11.1
12 spinocerebellar ataxia 13 11.1
13 spinocerebellar ataxia 31 11.0
14 machado-joseph disease 11.0
15 mitochondrial dna depletion syndrome 7 11.0
16 huntington disease 10.5
17 multiple system atrophy 1 10.4
18 movement disease 10.4
19 dystonia 10.4
20 spinocerebellar ataxia 6 10.4
21 kearns-sayre syndrome 10.4
22 spinocerebellar ataxia 2 10.4
23 spinocerebellar ataxia 7 10.4
24 tremor 10.4
25 parkinsonism 10.3
26 peripheral nervous system disease 10.3
27 olivopontocerebellar atrophy 10.3
28 ataxia and polyneuropathy, adult-onset 10.2
29 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.2
30 spinocerebellar ataxia 17 10.2
31 chorea, childhood-onset, with psychomotor retardation 10.2
32 apraxia 10.2
33 choreatic disease 10.2
34 retinal degeneration 10.2
35 episodic ataxia 10.2
36 multiple system atrophy, cerebellar type 10.2
37 oculomotor apraxia 10.2
38 sensory peripheral neuropathy 10.1
39 ocular motor apraxia 10.1
40 fragile x tremor/ataxia syndrome 10.1
41 spinocerebellar ataxia 14 10.1
42 spinocerebellar ataxia 35 10.1
43 analbuminemia 10.1
44 polyneuropathy 10.1
45 autonomic dysfunction 10.1
46 myoclonus 10.1
47 spotted fever 10.0
48 amyotrophic lateral sclerosis 1 10.0
49 episodic ataxia, type 2 10.0
50 candidiasis, familial, 1 10.0

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



Diseases related to Spinocerebellar Ataxia 4

Symptoms & Phenotypes for Spinocerebellar Ataxia 4

Human phenotypes related to Spinocerebellar Ataxia 4:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 impaired vibratory sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002495
2 impaired proprioception 58 31 hallmark (90%) Very frequent (99-80%) HP:0010831
3 absent achilles reflex 58 31 hallmark (90%) Very frequent (99-80%) HP:0003438
4 impaired tactile sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0010830
5 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
6 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
7 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
8 motor deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0002333
9 motor axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007002
10 sensory axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003390
11 areflexia 58 31 Occasional (29-5%) HP:0001284
12 sensory neuropathy 31 HP:0000763
13 peripheral neuropathy 58 Occasional (29-5%)
14 hyporeflexia 31 HP:0001265
15 babinski sign 31 HP:0003487
16 cerebellar atrophy 31 HP:0001272
17 distal sensory impairment 31 HP:0002936
18 progressive cerebellar ataxia 31 HP:0002073
19 impaired smooth pursuit 31 HP:0007772
20 limb dysmetria 31 HP:0002406

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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:
areflexia
sensory neuropathy
hyporeflexia
distal sensory impairment
absent or reduced sural nerve sensory responses

Clinical features from OMIM®:

600223 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spinocerebellar Ataxia 4

Drugs for Spinocerebellar Ataxia 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 TA 0910 Phase 4
2 Nootropic Agents Phase 4
3
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
4
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
5
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
6 Protective Agents Phase 2, Phase 3
7 Excitatory Amino Acid Antagonists Phase 2, Phase 3
8 Neuroprotective Agents Phase 2, Phase 3
9 Neurotransmitter Agents Phase 3
10 Anticonvulsants Phase 2, Phase 3
11 Antidepressive Agents Phase 2, Phase 3
12 Psychotropic Drugs Phase 2, Phase 3
13 Hormones Phase 3
14 Thyrotropin-Releasing Hormone Phase 3
15
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
16
Menthol Approved Phase 2 2216-51-5 16666
17 Immunoglobulins Phase 2
18 Immunologic Factors Phase 2
19 Antibodies Phase 2
20 Immunoglobulins, Intravenous Phase 2
21 Rho(D) Immune Globulin Phase 2
22 gamma-Globulins Phase 2
23 Nicotinic Agonists Phase 2
24 Cholinergic Agents Phase 2
25
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 1 303-98-0 5281915
26 Pharmaceutical Solutions Phase 1
27 Trace Elements Phase 1
28 Nutrients Phase 1
29 Vitamins Phase 1
30 Ubiquinone Phase 1
31 Micronutrients Phase 1
32
4-Aminopyridine Approved 504-24-5 1727
33
tannic acid Approved 1401-55-4
34
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
35
Dopamine Approved 62-31-7, 51-61-6 681
36 Potassium Channel Blockers
37 Omega 3 Fatty Acid
38 Dopamine agonists

Interventional clinical trials:

(show top 50) (show all 73)
# Name Status NCT ID Phase Drugs
1 Multicenter, Randomized, Double-blind, Placebo-controlled, Phase IV Clinical Trial to Evaluate and Compare the Safety and Efficacy of C-Trelin OD Tab 5mg(Taltirelin Hydrate) in Patients With Ataxia Induced by Spinocerebellar Degeneration Recruiting NCT04107740 Phase 4 C-Trelin OD Tab(5mg Taltirelin Hydrate);Placebo
2 Riluzole in Patients With Spinocerebellar Ataxia Type 7: a Randomized , Double-blind, Placebo-controlled Pilot Trial With a Lead in Phase Unknown status NCT03660917 Phase 2, Phase 3 Riluzole;Placebo
3 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Unknown status NCT03347344 Phase 3 Riluzole;Placebo
4 Randomized Clinical Trial to Assess the Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Completed NCT01096082 Phase 2, Phase 3 Lithium Carbonate;Placebo
5 A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970137 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
6 A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970124 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
7 An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970111 Phase 3 KPS-0373, High dose;KPS-0373, Low dose
8 A Phase III Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT01970098 Phase 3 KPS-0373, High dose;KPS-0373, Low dose;Placebo
9 An Additional Phase III Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) Completed NCT02889302 Phase 3 KPS-0373;Placebo
10 An Open Pilot Trial of BHV-4157 in Adult Subjects With Cerebellar Ataxia Active, not recruiting NCT03408080 Phase 3 BHV-4157
11 A Phase IIb/III, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia Active, not recruiting NCT02960893 Phase 2, Phase 3 Troriluzole;Placebo;Troriluzole
12 A Phase III, Long-Term, Randomized, Double-blind, Placebo-controlled Trial of Troriluzole in Adult Subjects With Spinocerebellar Ataxia. Active, not recruiting NCT03701399 Phase 3 troriluzole;Placebos
13 A Phase II, Randomized, Double-Blind, Placebo-Controlled, Single-Center Study to Evaluate the Safety and Efficacy of Stemchymal® Infusion for the Treatment of Polyglutamine Spinocerebellar Ataxia Unknown status NCT02540655 Phase 2
14 A Pilot, Randomized, Double-blind, Placebo-controlled Phase I Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Completed NCT00992771 Phase 2 varenicline;placebo
15 Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia Completed NCT01350440 Phase 2
16 The Influence of Deep Repetitive Transcranial Magnetic Stimulation (TMS) on Cerebellar Signs in Patients With Spinocerebellar Ataxia Type 3 (SCA3 - Machado Joseph Disease) Completed NCT02039206 Phase 2
17 Randomized, Placebo-controlled Trial to Test Safety, Tolerability and Efficacy of Lithium Carbonate in Spinocerebellar Ataxia 2 Completed NCT00998634 Phase 2 LITHIUM CARBONATE
18 The Efficacy of High-Dose Intravenous Immunoglobulin Therapy In Patients With Cerebellar Degeneration: A Double Blind, Placebo Controlled Trial Completed NCT00034242 Phase 2 high-dose intravenous immunoglobulin (IVIG)
19 An Open-label, Phase II Study of KPS-0373 in Patients With SCD Completed NCT00863538 Phase 2 KPS-0373
20 A Single-Center, Randomized, Double-Blind, Parallel-Group, Dose-Controlled Study, to Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta® in Patients With Machado-Joseph Disease Completed NCT02147886 Phase 2 Cabaletta for IV infusion once weekly during 24 weeks;Cabaletta for IV infusion once weekly during 24 weeks
21 A Double-blind, Placebo-controlled, Crossover Study, Followed by Open-label Study of KPS-0373 in Patients With SCD Completed NCT01004016 Phase 2 KPS-0373;Placebo
22 A Clinical Research on the Safety/Efficacy of Umbilical Cord Mesenchymal Stem Cells Therapy for Patients With Spinocerebellar Ataxia Not yet recruiting NCT03378414 Phase 2
23 Phase 2 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety, Tolerability, and Efficacy of CAD-1883 in Adults With Spinocerebellar Ataxia (Synchrony-1) Suspended NCT04301284 Phase 2 CAD-1883;Placebos
24 Phenylbutyrate in SCA3: a Double-blind, Placebo-controlled Study to Determine Safety and Efficacy of Sodium Phenylbutyrate in Patients With SCA3 Withdrawn NCT01096095 Phase 2 Placebo;Sodium Phenylbutyrate
25 An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias Unknown status NCT02287064 Phase 1 Intravenous Immune Globulin (IVIG)
26 Pilot Study of Tolerability of Lithium Therapy in Patients With Spinocerebellar Ataxia Type I (SCA1) Completed NCT00683943 Phase 1 Lithium Carbonate
27 Safety and Tolerability of Coenzyme Q10 in Adult-Onset Sporadic Spinocerebellar Ataxia Completed NCT00957216 Phase 1 Placebo (sugar pill);Coenzyme Q10
28 Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations Unknown status NCT00136630
29 Prospective Study of Individuals at Risk for Spinocerebellar Ataxia Type 1, Type 2, Type 3, Type 6 and Type 7 (SCA1, SCA2, SCA3, SCA6, SCA7) Unknown status NCT01037777
30 Slowing Down Disease Progression in Premanifest SCA: a Piloting Interventional Exergame Trial Unknown status NCT02867969
31 Machado-Joseph Disease in Israel: Clinical Phenotype and Genotype of a Jew Yemenite Subpopulation Unknown status NCT02175290
32 Therapeutic Effect of Dalfampridine on Gait Incoordination in Spinocerebellar Ataxias- A Randomized, Double-blinded, Placebo-controlled, Crossover Clinical Trial Completed NCT01811706 Dalfampridine;Placebo
33 Utility Of Home Based Gait Monitoring, Performance Scores And Functional Visual Assessment In Spinocerebellar Ataxias (SCA) Completed NCT00654251
34 Integrative Medicine and Tai-chi in Clinical Status of Spinocerebellar Ataxia Completed NCT03687190 conventional medicine
35 Clinical Effects of Oral Trehalose In Patients With Spinocerebellar Ataxia 3: A Pilot Study Completed NCT04426149
36 Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10) Completed NCT00004306
37 Translating Molecular Pathology Into a Therapeutic Strategy in SCA38, a Newly Identified Form of Spinocerebellar Ataxia Completed NCT03109626
38 Neuromuscular Electrical Stimulation on Median Nerve Facilitates Low Motor Cortex Excitability in Human With Spinocerebellar Ataxia Completed NCT02103075
39 Characterization of the Parkinsonism and Other Non-ataxia Spectrum and Striatal Dopaminergic Degeneration in Spinocerebellar Ataxia Type 6 Completed NCT01934998
40 Identification of Biomarkers in Patients With Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
41 Rehabilitative Trial With Cerebello-Spinal tDCS for the Treatment of Neurodegenerative Ataxia Completed NCT03120013
42 Effects of Aerobic Exercise on Degenerative Cerebellar Disease Completed NCT03745248
43 Dysmetria in Motor Function in SCA: Mechanisms and Rehabilitation Completed NCT02488031
44 Transcranial Magnetic Stimulation (TMS) in Spino-Cerebellar Ataxia Completed NCT01975909
45 Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND) Completed NCT02179333
46 Coordination Training With Complete Body Video Games in Children and Adults With Degenerative Ataxias Completed NCT02874911
47 Cerebello-Spinal tDCS as Rehabilitative Intervention in Neurodegenerative Ataxias: a Randomized, Double-blind, Sham-controlled Trial Followed by an Open-label Phase Completed NCT04153110
48 Effect of Repetitive Transcranial Magnetic Stimulation With Intensive Physical Therapy in Cerebellar Ataxia: A Pilot Study Completed NCT04595578
49 The Investigation of the Pre-movement Facilitation of Agonist-antagonist Muscles and the Effect of the Feedforward Rehabilitation in Individuals With Hypermetria Completed NCT01983670
50 The Effect of Whole Body Vibration Training on Neuromuscular Property in Individuals With Ataxia Completed NCT01983631

Search NIH Clinical Center for Spinocerebellar Ataxia 4

Cochrane evidence based reviews: spinocerebellar ataxias

Genetic Tests for Spinocerebellar Ataxia 4

Genetic tests related to Spinocerebellar Ataxia 4:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 4 29

Anatomical Context for Spinocerebellar Ataxia 4

MalaCards organs/tissues related to Spinocerebellar Ataxia 4:

40
Cortex, Cerebellum, Brain

Publications for Spinocerebellar Ataxia 4

Articles related to Spinocerebellar Ataxia 4:

(show all 13)
# Title Authors PMID Year
1
Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic. 61 20 57
21267591 2011
2
Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. 20 57
8755926 1996
3
Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region. 61 57
12796826 2003
4
Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration. 20 61
16362839 2006
5
Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic. 61
18293026 2008
6
Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese. 61
17030774 2006
7
Spinocerebellar ataxia type 4. Investigation of 34 candidate genes. 61
15999233 2005
8
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. 61
15455264 2004
9
Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan. 61
12624721 2003
10
[Autosomal dominant cortical cerebellar atrophy (ADCCA) linked to chromosome 16q]. 61
12235813 2001
11
A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan. 61
11322654 2001
12
Quantitative PCR analysis of different splice forms of NFAT5 revealed specific gene expression in fetal and adult brain. 61
11072102 2000
13
[Spinocerebellar ataxia type 4 (SCA4)]. 61
10434651 1999

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 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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