SCAR1
MCID: SPN429
MIFTS: 58

Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 (SCAR1)

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

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2:

Name: Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 58
Aoa2 58 25 54 60 76
Ataxia with Oculomotor Apraxia Type 2 12 25 54 15
Scar1 54 60 76 56
Spinocerebellar Ataxia with Axonal Neuropathy Type 2 54 60 76
Scan2 58 54 76
Spinocerebellar Ataxia Autosomal Recessive 1 30 6
Ataxia-Oculomotor Apraxia Type 2 54 60
Ataxia-Oculomotor Apraxia 2 58 76
Ataxia-Ocular Apraxia 2 58 76
Scan 2 54 60
Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly; Scar1, Formerly 58
Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly 58
Spinocerebellar Ataxia, Autosomal Recessive, 1 76
Autosomal Recessive Spinocerebellar Ataxia-1 54
Ataxia-Oculomotor Apraxia 2; Aoa2 58
Ataxia-Ocular Apraxia-2 13
Scar1, Formerly 58

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia with axonal neuropathy type 2
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset usually in mid-teens, average 15 years (range 2 to 20 years)
high frequency in the french-canadian population


HPO:

33
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

OMIM : 58 Autosomal recessive spinocerebellar ataxia with axonal neuropathy-2 is a neurodegenerative disorder characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein (AFP; 104150). Oculomotor apraxia is a common but inconsistent finding, found in about 50% of patients; hence this disorder is sometimes referred to as 'ataxia-oculomotor apraxia-2' (AOA2) (Moreira et al., 2004; summary by Ichikawa et al., 2013). Duquette et al. (2005) emphasized that oculomotor apraxia is not a universal finding in this disorder and suggested the name 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy-2' (SCAN2) to distinguish it from SCAN1 (607250). For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (208920). For a discussion of genetic heterogeneity of SCAN, see SCAN1 (607250). (606002)

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2, also known as aoa2, is related to ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and apraxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 is SETX (Senataxin), and among its related pathways/superpathways are TCR Signaling (Qiagen) and DNA Damage. The drugs Regadenoson and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and spinal cord, and related phenotypes are conjunctival telangiectasia and dysphagia

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy and elevated alpha-fetoprotein, has material basis in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 Spinocerebellar ataxia, autosomal recessive, 1: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR1 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha-fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAR1 patients manifest oculomotor apraxia.

GeneReviews: NBK1154

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Diseases in the Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 family:

Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3
Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 31.9 APTX SACS SETX TTPA
2 apraxia 30.2 APTX ATM PIK3R5 SETX
3 autosomal dominant cerebellar ataxia 30.0 ATXN1 CACNA1A FXN SPTBN2
4 ataxia-telangiectasia 29.7 APTX ATM H2AFX
5 ataxia and polyneuropathy, adult-onset 10.3
6 axonal neuropathy 10.2
7 neuropathy 10.2
8 tremor 10.2
9 neuropathy, hereditary sensory and autonomic, type iia 10.2 KIF1A SACS SETX
10 wiskott-aldrich syndrome 10.2
11 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 10.2
12 spinocerebellar ataxia 18 10.2 CACNA1A SPTBN2
13 ocular motor apraxia 10.1 APTX ATM
14 spinocerebellar ataxia 31 10.1 CACNA1A SACS SETX
15 oculomotor nerve paralysis 10.1 AFP CAMP
16 telangiectasis 10.0
17 infertility 10.0
18 myoclonus 10.0
19 third cranial nerve disease 10.0 AFP CAMP
20 spastic ataxia, charlevoix-saguenay type 10.0 APTX FXN SACS SETX TTPA
21 primary cerebellar degeneration 10.0 ATXN1 CACNA1A
22 sarcocystosis 9.9 FARSA SACS
23 autosomal recessive disease 9.9 ATM FXN TTPA
24 vitamin e, familial isolated deficiency of 9.9 AFP APTX FXN SACS SETX TTPA
25 autosomal recessive cerebellar ataxia 9.7 AFP ATM FXN SETX SPTBN2
26 friedreich ataxia 1 9.7 APTX ATXN1 CACNA1A FXN SETX TTPA
27 autosomal genetic disease 9.7 ATM ATXN1 CACNA1A FXN
28 xeroderma pigmentosum, variant type 9.6 ATM H2AFX RAD51
29 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 9.5 APTX CACNA1A ITPR1 KIF11 KIF1A SETX
30 hereditary ataxia 9.3 APTX ATM ATXN1 CACNA1A FXN SETX
31 cerebellar disease 9.3 APTX ATM CACNA1A ITPR1 SACS SETX
32 aceruloplasminemia 8.9 APTX ATM ATXN1 CACNA1A FXN ITPR1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2:



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2:

33 60 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 conjunctival telangiectasia 33 occasional (7.5%) HP:0000524
2 dysphagia 60 33 very rare (1%) Occasional (29-5%) HP:0002015
3 strabismus 60 33 very rare (1%) Occasional (29-5%) HP:0000486
4 dystonia 60 33 very rare (1%) Occasional (29-5%) HP:0001332
5 areflexia 60 33 very rare (1%) Very frequent (99-80%) HP:0001284
6 elevated alpha-fetoprotein 60 33 very rare (1%) Frequent (79-30%) HP:0006254
7 oculomotor apraxia 60 33 very rare (1%) Frequent (79-30%) HP:0000657
8 head tremor 60 33 very rare (1%) Occasional (29-5%) HP:0002346
9 nystagmus 33 very rare (1%) HP:0000639
10 dysarthria 33 very rare (1%) HP:0001260
11 tremor 33 very rare (1%) HP:0001337
12 chorea 33 very rare (1%) HP:0002072
13 scoliosis 33 very rare (1%) HP:0002650
14 gait ataxia 33 very rare (1%) HP:0002066
15 impaired proprioception 33 very rare (1%) HP:0010831
16 pes cavus 33 very rare (1%) HP:0001761
17 hyporeflexia 33 very rare (1%) HP:0001265
18 cerebellar atrophy 33 very rare (1%) HP:0001272
19 peripheral axonal neuropathy 33 very rare (1%) HP:0003477
20 distal muscle weakness 33 very rare (1%) HP:0002460
21 distal amyotrophy 33 very rare (1%) HP:0003693
22 impaired distal tactile sensation 33 very rare (1%) HP:0006937
23 abnormal pyramidal sign 60 33 Occasional (29-5%) HP:0007256
24 saccadic smooth pursuit 60 33 Frequent (79-30%) HP:0001152
25 gaze-evoked nystagmus 60 33 Frequent (79-30%) HP:0000640
26 ataxia 60 Very frequent (99-80%)
27 elevated serum creatine phosphokinase 60 Occasional (29-5%)
28 limb ataxia 33 HP:0002070
29 gait imbalance 60 Frequent (79-30%)
30 babinski sign 60 Occasional (29-5%)
31 urinary bladder sphincter dysfunction 60 Occasional (29-5%)
32 decreased motor nerve conduction velocity 33 HP:0003431
33 hypercholesterolemia 60 Occasional (29-5%)
34 choreoathetosis 60 Occasional (29-5%)
35 postural tremor 60 Occasional (29-5%)
36 progressive gait ataxia 33 HP:0007240
37 cerebellar vermis atrophy 60 Very frequent (99-80%)
38 pontocerebellar atrophy 33 HP:0006879
39 polyneuropathy 33 HP:0001271
40 sensorimotor neuropathy 60 Very frequent (99-80%)
41 increased antibody level in blood 33 HP:0010702
42 sensory impairment 60 Frequent (79-30%)
43 hypoalbuminemia 60 Occasional (29-5%)
44 chronic axonal neuropathy 33 HP:0007267
45 impaired distal vibration sensation 33 HP:0006886
46 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
pontocerebellar atrophy
spinocerebellar ataxia
gait ataxia, progressive
limb ataxia, progressive
more
Neurologic Peripheral Nervous System:
areflexia
decreased motor nerve conduction velocity (ncv)
sural nerve biopsy shows chronic axonal neuropathy
polyneuropathy (98% of patients)
decreased distal vibration sense
more
Muscle Soft Tissue:
distal muscle weakness
distal amyotrophy

Skeletal Spine:
scoliosis (22% of patients)

Abdomen Gastrointestinal:
dysphagia

Head And Neck Eyes:
saccadic smooth pursuit
gaze-evoked nystagmus
strabismus (13 to 30% of patients)
oculomotor apraxia (56% of patients)
conjunctival telangiectasia (reported in 1 family)

Skeletal Feet:
pes cavus (less common)

Laboratory Abnormalities:
increased serum alpha-fetoprotein
increased serum gamma-globulin
increased serum creatine kinase (less common)

Clinical features from OMIM:

606002

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 according to GeneCards Suite gene sharing:

27 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.68 FGF8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.68 SACS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.68 SACS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.68 SACS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.68 FGF8
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.68 SACS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.68 FGF8
8 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.68 SACS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.68 SACS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.68 FGF8
11 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.68 FGF8
12 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.68 SACS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.68 FGF8 FXN SACS TTPA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.68 FGF8
15 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.68 FGF8 SACS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.68 TTPA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.68 FGF8 FXN
18 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.68 SACS

MGI Mouse Phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 AFP ATM ATXN1 CACNA1A FGF8 FXN
2 cellular MP:0005384 10.06 APTX ATM CACNA1A CAMP FGF8 FXN
3 growth/size/body region MP:0005378 10.03 ATM ATXN1 CACNA1A FARSA FGF8 FXN
4 homeostasis/metabolism MP:0005376 9.93 AFP APTX ATM ATXN1 CACNA1A FARSA
5 mortality/aging MP:0010768 9.77 AFP ATM ATXN1 CACNA1A CAMP FARSA
6 reproductive system MP:0005389 9.28 AFP ATM CACNA1A FGF8 H2AFX ITPR1

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

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

(show top 50) (show all 111)
# 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 Phosphodiesterase Inhibitors Phase 4
5 Protective Agents Phase 4,Phase 2,Not Applicable
6 Respiratory System Agents Phase 4,Not Applicable
7 Purinergic P1 Receptor Antagonists Phase 4
8 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable
9 Bronchodilator Agents Phase 4,Not Applicable
10 Neurotransmitter Agents Phase 4,Phase 2,Phase 1,Not Applicable
11 Cardiotonic Agents Phase 4
12 Anti-Asthmatic Agents Phase 4,Not Applicable
13 Autonomic Agents Phase 4,Phase 2,Not Applicable
14
Nicotine Approved Phase 2,Not Applicable 54-11-5 89594 942
15
Dopamine Approved Phase 2,Phase 1 62-31-7, 51-61-6 681
16
Levodopa Approved Phase 2 59-92-7 6047
17
Pramipexole Approved, Investigational Phase 2 104632-26-0 119570 59868
18
Cocaine Approved, Illicit Phase 1, Phase 2 50-36-2 446220 5760
19
Mirtazapine Approved Phase 1, Phase 2 85650-52-8, 61337-67-5 4205
20
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6 774
21
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
22 Vaccines Phase 2,Early Phase 1
23 Cholinergic Agents Phase 2,Not Applicable
24 Immunologic Factors Phase 2,Early Phase 1
25 Nicotinic Agonists Phase 2,Not Applicable
26 Central Nervous System Stimulants Phase 2
27 Antiparkinson Agents Phase 2
28 Dopamine agonists Phase 2
29 Antioxidants Phase 2
30 Dopamine Agents Phase 2,Phase 1
31 Serotonin Agents Phase 1, Phase 2
32 Histamine Antagonists Phase 1, Phase 2
33 Central Nervous System Depressants Phase 1, Phase 2,Not Applicable
34 Anti-Anxiety Agents Phase 1, Phase 2,Not Applicable
35 Serotonin Antagonists Phase 1, Phase 2
36 Adrenergic Agents Phase 1, Phase 2,Not Applicable
37 Neurotransmitter Uptake Inhibitors Phase 1, Phase 2
38 Psychotropic Drugs Phase 1, Phase 2,Not Applicable
39 Vasoconstrictor Agents Phase 1, Phase 2,Not Applicable
40 Anesthetics Phase 1, Phase 2
41 Tranquilizing Agents Phase 1, Phase 2,Not Applicable
42 Anesthetics, Local Phase 1, Phase 2
43 Antidepressive Agents Phase 1, Phase 2
44 Adrenergic alpha-Antagonists Phase 1, Phase 2
45 Histamine H1 Antagonists Phase 1, Phase 2
46 Serotonin 5-HT2 Receptor Antagonists Phase 1, Phase 2
47 Serotonin 5-HT3 Receptor Antagonists Phase 1, Phase 2
48 Adrenergic Antagonists Phase 1, Phase 2
49
Histamine Phosphate Phase 1, Phase 2 51-74-1 65513
50 Dopamine Uptake Inhibitors Phase 1, Phase 2

Interventional clinical trials:

(show all 37)
# 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 Integrated Dual Exercise and Lexiscan Positron Emission Tomography: IDEALPET Completed NCT01109992 Phase 4 Exercise plus Regadenoson (Lexercise);Regadenoson (Lexiscan)
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 5HT2CR Balance in Brain Connectivity in Cocaine Dependence Recruiting NCT03921151 Phase 1, Phase 2 Mirtazapine 15 MG (administered at Scan 1) and Placebo oral capsule (administered at Scan 2);Placebo oral capsule (administered at Scan 1) and Mirtazapine 15 MG (administered at Scan 2)
6 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
7 A Randomized Control Trial Treating Depression With Yoga and Coherent Breathing Versus Walking in Veterans Recruiting NCT03489122 Phase 1, Phase 2
8 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.
9 [11C]Carfentanil PET Study of GSK1521498 Completed NCT00976066 Phase 1 Part A Assessing GSK1521498;Part B Assessing GSK1521498;Part C Assessing Naltrexone
10 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
11 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
12 I-Scan Vs High Definition White Light (Main Study) Unknown status NCT02016326 Not Applicable
13 I-Scan Versus High-definition White Light Completed NCT01617278 Not Applicable
14 Brain Blood Flow Changes Elicited by Oxytocin in Volunteers With and Without Schizophrenia Withdrawn NCT01123317 Not Applicable Oxytocin
15 Multimodal Neuroimaging of Stress and Reward Cues to Assess Alcoholism Risk and Relapse Recruiting NCT02616094 Not Applicable
16 Positron Emission Tomography(PET) in Lymphoma Assessment Completed NCT00887718 Not Applicable
17 Assessment of Visual Field-related Endpoints in Patients With Non-arteritic Ischemic Optic Neuropathy Completed NCT01614158
18 Reproducibility and Repeatability of Multifunctional MRI Biomarkers of the Body Completed NCT02201797 Not Applicable
19 4D Phase Contrast MR: Hypertrophy in Liver Cancer Terminated NCT02618447 Not Applicable
20 The Neural Basis of Cue-Elicited Cigarette Craving and Its Control Completed NCT01048957 Not Applicable
21 Impact of Varenicline on Blood-Oxygen-Level Dependent (BOLD) Functional Magnetic Resonance Imaging (fMRI) Activation on Smokers Completed NCT00934024 Not Applicable varenicline
22 PET/CT in Evaluating Response to Chemotherapy in Patients With Breast Cancer Suspended NCT01712815 Not Applicable
23 Respiratory Impedance and Obliterative Bronchiolitis Completed NCT01255449 Not Applicable albuterol
24 Digital vs Conventional Impressions Study Recruiting NCT03146780 Not Applicable
25 Tryptophan Metabolism in Human Brain Tumors Recruiting NCT02367482
26 Hd-bronchoscopy, Comparison to Standard White Light and Autofluorescence Bronchoscopy Completed NCT01676012
27 HD+ I-scan Bronchoscopy Vascular Abnormalities Detection Multicenter Study Completed NCT02285426
28 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
29 PET Scanning to Evaluate Zoledronate Efficacy in Metastatic Prostate Cancer Completed NCT01205646 Not Applicable zoledronate therapy
30 Angiogenesis and Fibrosis in Myocardial Infarction Completed NCT01813045
31 Magnetic Resonance Study of Liver in Chemotherapy Completed NCT00578838
32 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
33 Safety and Efficacy Evaluation of UltheraTM in Treatment of Baggy Eyelid Completed NCT01693055 Not Applicable
34 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
35 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
36 Comparison Between Chromoendoscopy and Virtual Chromoendoscopy (NBI, I-scan, FICE) for Detection of Neoplasia in Long Standing Ulcerative Colitis Recruiting NCT01882205 Not Applicable
37 Improving Pulmonary Function Following Radiation Therapy Recruiting NCT02843568 Not Applicable

Search NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Autosomal Recessive 1 30 SETX

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2:

42
Eye, Brain, Spinal Cord, Cerebellum, Liver, Bone, Prostate

Publications for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Articles related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2:

(show all 45)
# Title Authors Year
1
Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2). ( 30778901 )
2019
2
A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2. ( 30198223 )
2018
3
Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. ( 29212862 )
2018
4
Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein. ( 29127364 )
2017
5
An AOA2 patient with a novel compound heterozygous SETX frame shift mutations. ( 28017231 )
2017
6
Altered translational repression of an RNA-binding protein, Elav by AOA2-causative Senataxin mutation. ( 28245518 )
2017
7
Ataxia with oculomotor apraxia type 2 in the Canadian aboriginal population. ( 26332941 )
2016
8
A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2. ( 26811093 )
2016
9
Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2. ( 25462094 )
2015
10
Ataxia with oculomotor apraxia type 2: not always an easy diagnosis. ( 25787807 )
2015
11
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2. ( 25927548 )
2015
12
Pseudodominant AOA2. ( 26331048 )
2015
13
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. ( 24760770 )
2014
14
Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage. ( 24814856 )
2014
15
The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2. ( 30363866 )
2014
16
Holmes-Like Tremor in Ataxia With Oculomotor Apraxia Type 2. ( 30713863 )
2014
17
R-loops in proliferating cells but not in the brain: implications for AOA2 and other autosomal recessive ataxias. ( 24637776 )
2014
18
SETX sumoylation: A link between DNA damage and RNA surveillance disrupted in AOA2. ( 25054092 )
2014
19
Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2. ( 23475383 )
2013
20
Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival. ( 24090759 )
2013
21
A new SETX mutation producing AOA2 in two siblings. ( 23566282 )
2013
22
A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage. ( 24105744 )
2013
23
MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus. ( 24179805 )
2013
24
Cognitive functions in ataxia with oculomotor apraxia type 2. ( 23015802 )
2012
25
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families. ( 23111195 )
2012
26
(1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2. ( 20713024 )
2010
27
Sensory neuronopathy in ataxia with oculomotor apraxia type 2. ( 20869730 )
2010
28
Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin. ( 19593598 )
2010
29
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ( 20050888 )
2010
30
Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. ( 19141356 )
2009
31
Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2. ( 19618424 )
2009
32
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. ( 19696032 )
2009
33
Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2. ( 19727998 )
2009
34
A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2). ( 19893583 )
2009
35
"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2). ( 18350359 )
2008
36
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. ( 18625865 )
2008
37
Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2). ( 18663494 )
2008
38
Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein. ( 19569000 )
2008
39
Ovarian failure in ataxia with oculomotor apraxia type 2. ( 17593543 )
2007
40
In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. ( 17096168 )
2007
41
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. ( 16636238 )
2006
42
Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2. ( 17159128 )
2006
43
Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. ( 16717225 )
2006
44
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. ( 15732101 )
2005
45
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. ( 14770181 )
2004

Variations for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2:

76 (show all 15)
# Symbol AA change Variation ID SNP ID
1 SETX p.Trp305Cys VAR_018777
2 SETX p.Arg332Trp VAR_018778 rs29001665
3 SETX p.Pro413Leu VAR_018780
4 SETX p.Phe1756Ser VAR_018788 rs762175796
5 SETX p.Pro2213Leu VAR_018791 rs28940290
6 SETX p.Met274Ile VAR_036646 rs997473183
7 SETX p.Asn603Asp VAR_036647 rs116205032
8 SETX p.Gln653Lys VAR_036648 rs116333061
9 SETX p.Arg1294Cys VAR_036649 rs267607044
10 SETX p.Pro2368Arg VAR_036650 rs142083343
11 SETX p.Ile331Lys VAR_071682
12 SETX p.Pro496Leu VAR_071683
13 SETX p.Met2229Thr VAR_071687 rs147182433
14 SETX p.Met274Val VAR_072587 rs753713810
15 SETX p.Leu1976Arg VAR_072588 rs121434379

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2:

6 (show top 50) (show all 328)
# Gene Variation Type Significance SNP ID Assembly Location
1 SETX NM_015046.5(SETX): c.4087C> T (p.Arg1363Ter) single nucleotide variant Pathogenic rs121434376 GRCh37 Chromosome 9, 135202898: 135202898
2 SETX NM_015046.5(SETX): c.4087C> T (p.Arg1363Ter) single nucleotide variant Pathogenic rs121434376 GRCh38 Chromosome 9, 132327511: 132327511
3 SETX NM_015046.5(SETX): c.2602C> T (p.Gln868Ter) single nucleotide variant Pathogenic rs121434377 GRCh37 Chromosome 9, 135204383: 135204383
4 SETX NM_015046.5(SETX): c.2602C> T (p.Gln868Ter) single nucleotide variant Pathogenic rs121434377 GRCh38 Chromosome 9, 132328996: 132328996
5 SETX NM_015046.5(SETX): c.6638C> T (p.Pro2213Leu) single nucleotide variant Pathogenic rs28940290 GRCh37 Chromosome 9, 135156870: 135156870
6 SETX NM_015046.5(SETX): c.6638C> T (p.Pro2213Leu) single nucleotide variant Pathogenic rs28940290 GRCh38 Chromosome 9, 132281483: 132281483
7 SETX NM_015046.5(SETX): c.2967_2971delGAAAG (p.Arg989Serfs) deletion Pathogenic rs587776536 GRCh37 Chromosome 9, 135204014: 135204018
8 SETX NM_015046.5(SETX): c.2967_2971delGAAAG (p.Arg989Serfs) deletion Pathogenic rs587776536 GRCh38 Chromosome 9, 132328627: 132328631
9 SETX NM_015046.5(SETX): c.994C> T (p.Arg332Trp) single nucleotide variant Pathogenic rs29001665 GRCh37 Chromosome 9, 135206680: 135206680
10 SETX NM_015046.5(SETX): c.994C> T (p.Arg332Trp) single nucleotide variant Pathogenic rs29001665 GRCh38 Chromosome 9, 132331293: 132331293
11 SETX NM_015046.5(SETX): c.1166T> C (p.Leu389Ser) single nucleotide variant Pathogenic rs29001584 GRCh37 Chromosome 9, 135205819: 135205819
12 SETX NM_015046.5(SETX): c.1166T> C (p.Leu389Ser) single nucleotide variant Pathogenic rs29001584 GRCh38 Chromosome 9, 132330432: 132330432
13 SETX NM_015046.5(SETX): c.5927T> G (p.Leu1976Arg) single nucleotide variant Pathogenic rs121434379 GRCh37 Chromosome 9, 135172296: 135172296
14 SETX NM_015046.5(SETX): c.5927T> G (p.Leu1976Arg) single nucleotide variant Pathogenic rs121434379 GRCh38 Chromosome 9, 132296909: 132296909
15 SETX NM_015046.5(SETX): c.1807A> G (p.Asn603Asp) single nucleotide variant Uncertain significance rs116205032 GRCh37 Chromosome 9, 135205178: 135205178
16 SETX NM_015046.5(SETX): c.1807A> G (p.Asn603Asp) single nucleotide variant Uncertain significance rs116205032 GRCh38 Chromosome 9, 132329791: 132329791
17 SETX NM_015046.5(SETX): c.822G> H single nucleotide variant no interpretation for the single variant rs997473183 GRCh37 Chromosome 9, 135210011: 135210011
18 SETX NM_015046.5(SETX): c.822G> H single nucleotide variant no interpretation for the single variant rs997473183 GRCh38 Chromosome 9, 132334624: 132334624
19 SETX NM_015046.5(SETX): c.5929C> T (p.Leu1977Phe) single nucleotide variant Pathogenic rs121434380 GRCh37 Chromosome 9, 135172294: 135172294
20 SETX NM_015046.5(SETX): c.5929C> T (p.Leu1977Phe) single nucleotide variant Pathogenic rs121434380 GRCh38 Chromosome 9, 132296907: 132296907
21 SETX NM_015046.5(SETX): c.1027G> T (p.Glu343Ter) single nucleotide variant Pathogenic rs121434381 GRCh37 Chromosome 9, 135206510: 135206510
22 SETX NM_015046.5(SETX): c.1027G> T (p.Glu343Ter) single nucleotide variant Pathogenic rs121434381 GRCh38 Chromosome 9, 132331123: 132331123
23 SETX NM_015046.5(SETX): c.343_345delCTT (p.Leu115del) deletion Likely pathogenic rs587776537 GRCh37 Chromosome 9, 135221691: 135221693
24 SETX NM_015046.5(SETX): c.343_345delCTT (p.Leu115del) deletion Likely pathogenic rs587776537 GRCh38 Chromosome 9, 132346304: 132346306
25 SETX NM_015046.5(SETX): c.1957C> A (p.Gln653Lys) single nucleotide variant Benign rs116333061 GRCh37 Chromosome 9, 135205028: 135205028
26 SETX NM_015046.5(SETX): c.1957C> A (p.Gln653Lys) single nucleotide variant Benign rs116333061 GRCh38 Chromosome 9, 132329641: 132329641
27 SETX NM_015046.5(SETX): c.3880C> T (p.Arg1294Cys) single nucleotide variant no interpretation for the single variant rs267607044 GRCh37 Chromosome 9, 135203105: 135203105
28 SETX NM_015046.5(SETX): c.3880C> T (p.Arg1294Cys) single nucleotide variant no interpretation for the single variant rs267607044 GRCh38 Chromosome 9, 132327718: 132327718
29 SETX NM_015046.5(SETX): c.3455T> G (p.Phe1152Cys) single nucleotide variant Benign/Likely benign rs3739922 GRCh37 Chromosome 9, 135203530: 135203530
30 SETX NM_015046.5(SETX): c.3455T> G (p.Phe1152Cys) single nucleotide variant Benign/Likely benign rs3739922 GRCh38 Chromosome 9, 132328143: 132328143
31 SETX NM_015046.5(SETX): c.6848_6851delCAGA (p.Thr2283Lysfs) deletion Pathogenic rs398124286 GRCh37 Chromosome 9, 135152531: 135152534
32 SETX NM_015046.5(SETX): c.6848_6851delCAGA (p.Thr2283Lysfs) deletion Pathogenic rs398124286 GRCh38 Chromosome 9, 132277144: 132277147
33 SETX NM_015046.5(SETX): c.7640T> C (p.Ile2547Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs151117904 GRCh37 Chromosome 9, 135140020: 135140020
34 SETX NM_015046.5(SETX): c.7640T> C (p.Ile2547Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs151117904 GRCh38 Chromosome 9, 132264633: 132264633
35 SETX NM_015046.5(SETX): c.59G> A (p.Arg20His) single nucleotide variant Benign/Likely benign rs79740039 GRCh38 Chromosome 9, 132349370: 132349370
36 SETX NM_015046.5(SETX): c.59G> A (p.Arg20His) single nucleotide variant Benign/Likely benign rs79740039 GRCh37 Chromosome 9, 135224757: 135224757
37 SETX NM_015046.5(SETX): c.3809C> T (p.Pro1270Leu) single nucleotide variant Likely benign rs144334281 GRCh38 Chromosome 9, 132327789: 132327789
38 SETX NM_015046.5(SETX): c.3809C> T (p.Pro1270Leu) single nucleotide variant Likely benign rs144334281 GRCh37 Chromosome 9, 135203176: 135203176
39 SETX NM_015046.5(SETX): c.6038T> G (p.Val2013Gly) single nucleotide variant Likely pathogenic rs797045068 GRCh37 Chromosome 9, 135171327: 135171327
40 SETX NM_015046.5(SETX): c.6038T> G (p.Val2013Gly) single nucleotide variant Likely pathogenic rs797045068 GRCh38 Chromosome 9, 132295940: 132295940
41 SETX NM_015046.6(SETX): c.5821_5830del (p.Ala1941Leufs) deletion Pathogenic rs797045067 GRCh37 Chromosome 9, 135172393: 135172402
42 SETX NM_015046.6(SETX): c.5821_5830del (p.Ala1941Leufs) deletion Pathogenic rs797045067 GRCh38 Chromosome 9, 132297006: 132297015
43 SETX NM_015046.5(SETX): c.6322C> T (p.Gln2108Ter) single nucleotide variant Pathogenic rs879253866 GRCh37 Chromosome 9, 135163625: 135163625
44 SETX NM_015046.5(SETX): c.6322C> T (p.Gln2108Ter) single nucleotide variant Pathogenic rs879253866 GRCh38 Chromosome 9, 132288238: 132288238
45 SETX NM_015046.5(SETX): c.7114G> A (p.Asp2372Asn) single nucleotide variant Benign/Likely benign rs150673589 GRCh38 Chromosome 9, 132271795: 132271795
46 SETX NM_015046.5(SETX): c.7114G> A (p.Asp2372Asn) single nucleotide variant Benign/Likely benign rs150673589 GRCh37 Chromosome 9, 135147182: 135147182
47 SETX NM_015046.5(SETX): c.6507G> A (p.Gly2169=) single nucleotide variant Benign/Likely benign rs34073320 GRCh37 Chromosome 9, 135158690: 135158690
48 SETX NM_015046.5(SETX): c.6507G> A (p.Gly2169=) single nucleotide variant Benign/Likely benign rs34073320 GRCh38 Chromosome 9, 132283303: 132283303
49 SETX NM_015046.5(SETX): c.4755T> G (p.Pro1585=) single nucleotide variant Benign/Likely benign rs151237267 GRCh37 Chromosome 9, 135202230: 135202230
50 SETX NM_015046.5(SETX): c.4755T> G (p.Pro1585=) single nucleotide variant Benign/Likely benign rs151237267 GRCh38 Chromosome 9, 132326843: 132326843

Expression for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 ATM CACNA1A H2AFX ITPR1 PIK3R5 RAD51
2 11.82 APTX ATM H2AFX KIF11 RAD51
3
Show member pathways
11.61 CACNA1A ITPR1 PIK3R5
4
Show member pathways
11.37 ATM H2AFX RAD51
5 10.7 ATM CACNA1A H2AFX ITPR1 PIK3R5 RAD51

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.53 AFP APTX ATM ATXN1 CACNA1A FARSA
2 presynapse GO:0098793 9.43 CACNA1A KIF1A SPTBN2
3 chromatin GO:0000785 9.33 APTX H2AFX RAD51
4 chromosome, telomeric region GO:0000781 9.13 ATM H2AFX SETX

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.55 APTX ATM H2AFX RAD51 SETX
2 DNA recombination GO:0006310 9.43 H2AFX RAD51 SETX
3 embryo development ending in birth or egg hatching GO:0009792 9.32 FGF8 FXN
4 double-strand break repair GO:0006302 9.13 APTX H2AFX SETX
5 DNA repair GO:0006281 9.02 APTX ATM H2AFX RAD51 SETX

Sources for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....