SACS
MCID: SPS150
MIFTS: 57

Spastic Ataxia, Charlevoix-Saguenay Type (SACS)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Ataxia, Charlevoix-Saguenay Type

MalaCards integrated aliases for Spastic Ataxia, Charlevoix-Saguenay Type:

Name: Spastic Ataxia, Charlevoix-Saguenay Type 57 43 13 70
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay 57 25 20 43 58 72 36
Charlevoix-Saguenay Spastic Ataxia 57 12 20 43 29 6 15
Arsacs 57 25 20 43 58 72 54
Spastic Ataxia Charlevoix-Saguenay Type 20 72 44
Spax6 57 58 72
Sacs 57 20 72
Autosomal Recessive Spastic Ataxia Type 6 25 58
Spastic Ataxia 6, Autosomal Recessive 57 72
Spastic Ataxia of Charlevoix-Saguenay 20 43
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay; Arsacs 57
Spastic Ataxia 6, Autosomal Recessive; Spax6 57
Ataxia, Spastic, Charlevoix-Saguenay Type 39
Atx/hsp-Sacs 25

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic ataxia of charlevoix-saguenay
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

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

Miscellaneous:
later onset has been reported
onset usually in infancy or early childhood
most patients become wheelchair-bound
high prevalence in charlevoix-saguenay region of northeastern quebec
estimated carrier frequency in charlevoix-saguenay region is 1/22


HPO:

31
spastic ataxia, charlevoix-saguenay type:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Ataxia, Charlevoix-Saguenay Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98 Definition Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy. Epidemiology It was initially described in the Charlevoix-Saguenay region of Quebec where incidence of ARSACS at birth has been estimated at 1 in 1,932. The incidence and prevalence worldwide remain unknown but ARSACS is very rare in other countries with cases described from Turkey, Japan, The Netherlands, Italy, Belgium, France and Spain. Clinical description The age of onset in non-Quebec patients is variable (ranging from late infantile, juvenile to early-adult onset) but in individuals from Quebec, onset occurs between 12 and 18 months of age with gait disturbance and walking difficulties. Other early signs of cerebellar ataxia include dysarthria and nystagmus. The spasticity is progressive and eventually dominates the clinical picture. The pyramidal syndrome is characterised by brisk patellar tendon reflexes and the Babinski sign. Onset of the peripheral neuropathy generally occurs later and leads to absence of the Achilles tendon reflex, distal amyotrophy and deep sensory disturbances (impaired vibration sense). Retinal hypermyelination (without vision loss) is a constant feature in ARSACS patients from Quebec but may be absent in patients from other countries. Lack of leg spasticity has been reported in some Japanese families and intellectual deficit may be a feature in some non-Quebec patients. Other manifestations may include mitral valve prolapse, pes cavus, and bladder dysfunction. Etiology ARSACS is caused by autosomal recessive mutations in the SACS gene (13q11), which encodes a large protein of unknown function named sacsin. Diagnostic methods Clinical diagnosis relies on the results of neuroimaging studies ( MRI and CT scans revealing atrophy of the upper cerebellar vermis and cervical spinal cord) and neurophysiological data (signs of both axonal and demyelinating neuropathy, with nerve conduction studies revealing loss of sensory nerve conduction and reduced motor conduction velocities). Retinal examination may also be useful for diagnosis. Diagnosis can be confirmed by detection of SACS mutations. Differential diagnosis Differential diagnoses include other autosomal recessive ataxias, such as Friedreich ataxia and ataxia with vitamin E deficiency (AVED), and hereditary forms of spastic paraplegia (see these terms), in particular spastic paraplegia 20 (SPG20-Troyer syndrome). Antenatal diagnosis Prenatal diagnosis is possible when the disease-causing mutation has been identified and genetic counselling should be offered to affected families. Management and treatment Treatment is symptomatic aiming towards controlling the spasticity and should include physiotherapy, pharmacotherapy and use of ankle-foot orthoses. Prognosis Most patients become wheelchair-bound by the 5th decade of life. Death generally occurs during the sixth decade but survival into the seventies has been reported.

MalaCards based summary : Spastic Ataxia, Charlevoix-Saguenay Type, also known as autosomal recessive spastic ataxia of charlevoix-saguenay, is related to neuropathy and chronic polyneuropathy, and has symptoms including scanning speech, muscle spasticity and urgency of micturition. An important gene associated with Spastic Ataxia, Charlevoix-Saguenay Type is SACS (Sacsin Molecular Chaperone). The drugs Menotropins and Hyaluronic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are dysarthria and mitral valve prolapse

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has material basis in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12.

MedlinePlus Genetics : 43 Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms and legs (peripheral neuropathy).Additional muscle problems that can occur in ARSACS include muscle wasting (amyotrophy), involuntary eye movements (nystagmus), and difficulty swallowing (dysphagia) and speaking (dysarthria). Other features of ARSACS involve high-arched feet (pes cavus), a spine that curves to the side (scoliosis), yellow streaks of fatty tissue in the light-sensitive tissue at the back of the eye (hypermyelination of the retina), urinary tract problems, intellectual disability, hearing loss, and recurrent seizures (epilepsy).An unsteady walking style (gait) is the first symptom of ARSACS. Walking problems usually begin between the ages of 12 months and 18 months, as toddlers are learning to walk. These movement problems worsen over time, with increased spasticity and ataxia of the arms and legs. In some cases spasticity goes away, but this apparent improvement is thought to be due to the wasting away (atrophy) of nerves in the arms and legs. Most affected individuals require wheelchair assistance by the time they are in their thirties or forties.While this condition was named after the area in which it was first seen, the Charlevoix-Saguenay region of Quebec, Canada, ARSACS has been identified in individuals worldwide.

OMIM® : 57 Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a complex neurodegenerative disorder usually characterized by early childhood onset of cerebellar ataxia, pyramidal tract signs, and peripheral neuropathy. Most patients become wheelchair-bound; cognitive function is usually not affected. Some patients may have atypical features, such as later onset or initial presentation of peripheral neuropathy (summary by Baets et al., 2010). (270550) (Updated 05-Apr-2021)

KEGG : 36 Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia related to progressive degeneration of the cerebellum and spinal cord. ARSACS is clinically characterized by spasticity, ataxia, polyneuropathy, retinal changes, and in some cases late cognitive decline. Patients demonstrate an unsteady gait and experience frequent falls as they learn to walk. ARSACS is caused by mutations in the SACS gene, encoding a large protein sacsin. A recent study demonstrated that sacsin may interact with the Hsp70 chaperone machinery, which is an important component of the cellular response towards aggregation prone mutant proteins that are associated with neurodegenerative diseases.

UniProtKB/Swiss-Prot : 72 Spastic ataxia Charlevoix-Saguenay type: A neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features include dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse.

Wikipedia : 73 Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a very rare neurodegenerative... more...

GeneReviews: NBK1255

Related Diseases for Spastic Ataxia, Charlevoix-Saguenay Type

Diseases related to Spastic Ataxia, Charlevoix-Saguenay Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 212)
# Related Disease Score Top Affiliating Genes
1 neuropathy 31.4 SETX SACS APTX
2 chronic polyneuropathy 31.3 TTPA SACS
3 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 31.3 TTPA SETX FXN APTX
4 spastic ataxia 31.2 SETX SACS FXN APTX
5 spinocerebellar ataxia, autosomal recessive 8 31.1 SETX SACS
6 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 30.1 TTPA SETX SACS FXN APTX
7 cerebellar disease 30.1 TTPA SETX SACS FXN APTX
8 dentatorubral-pallidoluysian atrophy 30.0 TTPA SETX SACS FXN APTX
9 autosomal dominant cerebellar ataxia 30.0 TTPA SETX SACS FXN APTX
10 hereditary ataxia 29.9 TTPA SETX SACS FXN ATCAY APTX
11 autosomal recessive cerebellar ataxia 29.0 SETX FXN APTX
12 dystonia 28.4 TTPA SETX ATCAY APTX
13 cerebellar ataxia, early-onset, with retained tendon reflexes 11.5
14 pulmonary disease, chronic obstructive 11.3
15 autosomal recessive spastic ataxia 11.2
16 spasticity 11.1
17 hereditary spastic paraplegia 11.1
18 pneumonia 11.1
19 surfactant dysfunction 11.1
20 diffuse large b-cell lymphoma 11.1
21 tarlov cysts 11.0
22 3-methylglutaconic aciduria, type iii 11.0
23 pneumothorax, primary spontaneous 11.0
24 von hippel-lindau syndrome 11.0
25 arachnoid cysts, intracranial 11.0
26 pulmonary alveolar microlithiasis 11.0
27 cryptogenic organizing pneumonia 11.0
28 polycystic kidney disease 11.0
29 interstitial lung disease 11.0
30 hydranencephaly 11.0
31 spinocerebellar ataxia, autosomal recessive 14 10.8
32 spastic paraplegia 57, autosomal recessive 10.8
33 spastic ataxia 4 10.8
34 transitional papilloma 10.8
35 fitzsimmons syndrome 10.8
36 rare ataxia 10.8
37 complex hereditary spastic paraplegia 10.8
38 pulmonary fibrosis, idiopathic 10.8
39 spinal intradural arachnoid cysts 10.8
40 storage pool platelet disease 10.8
41 lung cancer 10.8
42 goodpasture syndrome 10.8
43 alveolar capillary dysplasia with misalignment of pulmonary veins 10.8
44 maturity-onset diabetes of the young 10.8
45 pulmonary alveolar proteinosis, acquired 10.8
46 alpha-1-antitrypsin deficiency 10.8
47 asphyxiating thoracic dystrophy 10.8
48 dowling-degos disease 10.8
49 cakut 10.8
50 premature menopause 10.8

Graphical network of the top 20 diseases related to Spastic Ataxia, Charlevoix-Saguenay Type:



Diseases related to Spastic Ataxia, Charlevoix-Saguenay Type

Symptoms & Phenotypes for Spastic Ataxia, Charlevoix-Saguenay Type

Human phenotypes related to Spastic Ataxia, Charlevoix-Saguenay Type:

58 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 very rare (1%) Frequent (79-30%) HP:0001260
2 mitral valve prolapse 58 31 frequent (33%) Frequent (79-30%) HP:0001634
3 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
4 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
5 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
6 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
7 cerebellar vermis hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001320
8 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
9 demyelinating peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007108
10 lower limb spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002061
11 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
12 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
13 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
14 arachnoid cyst 58 31 frequent (33%) Frequent (79-30%) HP:0100702
15 sensorimotor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007141
16 gaze-evoked horizontal nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0007979
17 abnormality of the pons 58 31 frequent (33%) Frequent (79-30%) HP:0007361
18 abnormal motor evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0012896
19 parietal cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012104
20 hypermyelinated retinal nerve fibers 58 31 very rare (1%) Frequent (79-30%) HP:0007922
21 abnormality of the cerebellar peduncle 58 31 frequent (33%) Frequent (79-30%) HP:0011931
22 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
23 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
24 gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002066
25 impaired vibratory sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002495
26 intention tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002080
27 distal amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003693
28 foot dorsiflexor weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009027
29 absent achilles reflex 58 31 occasional (7.5%) Occasional (29-5%) HP:0003438
30 impaired tactile sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0010830
31 abnormal foot morphology 31 occasional (7.5%) HP:0001760
32 ataxia 58 31 very rare (1%) Frequent (79-30%) HP:0001251
33 impotence 58 31 very rare (1%) Very rare (<4-1%) HP:0000802
34 scoliosis 31 very rare (1%) HP:0002650
35 nystagmus 31 very rare (1%) HP:0000639
36 pes cavus 31 very rare (1%) HP:0001761
37 decreased motor nerve conduction velocity 31 very rare (1%) HP:0003431
38 cerebellar vermis atrophy 31 very rare (1%) HP:0006855
39 spastic gait 31 very rare (1%) HP:0002064
40 urinary urgency 31 very rare (1%) HP:0000012
41 peroneal muscle atrophy 31 very rare (1%) HP:0009049
42 hyperactive patellar reflex 31 very rare (1%) HP:0007083
43 intellectual disability 31 HP:0001249
44 spasticity 58 Frequent (79-30%)
45 hyperreflexia 31 HP:0001347
46 abnormal pyramidal sign 58 Frequent (79-30%)
47 muscle weakness 58 Frequent (79-30%)
48 abnormality of the foot 58 Occasional (29-5%)
49 peripheral neuropathy 58 Frequent (79-30%)
50 abnormal cerebellum morphology 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
dysarthria
dysmetria
scanning speech
more
Skeletal Feet:
pes cavus
hammertoes

Skeletal Hands:
swan neck-like deformities of the fingers

Muscle Soft Tissue:
distal muscle weakness due to peripheral neuropathy

Head And Neck Eyes:
nystagmus
impaired smooth pursuit
retinal striation
hypermyelinated retinal fibers

Genitourinary Bladder:
urinary urgency

Neurologic Peripheral Nervous System:
loss of large myelinated fibers
decreased sensory nerve conduction velocities (ncv)
distal sensory loss, especially vibratory sense
decreased motor ncv

Clinical features from OMIM®:

270550 (Updated 05-Apr-2021)

UMLS symptoms related to Spastic Ataxia, Charlevoix-Saguenay Type:


scanning speech; muscle spasticity; urgency of micturition

GenomeRNAi Phenotypes related to Spastic Ataxia, Charlevoix-Saguenay Type according to GeneCards Suite gene sharing:

26 (show all 34)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-103 10.05 SACS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 10.05 SACS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 10.05 ARHGEF15
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.05 ARHGEF15
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 10.05 SACS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.05 FXN TTPA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.05 ARHGEF15
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 10.05 SACS
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 10.05 SACS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.05 SACS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.05 ARHGEF15
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.05 TTPA
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-46 10.05 SACS
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 10.05 ARHGEF15
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.05 TTPA
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 10.05 SACS
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.05 FXN TTPA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.78 ATCAY
19 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.78 FXN
20 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.78 ATCAY
21 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.78 ATCAY
22 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.78 FXN TTPA
23 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.78 ARHGEF15
24 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.78 FXN
25 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.78 FXN
26 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.78 ATCAY
27 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.78 ATCAY
28 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.78 ARHGEF15
29 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.78 ATCAY
30 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.78 FXN TTPA
31 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.78 ARHGEF15 TTPA
32 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.78 FXN
33 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.78 ARHGEF15
34 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.78 ARHGEF15

Drugs & Therapeutics for Spastic Ataxia, Charlevoix-Saguenay Type

Drugs for Spastic Ataxia, Charlevoix-Saguenay Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 131)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menotropins Approved Phase 4 9002-68-0, 61489-71-2 5360545
2
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
3
Bromfenac Approved Phase 4 91714-94-2 60726
4
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
5
Timolol Approved Phase 4 26839-75-8 33624 5478
6
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
7
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
9
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
10
Maleic acid Experimental Phase 4 110-16-7 444266
11 Chorionic Gonadotropin Phase 4
12 Triptorelin Pamoate Phase 4
13 Analgesics, Non-Narcotic Phase 4
14 Analgesics Phase 4
15 Antirheumatic Agents Phase 4
16 Anti-Inflammatory Agents, Non-Steroidal Phase 4
17 Antihypertensive Agents Phase 4
18 Hormone Antagonists Phase 4
19 Hormones Phase 4
20 Progestins Phase 4
21
Lactitol Approved, Investigational Phase 3 585-86-4 157355
22
Tobramycin Approved, Investigational Phase 3 32986-56-4 5496 36294
23
Loteprednol Approved, Experimental Phase 3 82034-46-6, 129260-79-3 9865442 444025
24
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774
25
Saw palmetto Approved, Experimental, Investigational Phase 3
26
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
27 Anti-Allergic Agents Phase 3
28 Neurotransmitter Agents Phase 3
29 Olopatadine Hydrochloride Phase 3
30 Histamine H1 Antagonists, Non-Sedating Phase 3
31
Histamine Phosphate Phase 3 51-74-1 65513
32 Histamine H1 Antagonists Phase 3
33 Histamine Antagonists Phase 3
34 Saw palmetto extract Phase 3
35 Estrogens Phase 3
36 Immunosuppressive Agents Phase 3
37 Immunologic Factors Phase 3
38 Antiviral Agents Phase 3
39 Antimetabolites Phase 3
40
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
41
Tetracaine Approved, Vet_approved Phase 1, Phase 2 94-24-6 5411
42
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
43
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
44
Sodium citrate Approved, Investigational Phase 2 68-04-2
45
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
46
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
47
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
48
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
49
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
50
Mineral oil Approved, Vet_approved Phase 2 8042-47-5

Interventional clinical trials:

(show top 50) (show all 113)
# Name Status NCT ID Phase Drugs
1 Trans-vaginal Aspiration With or Without Injection of Surgicel for Treatment of Small Ovarian Endometrioma Before ICSI Cycles. A Randomized Controlled Trial Unknown status NCT03784404 Phase 4 Intracytoplasmic sperm injection
2 Early and Late Results of Transinguinal Preperitoneal Patch Repair Versus Anterior Pre-Trasversalis Mesh Repair. A Randomised Study Completed NCT01350830 Phase 4
3 Efficacy and Safety of PRO-155 (Zebesten Ofteno®) on Inflammation of the Conjunctival Surface in Subjects With Grade I-III Pterygium vs Placebo. Completed NCT03521791 Phase 4 PRO-155
4 Safety and Efficacy Assessment of Geltim LP® 1 mg/g (Unpreserved Timolol Gel - TG1030) in Ocular Hypertensive or Glaucomatous Patients Stabilized by Xalatan® With Ocular Intolerance Signs. Completed NCT01155219 Phase 4 Geltim LP 1 mg/g;Xalatan
5 Comparative Efficacy of Two Different Regimens of Povidone-iodine 5% Eye Drops Instillation in Reducing Conjunctival Bacterial Flora Completed NCT01739920 Phase 4
6 Early Progesterone Cessation After in Vitro Fertilization Completed NCT01177904 Phase 4
7 Prospective Randomized, Double-blind, Controlled Trial Comparing Lichtenstein's Repair of Inguinal Hernia With Polypropylene Mesh Versus Surgisis ES Soft Tissue Graft Completed NCT00614419 Phase 4
8 A Randomised Controlled Trial to Compare Success and Complication Rates in Endonasal Dacryocystorhinostomy Surgery With and Without Silicone Tubes Completed NCT00784992 Phase 4
9 Peritoneal Cavity Conditioning During Laparoscopic Surgery Decreases Postoperative Pain, Inflammatory Reaction and Postoperative Adhesions Terminated NCT01344486 Phase 4
10 Prospective Randomized Phase III Study of Laparoscopic Repair of Giant Hiatal Hernias With Nitinol-framed Lightweight Polytetrafluoroethylene Mesh Unknown status NCT01780285 Phase 3
11 Prospective Randomized Phase III Study of Laparoscopic Lightweight Mesh Repair of Large Hiatal Hernias Unknown status NCT01408108 Phase 3
12 Euphrasia Eye Drops in Preterm Infants With First Signs of Congestion of Nasolacrimal Duct - a Randomized Double-blind Controlled Trial Completed NCT04122300 Phase 3 Euphrasia Officinalis Preparation;Placebo
13 An Evaluation of the Safety and Efficacy of Moxifloxacin AF Ophthalmic Solution 0.5% for the Treatment of Bacterial Conjunctivitis in India Completed NCT00332293 Phase 3 Moxifloxacin Alternative Formulation Ophthalmic Solution 0.5%;Moxifloxacin hydrochloride ophthalmic solution 0.5% as base
14 A Clinical Safety and Efficacy Evaluation of Alrex® (Loteprednol Etabonate Ophthalmic Suspension, 0.2%) Versus Patanol (Olopatadine Hydrochloride Ophthalmic Solution, 0.1%) in the Treatment of Seasonal Allergic Conjunctivitis (SAC) Completed NCT01435460 Phase 3 Loteprednol etabonate 0.2%;Olopatadine 0.1%
15 Duration of Estrogen for Luteal Phase in Pregnant Women Undergone Frozen Embryo Transfer Cycles- Randomized Controlled Trials Phase III Completed NCT04013438 Phase 3 Strogen;Strogen
16 Role of Intrathecal Chemotherapy With Liposomal Cytarabine (DepoCyte®) in Patients Wih Leptomeningeal Metastasis of Breast Cancer. A Randomized Phase III Study. Completed NCT01645839 Phase 3 Liposomal Cytarabine
17 Evaluation of the Safety and Efficacy of VIGADEXA Ophthalmic Gel Compared to VIGADEXA Ophthalmic Solution in Preventing Inflammation and Infection Following Cataract Surgery Withdrawn NCT01515826 Phase 3 Moxifloxacin 0.5%/Dexamethasone Phosphate 0.075% Ophthalmic Gel (VIGADEXA Gel);Moxifloxacin 0.5%/Dexamethasone Phosphate 0.1% Ophthalmic Solution (VIGADEXA Solution)
18 A Comparative Study of Recessive Spherical Headed Silicone Intubation and Dacryocystorhinostomy Under Nasal Endoscopy in the Treatment of Nasolacrimal Duct Obstruction Completed NCT02636257 Phase 1, Phase 2
19 A Multi-Center, Randomized, Double-Masked Evaluation of the Efficacy of Co-Administration of FOV1101-00 (Cyclosporine 0.01% or 0.02%) and Prednisolone Acetate 0.12% (PredMild®) Compared to Prednisolone Acetate 1% Alone or Vehicle Alone in Patients With Mild Ongoing Ocular Allergic Inflammation Completed NCT00833495 Phase 2 Prednisolone Acetate 0.12% (Pred Mild®);FOV1101-00;Prednisolone Acetate 1% (Pred Forte®);Placebo
20 Phase 2 EFFICACY AND SAFETY OF HYDROCORTISONE OPHTHALMIC OINTMENT - VERSUS PLACEBO IN THE TREATMENT OF ALLERGIC CONJUNCTIVITIS Terminated NCT01860664 Phase 2 hydrocortisone ophthalmic ointment 0.5%;placebo
21 The Improvement of Limbal Epithelial Culture Technique for the Treatment of Unilateral Limbal Insufficiency by Using Collagenase to Isolate Limbal Stem Cells Unknown status NCT02202642 Phase 1
22 Validation of the Simple Acute Coronary Syndrome (SACS) Score and Head-to-Head Comparison of the SACS vs. Modified TIMI vs. HEART ACS Scores Unknown status NCT02358148
23 Trans-inguinal Pre-peritoneal (TIPP) Hernioplasty Versus Lichtnestein's Technique in Inguinal Hernia Repair Unknown status NCT03438786
24 A Prospective, Randomised, Single-masked Comparison of Topical Anesthesia and Topical Combined Subconjunctival (Two-step) Anesthesia in Intravitreal Injection Unknown status NCT03871062
25 The Use of Punctal Plugs in Reducing Iodine Related Ocular Surface Discomfort Unknown status NCT03396809
26 Endoscopy Assisted Probing Versus Simple Probing in Patients With Primary Congenital Nasolacrimal Duct Obstruction: A Randomized Clinical Trial Unknown status NCT03242681
27 Tissue Engineering Conjunctiva Transplantation and Conjunctival Sac Formation for the Treatment of Pterygium and Atretoblepharia Unknown status NCT02911532
28 Prospective, Randomized, Controlled, Open Label, All China, Multi-Center, Registration Trial of the MICROPORT NEUROTECH Coil Embolization System for the Traetment of Intracranial Aneurysms Unknown status NCT02990156
29 Relation of Implantation Site to Placental Site With or Without Cesarean Section Scar Unknown status NCT02765984
30 A Prospective, Randomised, Single-masked Comparison of Retrobulbar Anesthesia, Peribulbar Anesthesia and Topical Combined Subconjunctival(Two-step) Anesthesia in Posterior Vitrectomy Unknown status NCT03577574
31 Comparative Study Between Operative Hysteroscopy Versus the Ultrasound Guided Vacuum Aspiration Versus the Blind Vacuum Aspiration for the Treatment of the Missed Abortion Unknown status NCT03081104
32 Relation of Implantation Site to Placental Site in Presence or Absence of Cesarean Section Scar With Doppler Assessment of Retro Chorionic Blood Flow Unknown status NCT03208842
33 Evaluation of the Safety and Efficacy of Multiple Overlapping Uncovered Stents for Endovascular Pararenal Aortic Aneurysm Repair Unknown status NCT01985906
34 Effect of Modified Laparoscopic Roux-en-Y Gastric Bypass Surgery on Type 2 Diabetics With Lower Body Mass Index in China Unknown status NCT02091323
35 Repair of Complex Recurrent Incisional Hernias With The Bony Anchoring Reinforcement System (BARS) Unknown status NCT01644695
36 Evaluation of the Stinging Potential of Products in Human Eyes Completed NCT02802917 SPF 50 Y49 091 (BAY 987516);SPF 50 X15 158 (BAY 987516);SPF 50 X15 160 (BAY 987516);SPF 50 X57 162 (BAY 987516)
37 Needlescopic Inversion and Snaring for Inguinal Hernia in Girls Using 1.6-mm Instruments Completed NCT04628455
38 Inguinal Hernioplasty: Comparative Study Between Laparoscopic Dual Approach, Laparoscopic Trans Abdominal Preperitoneal and Lichtenstein Procedures. A Prospective Randomized Controlled Trial Completed NCT03052023
39 Laparoscopic Inguinal Hernia Repair in Infancy and Childhood; a Prospective Controlled Randomized Study of Two Different Technique Completed NCT02239185
40 Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors Completed NCT00001668
41 Breath Training Exercise for the Reduction of Chronic Dyspnea: a Pilot Study Completed NCT01831388
42 Viscoat Versus Visthesia. A Comparative Study of Post-cataract Endothelial Cell Loss Completed NCT02304861
43 Ultrasound Predictors of Early Pregnancy Failure in Patients With Recurrent Pregnancy Loss Completed NCT03178682
44 COMPARISON OF LAPAROSCOPIC TOTAL EXTRAPERITONEAL HERNIA REPAIR AND LICHTENSTEIN HERNIA REPAIR FOR SEXUAL, SENSORY, LIFE QUALITY AND URINARY FUNCTIONS Completed NCT03935503
45 Evaluation of the Irritation Potential of Sunscreen Products in Human Eyes Completed NCT02854137 BAY987521;Control
46 Analgesic Effect Of Topical Nepafenac 0.1% On Pain Related To Intravitreal Injections: A Randomized Crossover Study Completed NCT02821390 Nepafenac Eye Drops;Placebo (Artificial Tears)
47 A Retrospective Evaluation of the Intraocular Pressure Spikes With Loteprednol and Loteprednol/Tobramycin Completed NCT00834171 Loteprednol etabonate ophthalmic suspension 0.5%;Loteprednol etabonate (0.5%) and tobramycin (0.3%).
48 Evidence Based Management of Acute Biliary Pancreatitis Completed NCT04615702 Ringer lactate
49 Pregnancies of Uncertain Location or Viability Research Completed NCT02700789
50 Fetal Lung Maturation in Twin Gestations Based on Birth Order and Weight Discordance Completed NCT01385267

Search NIH Clinical Center for Spastic Ataxia, Charlevoix-Saguenay Type

Cochrane evidence based reviews: spastic ataxia charlevoix-saguenay type

Genetic Tests for Spastic Ataxia, Charlevoix-Saguenay Type

Genetic tests related to Spastic Ataxia, Charlevoix-Saguenay Type:

# Genetic test Affiliating Genes
1 Charlevoix-Saguenay Spastic Ataxia 29 SACS

Anatomical Context for Spastic Ataxia, Charlevoix-Saguenay Type

MalaCards organs/tissues related to Spastic Ataxia, Charlevoix-Saguenay Type:

40
Eye, Spinal Cord, Cerebellum, Retina, Pons, Liver, Placenta

Publications for Spastic Ataxia, Charlevoix-Saguenay Type

Articles related to Spastic Ataxia, Charlevoix-Saguenay Type:

(show top 50) (show all 109)
# Title Authors PMID Year
1
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. 25 54 57 6
18465152 2008
2
Identification of a SACS gene missense mutation in ARSACS. 54 6 57 25
14718708 2004
3
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. 57 6 54 25
10655055 2000
4
Mutations in SACS cause atypical and late-onset forms of ARSACS. 25 57 6
20876471 2010
5
A phenotype without spasticity in sacsin-related ataxia. 57 25 6
15985586 2005
6
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. 6 57 25
10053011 1999
7
Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family. 54 57 6
18569450 2008
8
Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. 57 6 54
12873855 2003
9
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. 25 57 54
18398442 2008
10
A novel mutation in SACS gene in a family from southern Italy. 57 6
14718706 2004
11
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin. 6 25
28535259 2017
12
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 6 25
26288984 2015
13
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. 6 25
23497566 2013
14
Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. 6 25
22816526 2013
15
Diversity of ARSACS mutations in French-Canadians. 6 25
23250129 2013
16
Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 25 6
21507954 2011
17
Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS. 25 6
20852969 2011
18
The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. 25 6
19208651 2009
19
An unusual case of a spasticity-lacking phenotype with a novel SACS mutation. 6 25
17349660 2007
20
Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. 25 6
11788093 2001
21
Autosomal recessive spastic ataxia of Charlevoix-Saguenay. 25 57
647499 1978
22
A novel SACS gene mutation in a Tunisian family. 54 6
19529988 2009
23
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene. 6 54
18484239 2008
24
Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon. 54 6
16606928 2006
25
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. 57 54
14718707 2004
26
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. 6
29915382 2019
27
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders. 6
29417091 2018
28
Jumping Mechanography as a Complementary Testing Tool for Motor Function in Children with Hereditary Motor and Sensory Neuropathy. 6
28641335 2017
29
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil. 6
28658401 2017
30
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy. 6
28491899 2017
31
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay. 6
27288452 2016
32
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. 57
27133561 2016
33
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 6
27217339 2016
34
Comorbidity in the Tunisian population. 6
26010040 2016
35
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. 6
26068213 2015
36
High-Throughput Screening for Ligands of the HEPN Domain of Sacsin. 6
26366743 2015
37
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 57
25401298 2015
38
Cerebellum and neuropsychiatric disorders: insights from ARSACS. 6
24318559 2014
39
Ataxia of Charlevoix-Saguenay: MR and Clinical Results in Lower-Limb Musculature. 6
24384335 2014
40
Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy. 6
23338241 2013
41
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. 6
23699708 2013
42
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture. 6
23280630 2013
43
Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders. 6
23043354 2013
44
Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing. 6
22751902 2012
45
Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies. 6
22805644 2012
46
New findings in the ataxia of Charlevoix-Saguenay. 6
21993619 2012
47
Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 6
21597885 2011
48
Is the ataxia of Charlevoix-Saguenay a developmental disease? 6
21665375 2011
49
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. 6
21450511 2011
50
Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays. 6
20798953 2011

Variations for Spastic Ataxia, Charlevoix-Saguenay Type

ClinVar genetic disease variations for Spastic Ataxia, Charlevoix-Saguenay Type:

6 (show top 50) (show all 706)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SACS NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg) SNV Affects 619025 rs773588375 GRCh37: 13:23906914-23906914
GRCh38: 13:23332775-23332775
2 SACS NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser) SNV Pathogenic 623376 rs1566054340 GRCh37: 13:23904561-23904561
GRCh38: 13:23330422-23330422
3 SACS NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile) SNV Pathogenic 623395 rs1566069517 GRCh37: 13:23913912-23913912
GRCh38: 13:23339773-23339773
4 SACS NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp) SNV Pathogenic 623396 rs1566071225 GRCh37: 13:23914960-23914960
GRCh38: 13:23340821-23340821
5 SACS NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs) Deletion Pathogenic 559869 rs1555251822 GRCh37: 13:23911674-23911677
GRCh38: 13:23337535-23337538
6 SACS NM_014363.6(SACS):c.262C>T (p.Arg88Ter) SNV Pathogenic 559870 rs1555255676 GRCh37: 13:23942624-23942624
GRCh38: 13:23368485-23368485
7 SACS NM_014363.6(SACS):c.1201C>T (p.Arg401Ter) SNV Pathogenic 843602 GRCh37: 13:23929550-23929550
GRCh38: 13:23355411-23355411
8 SACS NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter) SNV Pathogenic 977804 GRCh37: 13:23913082-23913082
GRCh38: 13:23338943-23338943
9 SACS NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter) SNV Pathogenic 689782 rs770490672 GRCh37: 13:23911581-23911581
GRCh38: 13:23337442-23337442
10 SACS NM_014363.6(SACS):c.2938_2939del (p.Met980fs) Deletion Pathogenic 689783 rs1593133306 GRCh37: 13:23915076-23915077
GRCh38: 13:23340937-23340938
11 SACS NM_014363.6(SACS):c.11633_11634AG[2] (p.Arg3879fs) Microsatellite Pathogenic 689784 rs1593121924 GRCh37: 13:23906377-23906378
GRCh38: 13:23332238-23332239
12 SACS NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter) SNV Pathogenic 802912 rs1593121484 GRCh37: 13:23906074-23906074
GRCh38: 13:23331935-23331935
13 SACS NM_014363.6(SACS):c.5151dup (p.Ser1718fs) Duplication Pathogenic 448205 rs754439135 GRCh37: 13:23912863-23912864
GRCh38: 13:23338724-23338725
14 SACS NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter) SNV Pathogenic 917652 GRCh37: 13:23912872-23912872
GRCh38: 13:23338733-23338733
15 SACS NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs) Deletion Pathogenic 928541 GRCh37: 13:23912011-23912015
GRCh38: 13:23337872-23337876
16 SACS NM_014363.6(SACS):c.11263_11264AT[1] (p.Ile3755fs) Microsatellite Pathogenic 550274 rs1400601705 GRCh37: 13:23906749-23906750
GRCh38: 13:23332610-23332611
17 SACS NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) SNV Pathogenic 280809 rs886041949 GRCh37: 13:23908710-23908710
GRCh38: 13:23334571-23334571
18 SACS NM_014363.6(SACS):c.961C>T (p.Arg321Ter) SNV Pathogenic 555502 rs1175545518 GRCh37: 13:23929790-23929790
GRCh38: 13:23355651-23355651
19 SACS NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) SNV Pathogenic 370283 rs565203731 GRCh37: 13:23906641-23906641
GRCh38: 13:23332502-23332502
20 SACS NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) SNV Pathogenic 556270 rs766711286 GRCh37: 13:23911660-23911660
GRCh38: 13:23337521-23337521
21 SACS NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) SNV Pathogenic 38458 rs281865120 GRCh37: 13:23905855-23905855
GRCh38: 13:23331716-23331716
22 SACS NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro) SNV Pathogenic 5514 rs137853016 GRCh37: 13:23905795-23905795
GRCh38: 13:23331656-23331656
23 SACS SACS, 1-BP DEL, 1411T Deletion Pathogenic 5515 GRCh37:
GRCh38:
24 SACS SACS, 1-BP INS, 1155A Insertion Pathogenic 5516 GRCh37:
GRCh38:
25 SACS NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) SNV Pathogenic 5517 rs137853017 GRCh37: 13:23912179-23912179
GRCh38: 13:23338040-23338040
26 SACS NM_014363.6(SACS):c.4033dup (p.Gln1345fs) Duplication Pathogenic 5518 rs606231163 GRCh37: 13:23913981-23913982
GRCh38: 13:23339842-23339843
27 SACS NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg) SNV Pathogenic 5519 rs137853018 GRCh37: 13:23908273-23908273
GRCh38: 13:23334134-23334134
28 SACS NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser) SNV Pathogenic 5520 rs137853019 GRCh37: 13:23914854-23914854
GRCh38: 13:23340715-23340715
29 SACS SACS, 10-BP DEL, NT32627 Deletion Pathogenic 5521 GRCh37:
GRCh38:
30 SACS SACS, 1-BP DEL, 31760T Deletion Pathogenic 5522 GRCh37:
GRCh38:
31 SACS NM_014363.6(SACS):c.13527dup (p.Glu4510fs) Duplication Pathogenic 212110 rs797045936 GRCh37: 13:23904487-23904488
GRCh38: 13:23330348-23330349
32 SACS NM_014363.6(SACS):c.1917_1918AC[1] (p.His640fs) Microsatellite Pathogenic 212111 rs797045937 GRCh37: 13:23928831-23928832
GRCh38: 13:23354692-23354693
33 SACS NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) SNV Pathogenic 371484 rs1057517311 GRCh37: 13:23912890-23912890
GRCh38: 13:23338751-23338751
34 SACS NM_014363.6(SACS):c.10644del (p.Phe3548fs) Deletion Pathogenic 522626 rs1555250160 GRCh37: 13:23907371-23907371
GRCh38: 13:23333232-23333232
35 SACS NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter) SNV Pathogenic 522627 rs1555252345 GRCh37: 13:23913430-23913430
GRCh38: 13:23339291-23339291
36 SACS NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter) SNV Pathogenic 522647 rs1360298758 GRCh37: 13:23907202-23907202
GRCh38: 13:23333063-23333063
37 SACS NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) Deletion Pathogenic 549687 rs1259615333 GRCh37: 13:23915109-23915112
GRCh38: 13:23340970-23340973
38 SACS NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) SNV Pathogenic 556533 rs1485209013 GRCh37: 13:23912296-23912296
GRCh38: 13:23338157-23338157
39 SACS NM_014363.6(SACS):c.8844del (p.Ile2949fs) Deletion Pathogenic 5512 rs281865117 GRCh37: 13:23909171-23909171
GRCh38: 13:23335032-23335032
40 SACS NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) SNV Pathogenic 5513 rs281865118 GRCh37: 13:23910511-23910511
GRCh38: 13:23336372-23336372
41 SACS NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) SNV Pathogenic 1027860 GRCh37: 13:23909299-23909299
GRCh38: 13:23335160-23335160
42 SACS NM_014363.6(SACS):c.11092C>T (p.Gln3698Ter) SNV Pathogenic 1033687 GRCh37: 13:23906923-23906923
GRCh38: 13:23332784-23332784
43 SACS NM_014363.6(SACS):c.8793del (p.Lys2931fs) Deletion Pathogenic/Likely pathogenic 449517 rs767871841 GRCh37: 13:23909222-23909222
GRCh38: 13:23335083-23335083
44 SACS NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) SNV Pathogenic/Likely pathogenic 458265 rs1160357920 GRCh37: 13:23913271-23913271
GRCh38: 13:23339132-23339132
45 SACS NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) SNV Pathogenic/Likely pathogenic 212108 rs780247476 GRCh37: 13:23907109-23907109
GRCh38: 13:23332970-23332970
46 SACS NM_014363.6(SACS):c.814C>T (p.Arg272Cys) SNV Pathogenic/Likely pathogenic 504884 rs374128662 GRCh37: 13:23929937-23929937
GRCh38: 13:23355798-23355798
47 SACS NM_014363.6(SACS):c.6172del (p.Ser2058fs) Deletion Pathogenic/Likely pathogenic 552153 rs1214399996 GRCh37: 13:23911843-23911843
GRCh38: 13:23337704-23337704
48 SACS NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter) SNV Likely pathogenic 633404 rs751568153 GRCh37: 13:23908345-23908345
GRCh38: 13:23334206-23334206
49 SACS NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) SNV Likely pathogenic 280095 rs752059006 GRCh37: 13:23927927-23927927
GRCh38: 13:23353788-23353788
50 SACS NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) SNV Likely pathogenic 450250 rs867249938 GRCh37: 13:23913783-23913783
GRCh38: 13:23339644-23339644

UniProtKB/Swiss-Prot genetic disease variations for Spastic Ataxia, Charlevoix-Saguenay Type:

72 (show all 24)
# Symbol AA change Variation ID SNP ID
1 SACS p.Asp168Tyr VAR_064801
2 SACS p.Thr201Lys VAR_064802
3 SACS p.Leu308Phe VAR_064803
4 SACS p.Leu556Pro VAR_064804
5 SACS p.Leu802Pro VAR_064805
6 SACS p.Cys991Arg VAR_064806
7 SACS p.Phe1054Ser VAR_064807 rs137853019
8 SACS p.Met1311Lys VAR_064808
9 SACS p.Arg1575Pro VAR_064809
10 SACS p.His1587Arg VAR_064810
11 SACS p.Trp1946Arg VAR_064811 rs137853017
12 SACS p.Arg2703Cys VAR_064813 rs780332615
13 SACS p.Pro2798Gln VAR_064814 rs140551762
14 SACS p.Trp3248Arg VAR_064816 rs137853018
15 SACS p.Leu3481Pro VAR_064817
16 SACS p.Arg3636Gln VAR_064818 rs281865119
17 SACS p.Leu3645Pro VAR_064819
18 SACS p.Pro3652Thr VAR_064820 rs201505036
19 SACS p.Phe3653Ser VAR_064821
20 SACS p.Ala4074Pro VAR_064822 rs137853016
21 SACS p.Arg4331Gln VAR_064823 rs773009784
22 SACS p.Glu4343Lys VAR_064824 rs749383532
23 SACS p.Lys4508Thr VAR_064825
24 SACS p.Asn4549Asp VAR_064826 rs117891263

Copy number variations for Spastic Ataxia, Charlevoix-Saguenay Type from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 75706 13 23300000 25500000 Deletion SACS Spastic ataxia of charlevoix-saguenay

Expression for Spastic Ataxia, Charlevoix-Saguenay Type

Search GEO for disease gene expression data for Spastic Ataxia, Charlevoix-Saguenay Type.

Pathways for Spastic Ataxia, Charlevoix-Saguenay Type

GO Terms for Spastic Ataxia, Charlevoix-Saguenay Type

Cellular components related to Spastic Ataxia, Charlevoix-Saguenay Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.33 SACS ATCAY ARHGEF15
2 cytoplasm GO:0005737 9.17 TTPA SETX SACS FXN ATCAY ARHGEF15
3 axon GO:0030424 9.13 SETX SACS ATCAY

Biological processes related to Spastic Ataxia, Charlevoix-Saguenay Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to hydrogen peroxide GO:0070301 8.96 SETX FXN
2 double-strand break repair GO:0006302 8.62 SETX APTX

Sources for Spastic Ataxia, Charlevoix-Saguenay Type

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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