SCAN2
MCID: SPN429
MIFTS: 57

Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 (SCAN2)

Categories: Eye diseases, Genetic diseases, Muscle 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 57 72 29 6
Aoa2 57 25 20 58 72
Ataxia with Oculomotor Apraxia Type 2 12 25 20 15
Scar1 20 58 72 54
Scan2 57 20 72
Spinocerebellar Ataxia with Axonal Neuropathy Type 2 20 58
Ataxia-Oculomotor Apraxia Type 2 20 58
Ataxia-Oculomotor Apraxia 2 57 72
Ataxia-Ocular Apraxia 2 57 72
Scan 2 20 58
Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly; Scar1, Formerly 57
Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly 57
Spinocerebellar Ataxia, Autosomal Recessive, 1 72
Spinocerebellar Ataxia, Autosomal Recessive 1 70
Autosomal Recessive Spinocerebellar Ataxia-1 20
Ataxia-Oculomotor Apraxia 2; Aoa2 57
Ataxia-Ocular Apraxia-2 13
Scar1, Formerly 57

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia with axonal neuropathy type 2
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
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:

31
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


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

OMIM® : 57 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) (Updated 20-May-2021)

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 oculomotor apraxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 is SETX (Senataxin), and among its related pathways/superpathways are fMLP Pathway and Development Slit-Robo signaling. The drugs Ethanol and Naltrexone have been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are ataxia and areflexia

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.

GARD : 20 Ataxia with oculomotor apraxia type 2 (AOA2) 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. AOA2 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 : 72 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2: A form of spinocerebellar ataxia, 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. SCAN2 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha-fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAN2 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 top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 31.5 SETX FXN CACNA1A APTX
2 oculomotor apraxia 30.6 SETX PIK3R5 APTX
3 ataxia with vitamin 3 deficiency 30.6 SETX FXN APTX
4 apraxia 30.4 SETX PIK3R5 APTX AFP
5 choreatic disease 30.3 SETX FXN CACNA1A APTX
6 spinocerebellar ataxia type 1 with axonal neuropathy 30.2 SETX APTX
7 amyotrophic lateral sclerosis 4, juvenile 29.9 XRN2 SETX RNASEH1 EXOSC9
8 friedreich ataxia 29.7 SETX FXN CACNA1A APTX
9 autosomal recessive cerebellar ataxia 29.6 U2AF1 SETX FXN CACNA1A APTX ANO10
10 autosomal dominant cerebellar ataxia 28.9 SETX SACS PRKCG FXN CACNA1A APTX
11 autosomal recessive disease 10.5
12 axonal neuropathy 10.5
13 tremor 10.5
14 polyneuropathy 10.4
15 dystonia 10.4
16 paratesticular lipoma 10.3 AFP ACTA1
17 ataxia-oculomotor apraxia 3 10.3 SETX PIK3R5 APTX
18 lipoma of spermatic cord 10.3 AFP ACTA1
19 spinocerebellar ataxia, autosomal recessive 3 10.3 WASL WASF1 WAS
20 ataxia-oculomotor apraxia 4 10.2
21 chorea, childhood-onset, with psychomotor retardation 10.2
22 cervical dystonia 10.2
23 ataxia with vitamin e deficiency 10.2
24 cerebellar ataxia with peripheral neuropathy 10.2
25 vestibular nystagmus 10.2 CACNA1A APTX
26 spastic paraplegia 7, autosomal recessive 10.2 SETX APTX ANO10
27 male infertility 10.2
28 hypogonadism 10.2
29 x-linked recessive disease 10.2 WASL WAS U2AF1
30 x-linked monogenic disease 10.2 WASL WAS U2AF1
31 ocular motor apraxia 10.1
32 ataxia-telangiectasia 10.1
33 ataxia and polyneuropathy, adult-onset 10.1
34 telangiectasis 10.1
35 wiskott-aldrich syndrome 10.1
36 pontocerebellar hypoplasia, type 1b 10.1 U2AF1 EXOSC9
37 x-linked nephrolithiasis type i 10.1 XRN2 EXOSC9
38 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.1 FXN CACNA1A APTX
39 spinocerebellar ataxia, autosomal recessive 14 10.1 SACS CACNA1A
40 amyotrophic lateral sclerosis 1 10.1
41 lateral sclerosis 10.1
42 spinocerebellar ataxia, autosomal recessive 8 10.1 SETX SACS CACNA1A
43 spinocerebellar ataxia 10 10.0 FXN CACNA1A ANO10
44 spastic ataxia, charlevoix-saguenay type 10.0 SETX SACS FXN APTX
45 pontocerebellar hypoplasia, type 7 10.0 CACNA1A APTX
46 peripheral nervous system disease 10.0
47 neuropathy 10.0
48 aceruloplasminemia 10.0 SETX FXN CACNA1A
49 spinocerebellar ataxia 14 10.0 PRKCG CACNA1A APTX
50 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 9.9

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:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 areflexia 58 31 very rare (1%) Very frequent (99-80%) HP:0001284
3 cerebellar vermis atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0006855
4 sensorimotor neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007141
5 gait imbalance 58 31 frequent (33%) Frequent (79-30%) HP:0002141
6 elevated alpha-fetoprotein 58 31 very rare (1%) Frequent (79-30%) HP:0006254
7 oculomotor apraxia 58 31 very rare (1%) Frequent (79-30%) HP:0000657
8 sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0003474
9 saccadic smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0001152
10 gaze-evoked nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000640
11 dysphagia 58 31 very rare (1%) Occasional (29-5%) HP:0002015
12 strabismus 58 31 very rare (1%) Occasional (29-5%) HP:0000486
13 elevated serum creatine kinase 58 31 occasional (7.5%) Occasional (29-5%) HP:0003236
14 hypercholesterolemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003124
15 dystonia 58 31 very rare (1%) Occasional (29-5%) HP:0001332
16 hypoalbuminemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003073
17 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
18 head tremor 58 31 very rare (1%) Occasional (29-5%) HP:0002346
19 choreoathetosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001266
20 urinary bladder sphincter dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0002839
21 postural tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002174
22 conjunctival telangiectasia 31 occasional (7.5%) HP:0000524
23 scoliosis 31 very rare (1%) HP:0002650
24 nystagmus 31 very rare (1%) HP:0000639
25 dysarthria 31 very rare (1%) HP:0001260
26 tremor 31 very rare (1%) HP:0001337
27 chorea 31 very rare (1%) HP:0002072
28 pes cavus 31 very rare (1%) HP:0001761
29 hyporeflexia 31 very rare (1%) HP:0001265
30 gait ataxia 31 very rare (1%) HP:0002066
31 impaired proprioception 31 very rare (1%) HP:0010831
32 cerebellar atrophy 31 very rare (1%) HP:0001272
33 distal muscle weakness 31 very rare (1%) HP:0002460
34 distal amyotrophy 31 very rare (1%) HP:0003693
35 peripheral axonal neuropathy 31 very rare (1%) HP:0003477
36 impaired distal tactile sensation 31 very rare (1%) HP:0006937
37 abnormal pyramidal sign 58 31 Occasional (29-5%) HP:0007256
38 decreased motor nerve conduction velocity 31 HP:0003431
39 polyneuropathy 31 HP:0001271
40 progressive gait ataxia 31 HP:0007240
41 limb ataxia 31 HP:0002070
42 pontocerebellar atrophy 31 HP:0006879
43 impaired distal vibration sensation 31 HP:0006886
44 chronic axonal neuropathy 31 HP:0007267
45 increased circulating antibody level 31 HP:0010702

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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
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 Spine:
scoliosis (22% of patients)

Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
distal muscle weakness
distal amyotrophy

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 (Updated 20-May-2021)

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

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.78 PIK3R5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.78 XRN2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.78 U2AF1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.78 EXOSC9
5 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.78 U2AF1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.78 PIK3R5
7 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.78 FXN
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.78 PIK3R5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.78 XRN2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.78 U2AF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.78 PIK3R5
12 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.78 FXN XRN2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.78 EXOSC9
14 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.78 FXN
15 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.78 FXN
16 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.78 EXOSC9
17 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.78 U2AF1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.78 FXN
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.78 FXN PIK3R5 U2AF1 XRN2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.78 U2AF1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.78 EXOSC9
22 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.78 U2AF1 XRN2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.78 XRN2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.78 EXOSC9

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 all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 1 64-17-5 702
2
Naltrexone Approved, Investigational, Vet_approved Phase 1 16590-41-3 5360515
3
Cisplatin Approved Phase 1 15663-27-1 84093 441203 2767
4
Gemcitabine Approved Phase 1 95058-81-4 60750
5
Carboplatin Approved Phase 1 41575-94-4 10339178 498142 38904
6
Pertuzumab Approved Phase 1 380610-27-5, 145040-37-5 2540
7
Carfentanil Illicit, Investigational, Vet_approved Phase 1 59708-52-0
8 Narcotics Phase 1
9 Opiate Alkaloids Phase 1
10 Analgesics, Opioid Phase 1
11 Narcotic Antagonists Phase 1
12 Fluorodeoxyglucose F18 Phase 1
13 Immunosuppressive Agents Phase 1
14 Immunologic Factors Phase 1
15 Antiviral Agents Phase 1
16 Antineoplastic Agents, Immunological Phase 1
17
Methylene blue Approved, Investigational 61-73-4
18
Choline Approved, Nutraceutical 62-49-7 305
19 Anesthetics
20 Cola
21 Antimetabolites
22 Gastrointestinal Agents
23 Hypolipidemic Agents
24 Nootropic Agents
25 Lipid Regulating Agents

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Tau Positron Emission Tomography (PET) Imaging in the Northern Manhattan Study of Metabolism and Mind (NOMEM) With 18F-MK6240. Enrolling by invitation NCT03389100 Phase 2 18F-MK6240 injection
2 Pharmacodynamic Response Assessment With PET/MRI Imaging in Patients With Metastatic Prostate CAncer to Bone Treated With ZD4054 Terminated NCT01119118 Phase 2 ZD4054
3 An Open-label, Non-randomized [11C]Carfentanil PET Study in Healthy Male Subjects to Investigate Brain Mu-opioid Receptor Occupancy, Pharmacokinetics, and Pharmacodynamics of Single Oral Doses of GSK1521498 and Naltrexone. Completed NCT00976066 Phase 1 Part A Assessing GSK1521498;Part B Assessing GSK1521498;Part C Assessing Naltrexone
4 A Multicenter Phase Ib Trial to Measure [18F]-Fluorodeoxyglucose Uptake by Positron Emission Tomography in Stage IIIB and IV Non-Small Cell Lung Cancer Before and After Chemotherapy With Gemcitabine and Cisplatin or Carboplatin Completed NCT00599755 Phase 1 Gemcitabine and Cisplatin or Gemcitabine and Carboplatin
5 Imaging of HER2-positive Cancer With Site-Specifically Labeled 89Zr-ss-Pertuzumab Recruiting NCT04692831 Phase 1
6 Preoperative Stereoscopic Localization Versus Methylene Blue Localization in GGO Patients With Lung Wedge Resection:A Prospective Self-control Study. Unknown status NCT03252210
7 A Randomized Controlled Trial Comparing High-definition White Light Colonoscopy to I-Scan Enhanced Colonoscopy for Adenoma Detection in a Population at Increased Risk of Colorectal Cancer. (A Pilot Study) Completed NCT01617278
8 Mindfulness Training to Promote Healthy Diet and Physical Activity in Teens Completed NCT01975896
9 Exploring Synergistic Effects Of Aerobic Exercise And Mindfulness Training On Cognitive Function In Older Adults: A Pilot, Proof Of Concept Study Completed NCT03289546
10 [Al18F]PSMA137 PET/CT Imaging for PSMA-Positive Cancer Patients Recruiting NCT04693169 11C-Choline
11 Trial of Flexible Bracing Treatment of Adolescents Idiopathic Scoliosis Not yet recruiting NCT04116723
12 Brain Blood Flow Changes Elicited by Oxytocin in Healthy and Schizophrenic Volunteers, an Assessment Using Positron Emission Tomography and 15-Oxygen Labeled Water Withdrawn NCT01123317 Oxytocin
13 A Feasibility Study Using Fluorine-18-Labeled Fluoro-Misonidazole Positron Emission Tomography to Detect Hypoxia in Locally Advanced (T3-T4 and./or N1)Primary Rectal Cancer Patients Withdrawn NCT00574353

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, with Axonal Neuropathy 2 29 SETX

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

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

40
Eye, Cerebellum, Spinal Cord, Bone, Breast, Prostate, Brain

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

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

(show top 50) (show all 115)
# Title Authors PMID Year
1
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. 57 6 61 25
19696032 2009
2
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. 57 25 6 61
18625865 2008
3
In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. 25 57 6 61
17096168 2007
4
Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. 61 25 57 6
16717225 2006
5
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. 61 6 25 57
14770181 2004
6
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. 25 6 57
15732101 2005
7
Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage. 25 6 61
24814856 2014
8
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. 61 6 25
23941260 2013
9
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families. 61 25 57
23111195 2012
10
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. 61 25 57
19440741 2010
11
Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. 25 6 61
19141356 2009
12
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. 25 61 57
16636238 2006
13
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. 57 25 61
14736755 2004
14
Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2. 25 6
17159128 2006
15
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). 25 6
15106121 2004
16
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. 61 6
24105744 2013
17
Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1. 61 57
23786967 2013
18
Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide. 61 6
24244371 2013
19
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. 61 6
22065524 2012
20
Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin. 6 61
19593598 2010
21
Senataxin resolves RNA:DNA hybrids forming at DNA double-strand breaks to prevent translocations. 61 25
29416069 2018
22
Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein. 61 25
29127364 2017
23
Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration. 61 25
27771483 2017
24
Sen1, the homolog of human Senataxin, is critical for cell survival through regulation of redox homeostasis, mitochondrial function, and the TOR pathway in Saccharomyces cerevisiae. 61 25
27718307 2016
25
Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing. 61 25
27644330 2016
26
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
27
More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes. 25 61
27536460 2016
28
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 6
26257172 2015
29
Senataxin suppresses the antiviral transcriptional response and controls viral biogenesis. 25 61
25822250 2015
30
Unwinding the role of senataxin in neurodegeneration. 61 25
25725227 2015
31
Pseudodominant AOA2. 61 25
26331048 2015
32
Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival. 25 61
24090759 2013
33
Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2. 25 61
23475383 2013
34
Senataxin protects the genome: Implications for neurodegeneration and other abnormalities. 61 25
25003001 2013
35
MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus. 25 61
24179805 2013
36
SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy. 6
22088787 2012
37
Cognitive functions in ataxia with oculomotor apraxia type 2. 25 61
23015802 2012
38
Senataxin modulates neurite growth through fibroblast growth factor 8 signalling. 6
21576111 2011
39
Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression. 6
21438761 2011
40
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia. 61 25
21324166 2011
41
Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays. 61 25
20798953 2011
42
Sensory neuronopathy in ataxia with oculomotor apraxia type 2. 25 61
20869730 2010
43
(1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2. 25 61
20713024 2010
44
A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2). 25 61
19893583 2009
45
Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2. 25 61
19727998 2009
46
Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2. 25 61
19744353 2009
47
Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2. 25 61
19618424 2009
48
Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2). 25 61
18663494 2008
49
A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia. 25 61
18405395 2008
50
"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2). 25 61
18350359 2008

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

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

6 (show top 50) (show all 535)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SETX NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) SNV Pathogenic 2284 rs121434376 GRCh37: 9:135202898-135202898
GRCh38: 9:132327511-132327511
2 SETX NM_015046.7(SETX):c.2602C>T (p.Gln868Ter) SNV Pathogenic 2285 rs121434377 GRCh37: 9:135204383-135204383
GRCh38: 9:132328996-132328996
3 SETX NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) SNV Pathogenic 2286 rs28940290 GRCh37: 9:135156870-135156870
GRCh38: 9:132281483-132281483
4 SETX NM_015046.7(SETX):c.2967_2971del (p.Arg989fs) Deletion Pathogenic 2287 rs587776536 GRCh37: 9:135204014-135204018
GRCh38: 9:132328627-132328631
5 SETX NM_015046.7(SETX):c.994C>T (p.Arg332Trp) SNV Pathogenic 2288 rs29001665 GRCh37: 9:135206680-135206680
GRCh38: 9:132331293-132331293
6 SETX NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) SNV Pathogenic 2292 rs121434379 GRCh37: 9:135172296-135172296
GRCh38: 9:132296909-132296909
7 SETX NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) SNV Pathogenic 441280 rs116205032 GRCh37: 9:135205178-135205178
GRCh38: 9:132329791-132329791
8 SETX NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) SNV Pathogenic 2295 rs121434380 GRCh37: 9:135172294-135172294
GRCh38: 9:132296907-132296907
9 SETX NM_015046.7(SETX):c.1027G>T (p.Glu343Ter) SNV Pathogenic 2296 rs121434381 GRCh37: 9:135206510-135206510
GRCh38: 9:132331123-132331123
10 SETX NM_015046.7(SETX):c.340_342CTT[1] (p.Leu115del) Microsatellite Pathogenic 2297 rs587776537 GRCh37: 9:135221691-135221693
GRCh38: 9:132346304-132346306
11 SETX NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) Deletion Pathogenic 209188 rs797045067 GRCh37: 9:135172393-135172402
GRCh38: 9:132297006-132297015
12 PIK3R5 NM_001142633.3(PIK3R5):c.442G>T (p.Glu148Ter) SNV Pathogenic 1032659 GRCh37: 17:8796943-8796943
GRCh38: 17:8893626-8893626
13 SETX NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter) SNV Pathogenic 243082 rs879253866 GRCh37: 9:135163625-135163625
GRCh38: 9:132288238-132288238
14 SETX NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) SNV Pathogenic 2289 rs29001584 GRCh37: 9:135205819-135205819
GRCh38: 9:132330432-132330432
15 SETX NM_015046.7(SETX):c.5306_5307GA[1] (p.Glu1770fs) Microsatellite Pathogenic 448333 rs750959420 GRCh37: 9:135187207-135187210
GRCh38: 9:132311820-132311823
16 SETX NM_015046.7(SETX):c.6213_6214AG[1] (p.Glu2072fs) Microsatellite Pathogenic 561105 rs1564492117 GRCh37: 9:135163731-135163732
GRCh38: 9:132288344-132288345
17 SETX NM_015046.7(SETX):c.5264del (p.Thr1755fs) Deletion Pathogenic 572675 rs776632212 GRCh37: 9:135201721-135201721
GRCh38: 9:132326334-132326334
18 SETX NM_015046.7(SETX):c.6620A>T (p.Asp2207Val) SNV Pathogenic 807685 rs1564482221 GRCh37: 9:135156888-135156888
GRCh38: 9:132281501-132281501
19 SETX NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp) SNV Pathogenic 807686 rs1473613373 GRCh37: 9:135158733-135158733
GRCh38: 9:132283346-132283346
20 SETX NM_015046.7(SETX):c.719G>A (p.Gly240Asp) SNV Pathogenic 812548 rs1589757407 GRCh37: 9:135210114-135210114
GRCh38: 9:132334727-132334727
21 SETX NM_015046.7(SETX):c.2387_2390del (p.Lys796fs) Deletion Pathogenic 959106 GRCh37: 9:135204595-135204598
GRCh38: 9:132329208-132329211
22 SETX NM_015046.7(SETX):c.3247T>C (p.Phe1083Leu) SNV Pathogenic 1048755 GRCh37: 9:135203738-135203738
GRCh38: 9:132328351-132328351
23 SETX NM_015046.7(SETX):c.4679dup (p.Asn1560fs) Duplication Pathogenic 948110 GRCh37: 9:135202305-135202306
GRCh38: 9:132326918-132326919
24 SETX NM_015046.5(SETX):c.822G>H SNV Pathogenic 441281 rs997473183 GRCh37: 9:135210011-135210011
GRCh38: 9:132334624-132334624
25 SETX NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter) SNV Pathogenic 954451 GRCh37: 9:135163679-135163679
GRCh38: 9:132288292-132288292
26 SETX NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter) SNV Pathogenic 873523 GRCh37: 9:135202132-135202132
GRCh38: 9:132326745-132326745
27 SETX NM_015046.5(SETX):c.6848_6851delCAGA (p.Thr2283Lysfs) Microsatellite Pathogenic 95668 GRCh37: 9:135152531-135152534
GRCh38: 9:132277144-132277147
28 SETX NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) SNV Pathogenic/Likely pathogenic 807687 rs773379832 GRCh37: 9:135172398-135172398
GRCh38: 9:132297011-132297011
29 SETX NM_015046.7(SETX):c.6843-3_6843-1del Deletion Likely pathogenic 838820 GRCh37: 9:135152540-135152542
GRCh38: 9:132277153-132277155
30 SETX NM_015046.7(SETX):c.6038T>G (p.Val2013Gly) SNV Likely pathogenic 209189 rs797045068 GRCh37: 9:135171327-135171327
GRCh38: 9:132295940-132295940
31 SETX NM_015046.7(SETX):c.6106G>A (p.Gly2036Arg) SNV Likely pathogenic 242505 rs863224919 GRCh37: 9:135171259-135171259
GRCh38: 9:132295872-132295872
32 SETX NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) SNV Conflicting interpretations of pathogenicity 468516 rs146873848 GRCh37: 9:135202003-135202003
GRCh38: 9:132326616-132326616
33 SETX NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) SNV Conflicting interpretations of pathogenicity 424692 rs148604312 GRCh37: 9:135203159-135203159
GRCh38: 9:132327772-132327772
34 SETX NM_015046.7(SETX):c.5024del (p.Pro1675fs) Deletion Uncertain significance 522755 rs1554820021 GRCh37: 9:135201961-135201961
GRCh38: 9:132326574-132326574
35 SETX NM_015046.7(SETX):c.208A>G (p.Ile70Val) SNV Uncertain significance 536373 rs747469176 GRCh37: 9:135221828-135221828
GRCh38: 9:132346441-132346441
36 SETX NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) SNV Uncertain significance 448329 rs143661911 GRCh37: 9:135202552-135202552
GRCh38: 9:132327165-132327165
37 SETX NM_015046.7(SETX):c.2395C>T (p.His799Tyr) SNV Uncertain significance 448313 rs200459144 GRCh37: 9:135204590-135204590
GRCh38: 9:132329203-132329203
38 SETX NM_015046.7(SETX):c.2717C>T (p.Ser906Leu) SNV Uncertain significance 468495 rs148375192 GRCh37: 9:135204268-135204268
GRCh38: 9:132328881-132328881
39 SETX NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser) SNV Uncertain significance 468513 rs916634082 GRCh37: 9:135202226-135202226
GRCh38: 9:132326839-132326839
40 SETX NM_015046.7(SETX):c.4601A>T (p.Asp1534Val) SNV Uncertain significance 468510 rs1554820219 GRCh37: 9:135202384-135202384
GRCh38: 9:132326997-132326997
41 SETX NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser) SNV Uncertain significance 468511 rs1554820196 GRCh37: 9:135202315-135202315
GRCh38: 9:132326928-132326928
42 SETX NM_015046.7(SETX):c.2303A>T (p.Lys768Met) SNV Uncertain significance 468492 rs1554821462 GRCh37: 9:135204682-135204682
GRCh38: 9:132329295-132329295
43 SETX NM_015046.7(SETX):c.4051C>G (p.Gln1351Glu) SNV Uncertain significance 468504 rs375241191 GRCh37: 9:135202934-135202934
GRCh38: 9:132327547-132327547
44 SETX NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr) SNV Uncertain significance 468490 rs143727702 GRCh37: 9:135204980-135204980
GRCh38: 9:132329593-132329593
45 SETX NM_015046.7(SETX):c.7708_7710CCT[1] (p.Pro2571del) Microsatellite Uncertain significance 448348 rs770590408 GRCh37: 9:135139947-135139949
GRCh38: 9:132264560-132264562
46 SETX NM_015046.7(SETX):c.4903T>A (p.Leu1635Met) SNV Uncertain significance 468515 rs1466879487 GRCh37: 9:135202082-135202082
GRCh38: 9:132326695-132326695
47 SETX NM_015046.7(SETX):c.68C>T (p.Ser23Phe) SNV Uncertain significance 468520 rs1323126988 GRCh37: 9:135224748-135224748
GRCh38: 9:132349361-132349361
48 SETX NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) SNV Uncertain significance 468505 rs140147684 GRCh37: 9:135202889-135202889
GRCh38: 9:132327502-132327502
49 SETX NM_015046.7(SETX):c.-107C>T SNV Uncertain significance 365382 rs190832998 GRCh37: 9:135229135-135229135
GRCh38: 9:132353748-132353748
50 SETX NM_015046.7(SETX):c.2469C>G (p.Phe823Leu) SNV Uncertain significance 365365 rs141163823 GRCh37: 9:135204516-135204516
GRCh38: 9:132329129-132329129

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

72 (show all 15)
# Symbol AA change Variation ID SNP ID
1 SETX p.Trp305Cys VAR_018777 rs156454897
2 SETX p.Arg332Trp VAR_018778 rs29001665
3 SETX p.Pro413Leu VAR_018780 rs156454764
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 rs142227750
12 SETX p.Pro496Leu VAR_071683 rs132007112
13 SETX p.Met2229Thr VAR_071687 rs147182433
14 SETX p.Met274Val VAR_072587 rs753713810
15 SETX p.Leu1976Arg VAR_072588 rs121434379

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
12.68 WASF1 WAS PRKCG PIK3R5 ACTA1
2
Show member pathways
12.08 WASL WAS PRKCG ACTA1
3
Show member pathways
12.01 WASF1 WAS PRKCG PIK3R5
4
Show member pathways
11.95 WASL WASF1 WAS PIK3R5 ACTA1
5
Show member pathways
11.95 WAS PRKCG PIK3R5 CACNA1A ACTA1
6 11.57 WASF1 WAS PRKCG
7 11.18 WASL WASF1 WAS
8 10.23 WASF1 WAS ACTA1

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 10 WASL WASF1 WAS SETX SACS RNASEH1
2 actin filament GO:0005884 9.13 WASL WAS ACTA1
3 actin cytoskeleton GO:0015629 8.92 WASL WASF1 WAS ACTA1

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 protein-containing complex assembly GO:0065003 9.58 WASL WASF1 WAS
2 actin polymerization or depolymerization GO:0008154 9.37 WASL WAS
3 actin filament-based movement GO:0030048 9.32 WASL WAS
4 nuclear-transcribed mRNA catabolic process GO:0000956 9.26 XRN2 EXOSC9
5 DNA-templated transcription, termination GO:0006353 9.16 XRN2 SETX
6 actin filament polymerization GO:0030041 9.13 WASL WASF1 WAS
7 positive regulation of Arp2/3 complex-mediated actin nucleation GO:2000601 8.8 WASL WASF1 WAS

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.5 XRN2 U2AF1 SETX RNASEH1 PRRC2B EXOSC9
2 GTPase regulator activity GO:0030695 9.16 WASL WAS
3 transcription termination site sequence-specific DNA binding GO:0001147 8.62 XRN2 SETX

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

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
Content
Loading form....