MCID: SPN366
MIFTS: 35

Spinocerebellar Ataxia with Axonal Neuropathy Type 2

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

Aliases & Classifications for Spinocerebellar Ataxia with Axonal Neuropathy Type 2

MalaCards integrated aliases for Spinocerebellar Ataxia with Axonal Neuropathy Type 2:

Name: Spinocerebellar Ataxia with Axonal Neuropathy Type 2 53 59
Ataxia-Oculomotor Apraxia Type 2 53 59
Scan 2 53 59
Scar1 53 59
Aoa2 53 59
Spinocerebellar Ataxia, Autosomal Recessive 1 73
Autosomal Recessive Spinocerebellar Ataxia-1 53
Scan2 53

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia with axonal neuropathy type 2
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:



Summaries for Spinocerebellar Ataxia with Axonal Neuropathy Type 2

NIH Rare Diseases : 53 Spinocerebellar ataxia with axonal neuropathy type 2 (SCAN2) is a rare condition that affects muscle control and coordination. Ataxia (difficulty coordinating movements) is generally the earliest sign of the condition and is often diagnosed between age seven and 25 years. Other signs and symptoms may include sensorimotor neuropathy, mild cognitive impairment and less commonly, movement disorders. Approximately half of affected people also experience, oculomotor apraxia which makes it difficult to move the eyes from side-to side in the desired direction. SCAN2 is caused by changes (mutations) in the SETX gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Spinocerebellar Ataxia with Axonal Neuropathy Type 2, also known as ataxia-oculomotor apraxia type 2, is related to spinocerebellar ataxia, autosomal recessive 1 and apraxia. An important gene associated with Spinocerebellar Ataxia with Axonal Neuropathy Type 2 is HCHGQ3 (Hematocrit/Hemoglobin Quantitative Trait Locus 3). The drugs Regadenoson and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and liver, and related phenotypes are ataxia and areflexia

Related Diseases for Spinocerebellar Ataxia with Axonal Neuropathy Type 2

Diseases in the Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy family:

Spinocerebellar Ataxia Type 1 with Axonal Neuropathy Spinocerebellar Ataxia with Axonal Neuropathy Type 2

Diseases related to Spinocerebellar Ataxia with Axonal Neuropathy Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 1 30.8 PIK3R5 SETX
2 apraxia 29.2 PIK3R5 SETX
3 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.3

Symptoms & Phenotypes for Spinocerebellar Ataxia with Axonal Neuropathy Type 2

Human phenotypes related to Spinocerebellar Ataxia with Axonal Neuropathy Type 2:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 areflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001284
3 cerebellar vermis atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006855
4 sensorimotor neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007141
5 gaze-evoked nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000640
6 oculomotor apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0000657
7 saccadic smooth pursuit 59 32 frequent (33%) Frequent (79-30%) HP:0001152
8 gait imbalance 59 32 frequent (33%) Frequent (79-30%) HP:0002141
9 sensory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0003474
10 elevated alpha-fetoprotein 59 32 frequent (33%) Frequent (79-30%) HP:0006254
11 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
12 choreoathetosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001266
13 dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001332
14 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
15 postural tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002174
16 head tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002346
17 urinary bladder sphincter dysfunction 59 32 occasional (7.5%) Occasional (29-5%) HP:0002839
18 hypoalbuminemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003073
19 hypercholesterolemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003124
20 elevated serum creatine phosphokinase 59 32 occasional (7.5%) Occasional (29-5%) HP:0003236
21 babinski sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003487
22 abnormal pyramidal signs 59 Occasional (29-5%)

Drugs & Therapeutics for Spinocerebellar Ataxia with Axonal Neuropathy Type 2

Drugs for Spinocerebellar Ataxia with Axonal Neuropathy Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Regadenoson Approved, Investigational Phase 4 313348-27-5 219024
2
Adenosine Approved, Investigational Phase 4 58-61-7 60961
3
Aminophylline Approved Phase 4 317-34-0 9433
4 Respiratory System Agents Phase 4,Not Applicable
5 Neurotransmitter Agents Phase 4,Phase 2,Not Applicable
6 Anti-Asthmatic Agents Phase 4,Not Applicable
7 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable
8 Protective Agents Phase 4,Phase 2,Not Applicable
9 Autonomic Agents Phase 4,Phase 2,Not Applicable
10 Bronchodilator Agents Phase 4,Not Applicable
11 Phosphodiesterase Inhibitors Phase 4
12 Purinergic P1 Receptor Antagonists Phase 4
13
Ethanol Approved Phase 3,Phase 1,Not Applicable 64-17-5 702
14
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
15 Ubiquinone Phase 3
16 Micronutrients Phase 3
17 Complement System Proteins Phase 3
18 Trace Elements Phase 3
19 Vitamins Phase 3
20 Lecithin Nutraceutical Phase 3
21
Nicotine Approved Phase 2,Not Applicable 54-11-5 942 89594
22
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
23
Pramipexole Approved, Investigational Phase 2 104632-26-0 59868 119570
24
Levodopa Approved Phase 2 59-92-7 6047
25
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
26 Dopamine agonists Phase 2
27 Central Nervous System Stimulants Phase 2
28 Cholinergic Agents Phase 2
29 Nicotinic Agonists Phase 2
30 Vaccines Phase 2,Early Phase 1
31 Dopamine Agents Phase 2
32 Antioxidants Phase 2
33 Antiparkinson Agents Phase 2
34
Naltrexone Approved, Investigational, Vet_approved Phase 1 16590-41-3 5360515
35
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 1 437-38-7 3345
36
Pembrolizumab Approved Phase 1 1374853-91-4
37
nivolumab Approved Phase 1 946414-94-4
38
Carfentanil Illicit, Investigational, Vet_approved Phase 1 59708-52-0
39 Analgesics Phase 1
40 Central Nervous System Depressants Phase 1,Not Applicable
41 Adjuvants, Anesthesia Phase 1
42 Narcotic Antagonists Phase 1
43 Narcotics Phase 1
44 Analgesics, Opioid Phase 1
45 Anesthetics Phase 1
46 Anesthetics, General Phase 1
47 Anesthetics, Intravenous Phase 1
48 Opiate Alkaloids Phase 1
49
Serotonin Investigational, Nutraceutical Phase 1 50-67-9 5202
50
Benzoyl peroxide Approved Not Applicable 94-36-0 7187

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 The Impact of the Routine Aminophylline Administration Following Regadenoson Stress on SPECT Myocardial Perfusion Suspended NCT01655524 Phase 4 ASSUAGE Protocol
2 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
3 Nicotine Vaccination and Nicotinic Receptor Occupancy Completed NCT00996034 Phase 2 Nicotine bitartrate
4 Study of the Effects of Dopaminergic Medications on Dopamine Transporter Imaging in Parkinson's Disease Completed NCT00096720 Phase 2 levodopa;Mirapex (pramipexole)
5 F-18 Fluorothymidine PET Imaging for Early Evaluation of Response to Therapy in Head & Neck Cancer Patients Active, not recruiting NCT00721799 Phase 2 18F-Fluorothymidine PET scan
6 A Randomized Control Trial Treating Depression With Yoga and Coherent Breathing Versus Walking in Veterans Not yet recruiting NCT03489122 Phase 1, Phase 2
7 [11C]Carfentanil PET Study of GSK1521498 Completed NCT00976066 Phase 1 Part A Assessing GSK1521498;Part B Assessing GSK1521498;Part C Assessing Naltrexone
8 This Study Will Evaluate The Relationship Between Plasma Drug Levels And Receptor Binding In Brain Using PET (Positron Emission Tomography) In Healthy Volunteers Completed NCT01258751 Phase 1 PF-05212377
9 To Evaluate The Relationship Between Plasma Drug Levels And Receptor Binding In Brain Using PET (Positron Emission Tomography) In Healthy Volunteers Completed NCT01253655 Phase 1 PF-05212365
10 Study to Evaluate Immunological Response to PD-1 Inhibition in Squamous Cell Carcinoma of the Head and Neck (SCCHN) Recruiting NCT03129061 Phase 1 [18F]F-AraG PET Scan, baseline + post anti-PD-1 therapy.;[18F]F-AraG PET Scan, baseline + post anti-PD-1 therapy.
11 I-Scan Vs High Definition White Light (Main Study) Unknown status NCT02016326 Not Applicable
12 An Investigation Into the Efficacy of Provodine Topical Cream as Compared to 10% Benzoyl Peroxide Wash for the Treatment of Hidradenitis Suppurativa. Unknown status NCT01818167 Not Applicable 10% Benzoyl Peroxide Topical Body Wash;Provodine Topical Cream
13 I-Scan Versus High-definition White Light Completed NCT01617278 Not Applicable
14 Positron Emission Tomography(PET) in Lymphoma Assessment Completed NCT00887718 Not Applicable
15 Assessment of Visual Field-related Endpoints in Patients With Non-arteritic Ischemic Optic Neuropathy Completed NCT01614158
16 Subcuticular Suture Versus Staples for Closure of the Skin After Caesarean Section. Completed NCT01217567 Not Applicable
17 Reproducibility and Repeatability of Multifunctional MRI Biomarkers of the Body Completed NCT02201797 Not Applicable
18 The Neural Basis of Cue-Elicited Cigarette Craving and Its Control Completed NCT01048957 Not Applicable
19 Respiratory Impedance and Obliterative Bronchiolitis Completed NCT01255449 Not Applicable albuterol
20 Hd-bronchoscopy, Comparison to Standard White Light and Autofluorescence Bronchoscopy Completed NCT01676012
21 HD+ I-scan Bronchoscopy Vascular Abnormalities Detection Multicenter Study Completed NCT02285426
22 In Vivo Assessment of Hypoxia in Gastro-intestinal Cancer Using 18F-HX4-PET: an Optimization and Reproducibility Study Completed NCT01995084 Not Applicable [F-18]HX4
23 PET Scanning to Evaluate Zoledronate Efficacy in Metastatic Prostate Cancer Completed NCT01205646 Not Applicable zoledronate therapy
24 Angiogenesis and Fibrosis in Myocardial Infarction Completed NCT01813045
25 Magnetic Resonance Study of Liver in Chemotherapy Completed NCT00578838
26 Effects of Vaccinations With HLA-A2-Restricted Glioma Antigen-Peptides in Combination With Poly-ICLC for Adults With High-Risk WHO Grade II Astrocytomas and Oligo-Astrocytomas Completed NCT00795457 Early Phase 1
27 Safety and Efficacy Evaluation of UltheraTM in Treatment of Baggy Eyelid Completed NCT01693055 Not Applicable
28 Biological Basis of Individual Variation in Social Cooperation Completed NCT01566539 Not Applicable Intranasal Oxytocin (OT) 24 IU;Intranasal Vasopressin (AVP);Intranasal Placebo;Intranasal Vasopressin (AVP) 40 IU;Lorazepam
29 Multimodal Neuroimaging of Stress and Reward Cues to Assess Alcoholism Risk and Relapse Recruiting NCT02616094 Not Applicable
30 Digital vs Conventional Impressions Study Recruiting NCT03146780 Not Applicable
31 Tryptophan Metabolism in Human Brain Tumors Recruiting NCT02367482
32 Interrupted Subdermal Suture Spacing During Linear Wound Closures and the Effect on Wound Cosmesis Recruiting NCT03327922 Not Applicable
33 Interrupted Cutaneous Suture Spacing During Linear Wound Closures and the Effect on Wound Cosmesis Recruiting NCT03330041 Not Applicable
34 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
35 Comparison Between Chromoendoscopy and Virtual Chromoendoscopy (NBI, I-scan, FICE) for Detection of Neoplasia in Long Standing Ulcerative Colitis Recruiting NCT01882205 Not Applicable
36 Improving Pulmonary Function Following Radiation Therapy Recruiting NCT02843568 Not Applicable
37 6-0 Fast Absorbing Gut Versus 5-0 Fast Absorbing Gut for Linear Wound Closure Active, not recruiting NCT03303027 Not Applicable
38 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Active, not recruiting NCT03120013 Not Applicable
39 PET/CT in Evaluating Response to Chemotherapy in Patients With Breast Cancer Suspended NCT01712815 Not Applicable
40 4D Phase Contrast MR: Hypertrophy in Liver Cancer Terminated NCT02618447 Not Applicable
41 Brain Blood Flow Changes Elicited by Oxytocin in Volunteers With and Without Schizophrenia Withdrawn NCT01123317 Not Applicable Oxytocin

Search NIH Clinical Center for Spinocerebellar Ataxia with Axonal Neuropathy Type 2

Genetic Tests for Spinocerebellar Ataxia with Axonal Neuropathy Type 2

Anatomical Context for Spinocerebellar Ataxia with Axonal Neuropathy Type 2

MalaCards organs/tissues related to Spinocerebellar Ataxia with Axonal Neuropathy Type 2:

41
Eye, Brain, Liver, Prostate, Skin, Bone

Publications for Spinocerebellar Ataxia with Axonal Neuropathy Type 2

Articles related to Spinocerebellar Ataxia with Axonal Neuropathy Type 2:

# Title Authors Year
1
A new model to study neurodegeneration in ataxia oculomotor apraxia type 2. ( 26231220 )
2015
2
SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2. ( 22341623 )
2012
3
Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation. ( 19515850 )
2009
4
Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene. ( 19377860 )
2009
5
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. ( 17562789 )
2007

Variations for Spinocerebellar Ataxia with Axonal Neuropathy Type 2

Expression for Spinocerebellar Ataxia with Axonal Neuropathy Type 2

Search GEO for disease gene expression data for Spinocerebellar Ataxia with Axonal Neuropathy Type 2.

Pathways for Spinocerebellar Ataxia with Axonal Neuropathy Type 2

GO Terms for Spinocerebellar Ataxia with Axonal Neuropathy Type 2

Sources for Spinocerebellar Ataxia with Axonal Neuropathy Type 2

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