SACS
MCID: SPS150
MIFTS: 58

Spastic Ataxia, Charlevoix-Saguenay Type (SACS)

Categories: Eye diseases, Genetic diseases, Nephrological 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 56 25 13 71
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay 56 24 52 25 58 73 36
Charlevoix-Saguenay Spastic Ataxia 56 12 52 25 29 6 15
Arsacs 56 24 52 25 58 73 54
Spastic Ataxia Charlevoix-Saguenay Type 52 73 43
Spax6 56 58 73
Sacs 56 52 73
Autosomal Recessive Spastic Ataxia Type 6 24 58
Spastic Ataxia 6, Autosomal Recessive 56 73
Spastic Ataxia of Charlevoix-Saguenay 52 25
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay; Arsacs 56
Spastic Ataxia 6, Autosomal Recessive; Spax6 56
Ataxia, Spastic, Charlevoix-Saguenay Type 39
Atx/hsp-Sacs 24

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Spastic Ataxia, Charlevoix-Saguenay Type, also known as autosomal recessive spastic ataxia of charlevoix-saguenay, is related to spinocerebellar ataxia, autosomal recessive 8 and spastic paraplegia 7, autosomal recessive, 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 Progesterone and Warfarin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, cerebellum and lung, and related phenotypes are mitral valve prolapse and dysarthria

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.

Genetics Home Reference : 25 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 : 56 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)

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 : 73 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 : 74 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 1068)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 8 31.7 SETX SACS
2 spastic paraplegia 7, autosomal recessive 31.4 TTPA SACS APTX
3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 31.4 SACS ATCAY APTX
4 lichtenstein-knorr syndrome 31.4 SACS ATCAY APTX
5 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 30.9 TTPA SACS ATCAY APTX
6 hereditary ataxia 30.8 TTPA SETX SACS FXN APTX
7 mitochondrial dna depletion syndrome 7 30.5 SACS FXN ATCAY APTX
8 peripheral nervous system disease 30.3 SETX SACS PES1 FXN APTX
9 vitamin e, familial isolated deficiency of 30.0 TTPA SETX SACS FXN APTX
10 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 30.0 TTPA SETX SACS FXN APTX
11 marinesco-sjogren syndrome 30.0 TTPA SACS FXN ATCAY APTX
12 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 30.0 TTPA SETX SACS FXN APTX
13 refsum disease, classic 30.0 TTPA SACS FXN ATCAY APTX
14 autosomal dominant cerebellar ataxia 30.0 TTPA SETX SACS FXN APTX
15 autosomal recessive cerebellar ataxia 29.8 TTPA SETX SACS PES1 FXN APTX
16 cerebellar ataxia, cayman type 29.3 TTPA ATCAY
17 cerebellar disease 28.7 TTPA SETX SACS PES1 FXN ATCAY
18 sensory peripheral neuropathy 28.4 PES1 FXN
19 dystonia 28.2 TTPA SETX ATCAY APTX
20 endolymphatic sac tumor 12.6
21 vaginal yolk sac tumor 12.6
22 testicular yolk sac tumor 12.5
23 yolk sac tumor of central nervous system 12.4
24 pineal region yolk sac tumor 12.4
25 endodermal sinus tumor 12.2
26 glandular pattern ovarian yolk sac tumor 12.2
27 macrocystic pattern testicular yolk sac tumor 12.2
28 solid pattern testicular yolk sac tumor 12.2
29 glandular-alveolar pattern testicular yolk sac tumor 12.2
30 myxomatous pattern testicular yolk sac tumor 12.2
31 papillary pattern testicular yolk sac tumor 12.2
32 enteric pattern testicular yolk sac tumor 12.2
33 reticular pattern testicular yolk sac tumor 12.2
34 stenosis of lacrimal sac 12.1
35 hepatoid pattern ovarian yolk sac tumor 12.1
36 polyvesicular vitelline pattern ovarian yolk sac tumor 12.1
37 endodermal sinus pattern testicular yolk sac tumor 12.1
38 polyvesicular vitelline pattern testicular yolk sac tumor 12.1
39 hepatoid pattern testicular yolk sac tumor 12.1
40 ovarian endodermal sinus tumor 12.1
41 testicular germ cell tumor 12.0
42 spastic ataxia 11.9
43 autosomal recessive spastic ataxia 11.8
44 neuropathy 11.8
45 pulmonary disease, chronic obstructive 11.7
46 von hippel-lindau syndrome 11.7
47 spasticity 11.7
48 childhood endodermal sinus tumor 11.7
49 cerebellar ataxia, early-onset, with retained tendon reflexes 11.7
50 dacryocystitis 11.7

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 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mitral valve prolapse 58 31 frequent (33%) Frequent (79-30%) HP:0001634
2 dysarthria 58 31 very rare (1%) Frequent (79-30%) HP:0001260
3 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
4 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
5 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
6 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
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 abnormal motor evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0012896
17 gaze-evoked horizontal nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0007979
18 abnormality of the pons 58 31 frequent (33%) Frequent (79-30%) HP:0007361
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 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
23 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
24 abnormality of the foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001760
25 gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002066
26 impaired vibratory sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002495
27 distal amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003693
28 intention tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002080
29 foot dorsiflexor weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009027
30 impaired tactile sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0010830
31 absent achilles reflex 58 31 occasional (7.5%) Occasional (29-5%) HP:0003438
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 muscle weakness 58 Frequent (79-30%)
45 abnormal pyramidal sign 58 Frequent (79-30%)
46 spasticity 58 Frequent (79-30%)
47 peripheral neuropathy 58 Frequent (79-30%)
48 hyperreflexia 31 HP:0001347
49 abnormal cerebellum morphology 58 Frequent (79-30%)
50 upper motor neuron dysfunction 31 HP:0002493

Symptoms via clinical synopsis from OMIM:

56
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

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

MGI Mouse Phenotypes related to Spastic Ataxia, Charlevoix-Saguenay Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.17 APTX ARHGEF15 ATCAY FXN PES1 SETX

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 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
2
Warfarin Approved Phase 4 81-81-2 6691 54678486
3
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
4
Coumarin Experimental Phase 4 91-64-5 323
5 Progestins Phase 4
6 Fenugreek Phase 4
7 Fenugreek seed meal Phase 4
8 Antineoplastic Agents, Hormonal Phase 4
9 Prolactin Release-Inhibiting Factors Phase 4
10 Triptorelin Pamoate Phase 4
11 Anticoagulants Phase 4
12 Coagulants Phase 4
13 Hormones Phase 4
14 Hormone Antagonists Phase 4
15 Respiratory System Agents Phase 4
16 glucocorticoids Phase 4
17 Anti-Asthmatic Agents Phase 4
18 Anti-Inflammatory Agents Phase 4
19
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
20
Lactitol Approved, Investigational Phase 3 585-88-6, 585-86-4 493591
21 Poractant alfa Approved Phase 3 129069-19-8
22 Estrogens Phase 3
23 Estrogen Antagonists Phase 3
24 Estrogen Receptor Antagonists Phase 3
25 Aromatase Inhibitors Phase 3
26 Pulmonary Surfactants Phase 3
27
Ganirelix Approved Phase 2 123246-29-7, 124904-93-4 25081094
28
Cetrorelix Approved, Investigational Phase 2 120287-85-6 16129715 25074887
29
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
30
Polyestradiol phosphate Approved Phase 2 28014-46-2
31 Hypoglycemic Agents Phase 2
32 insulin Phase 2
33 Insulin, Globin Zinc Phase 2
34 Fibrinolytic Agents Phase 2
35 Tissue Plasminogen Activator Phase 2
36 Plasminogen Phase 2
37 Chorionic Gonadotropin Phase 2
38 Follicle Stimulating Hormone Phase 2
39 Estradiol 17 beta-cypionate Phase 2
40 Estradiol 3-benzoate Phase 2
41
Pioglitazone Approved, Investigational Phase 1 111025-46-8 4829
42 Alpha 1-Antitrypsin Phase 1
43 Protein C Inhibitor Phase 1
44
Menotropins Approved 61489-71-2, 9002-68-0 5360545
45
Pentoxifylline Approved, Investigational 6493-05-6 4740
46
Formaldehyde Approved, Vet_approved 50-00-0 712
47
Dimenhydrinate Approved 523-87-5 441281
48 sodium fluoride Approved 7681-49-4
49
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
50
Titanium dioxide Approved 13463-67-7

Interventional clinical trials:

(show top 50) (show all 78)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Furocyst in Patients With Poly Cystic Ovary Syndrome Completed NCT02789488 Phase 4
2 Comparative Study Between Single Versus Dual Trigger for Poor Responders in GnRH-antagonist ICSI Cycles. A Randomized Controlled Study Completed NCT04008966 Phase 4 combined oral contaraceptive pills;recombinant FSH;Urinaru gonadotropin;GnRH antagonist;Human chorionic gonadotropin;GnRH agonist;natural Progesterone
3 a Randomized Clinical Trial Using Oral Anti Coagulant in the Management of Unexplained Oligohydramnios Completed NCT01569035 Phase 4 warfarin
4 Clinical Use of the Perifollicular Vascularity Assessment in in-Vitro Fertilization Cycles: a Pilot Study Completed NCT00458380 Phase 4
5 Randomized Trial on Efficacy and Safety of the Antenatal Rescue Course of Glucocorticoids in Threatened Premature Birth (ACG Trial) Terminated NCT00295464 Phase 4 Betamethasone sodium phos (drug)
6 Comparison of Different Methods for Luteal Phase Support in IVF / ICSI Cycles With Antagonist Protocol in Women With Poor Ovarian Response Unknown status NCT02798653 Phase 3 Choriomon® injection;Choriomon® injection+Endometrin ®;Endometrin ® vaginal tablets
7 Effect of Acupuncture Pre-treatment Combined With Letrozole on Live Birth in Infertile Women With Polycystic Ovary Syndrome Unknown status NCT02491320 Phase 3 Letrozole
8 Comparison of Micro Dose Gonadotropin-Releasing Hormone (GnRH) Agonist Flare up & Flare Protocol in Poor Responders in Assisted Reproductive Technology (ART) Cycle Completed NCT01006954 Phase 3 Microdose GnRh;Flare up
9 A Randomized, Controlled, Partially Double-blinded, Phase 3, Multi-center Trial to Determine if Curosurf® Reduces the Duration of Mechanical Ventilation in Infants 24+0 to 31+6 Weeks Gestational Age Completed NCT01709409 Phase 3 Curosurf-Group1;BLES-group 2
10 Sildenafil Trial of Exercise Performance in Idiopathic Pulmonary Fibrosis Completed NCT00517933 Phase 3 Sildenafil Citrate
11 Evaluation of the Role of Vaginal Progesterone in Prevention of Preterm Labor in Twin Gestation With Short Cervix: Randomised Controlled Trial Completed NCT02697331 Phase 3 Progesterone
12 A Feasibility and Safety Study of Bronchoscopic Intrabullous Autologous Blood Instillation for the Treatment of Severe Bullous Emphysema (BIABI Study) Unknown status NCT01727037 Phase 2
13 Embryo Transfer: Embryo Expulsion and Outcome Completed NCT00905788 Phase 1, Phase 2
14 A Randomised, Assessor-blind, Parallel Groups, Multi-centre, Exploratory Study Assessing the Impact of Subcutaneous Administration of Degarelix 2.5 mg on Synchronisation of Follicle Cohort Compared to Placebo and Evaluating the Effects of Degarelix 2.5 mg Started in the Mid-luteal or Early Follicular Phase on Endometrial Receptivity Compared to a Fixed Gonadotrophin Releasing Hormone Antagonist Protocol in Oocyte Donors Undergoing Controlled Ovarian Hyperstimulation for Assisted Reproductive Technologies Completed NCT00434122 Phase 2 Degarelix mid-luteal, 2.5 mg;Placebo
15 Sildenafil Treatment in Patients With Idiopathic Pulmonary Fibrosis and Pulmonary Hypertension - a Pilot Cross-over Study Completed NCT00352482 Phase 2 Sildenafil (50 mg)
16 Phase II Clinical Trial of Two Approaches to High Frequency Oscillatory Ventilation in Acute Respiratory Distress Syndrome Completed NCT00399581 Phase 2
17 Early Insulin Therapy and Development of Acute Respiratory Distress Syndrome Completed NCT00605696 Phase 2 Insulin
18 A Pilot, Open Label, Phase II Clinical Trial of Nebulised Recombinant Tissue-Plasminogen Activator (Rt-PA) Recruiting NCT04356833 Phase 2 nebulised recombinant tissue-Plasminogen Activator (rt-PA)
19 Exploratory Study to Determine the Effect of Lutropin Alfa on Embryo Quality and Their Implantation in Women of Advanced Reproductive Age Terminated NCT01075815 Phase 2 Recombinant human luteinizing hormone (rhLH);Recombinant follicle-stimulating hormone (rFSH)
20 Lutropin Alfa (Luveris®) in Mid Follicular Phase for Controlled Ovarian Stimulation (COS) in Advanced Reproductive Age: Phase II Clinical Trial Terminated NCT01079949 Phase 2 r-hLH + r-hFSH;r-hFSH;Recombinant Human Choriogonadotropin (r-hCG);GnRH antagonist
21 Efficacy of Bevacizumab in Preventing Acute Respiratory Distress Syndrome (ARDS) Withdrawn NCT01314066 Phase 2 Bevacizumab;Placebo
22 Preclinical & Phase I/II Trials of AAV-AAT Vectors: Phase I Trial of Intramuscular Injection of a Recombinant Adeno-Associated Virus Alpha 1-Antitrypsin (rAAV1-CB-hAAT) Gene Vector to AAT-Deficient Adults Completed NCT00430768 Phase 1
23 Injection of Day 2 Embryo Culture Supernatant Into the Uterine Cavity Didn't Improve Implantation and Pregnancy Rates of Day 3 Embryo Transfer: a Randomized Clinical Trial in Patients Who Underwent in Vitro Fertilization- Embryo Transfer. Completed NCT00730496 Phase 1
24 First in Human Study of Pioglitazone Therapy of Autoimmune Pulmonary Alveolar Proteinosis Completed NCT03231033 Phase 1 Pioglitazone
25 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
26 Phase 1 - Pilot Study to Validate the Simple Acute Coronary Syndrome Score; an Acute Coronary Syndrome (ACS) Risk Stratification Tool Unknown status NCT00947804
27 The Impact of Overweight and Obesity on Reproductive Outcomes in Poor Ovarian Responders in ICSI Cycles Unknown status NCT03457233 Gonadotropins;GNRH antagonist;Human chorionic gonadotropin Chorimon;Natural progesterone
28 Targeted Genomic Analysis of Coagulation Pathways in Acute Lung Injury Unknown status NCT00605527
29 Effect of Vitamin D Status on Clinical Pregnancy Rates Following Intra Cytoplasmic Sperm Injection Unknown status NCT02987478
30 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations , With and Without Airflow Obstruction Unknown status NCT02458703
31 Hypoxemia, Dyspnea, and Exercise Tolerance in Patients With Pulmonary Arteriovenous Malformations Unknown status NCT02436213
32 Improving Ventilator Management and Preventing Injury to Patients With Acute Respiratory Failure Unknown status NCT00542737
33 Prospective Randomized Controlled Trial Comparing Two Different Embryo Transfer (ET) Catheters Unknown status NCT03161119
34 The Expression of IL-15 and Its Receptor in Uterine NK Cells and Clinical Applications Unknown status NCT00173758
35 Specialized Center of Clinically Oriented Research: Alveolar and Airway Mechanisms for COPD. Detection: Lung Imaging and Profiling (Project 1) Completed NCT00756522
36 Genetic Analysis of Gray Platelet Syndrome Completed NCT00069680
37 Beneficial Effect of Adding Pentoxifylline to Processed Semen Samples on ICSI Outcome in Infertile Males With Mild and Moderate Asthenozoospermia: Randomized Controlled Prospective Crossover Study Completed NCT01793272
38 Safety and Feasibility of the ElastiMed's SACS - Smart Active Compression Stocking Completed NCT03330925
39 Routine Pathological Examination of Hernia Sac; Is it a Workload or Necessary? Completed NCT04383249
40 Idiopathic Pulmonary Fibrosis Job Exposures Study Completed NCT03211507
41 The Effect of Water Loading on Urinary Biomarkers Completed NCT00784030
42 Evaluation of Serum Anti-Mullerian Hormone (AMH) and Inhibin B Levels as Early Predictors of a Successful IVF Cycle in Women Over 38 Years Old. Completed NCT01219387
43 Factors Affecting Success of IUI in Women With Unexplained Infertility Completed NCT02787811
44 Self Care for Older Persons in Singapore: An Intervention Study Completed NCT01672177
45 Abdominal Hernia in Cirrhotic Patients: Surgery or Conservative Treatment? Completed NCT02787772
46 IS Three d Power Doppler of the Endometrial and Subendometrial Regions Effective? Completed NCT04081870
47 Phase II Study of Broncho-Alveoscopy Using Fibered Confocal Fluorescence Microscopy Completed NCT00377338
48 Specialized Center of Clinically Oriented Research: Alveolar and Airway Mechanisms of COPD. Airway Determinants: Innate Immune Signaling (Project 4) Completed NCT00740337
49 The Inflammatory and Antioxidant Status in Pulmonary Sarcoidosis, Idiopathic Pulmonary Fibrosis and COPD: a Potential Role for Antioxidants Completed NCT00512967
50 Preclinical & Phase I/II Trials of AAV-AAT Vectors: Phase I Trial of Intramuscular Injection of a Recombinant Adeno-Associated Virus Alpha 1-Antitrypsin (rAAV2-CB-hAAT) Gene Vector to AAT-Deficient Adults Completed NCT00377416 Early Phase 1

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
Spinal Cord, Cerebellum, Lung, Eye, Retina, Ovary, Heart

Publications for Spastic Ataxia, Charlevoix-Saguenay Type

Articles related to Spastic Ataxia, Charlevoix-Saguenay Type:

(show top 50) (show all 78)
# Title Authors PMID Year
1
Identification of a SACS gene missense mutation in ARSACS. 54 56 24 6
14718708 2004
2
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. 6 56 24 54
10655055 2000
3
A phenotype without spasticity in sacsin-related ataxia. 56 24 6
15985586 2005
4
Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. 56 6 54
12873855 2003
5
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. 54 24 56
18398442 2008
6
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. 54 24 56
18465152 2008
7
A novel mutation in SACS gene in a family from southern Italy. 56 6
14718706 2004
8
Mutations in SACS cause atypical and late-onset forms of ARSACS. 56 24
20876471 2010
9
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. 24 56
10053011 1999
10
Autosomal recessive spastic ataxia of Charlevoix-Saguenay. 24 56
647499 1978
11
Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family. 54 56
18569450 2008
12
Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon. 54 6
16606928 2006
13
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. 56 54
14718707 2004
14
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. 56
27133561 2016
15
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 56
25401298 2015
16
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 6
24418350 2014
17
Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay. 54 24
17683082 2008
18
ARSACS 6
20301432 2003
19
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. 56
10751248 2000
20
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11. 6
10610707 1999
21
Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome? 56
10323731 1999
22
Autosomal recessive disorders in Saguenay-Lac-Saint-Jean (Quebec, Canada): a study of inbreeding. 56
8835098 1996
23
Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome. 56
8014978 1994
24
Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. 56
8472930 1993
25
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). 56
1937486 1991
26
Spastic paraplegia associated with brachydactyly and cone shaped epiphyses. 56
3430547 1987
27
Electromyography and nerve conduction studies in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 56
487308 1979
28
Electroencephalographic findings in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 56
487309 1979
29
Computed tomography of posterior fossa in hereditary ataxias. 56
487310 1979
30
ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India. 24
30963395 2019
31
Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS. 24
30840144 2019
32
Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS. 24
30638817 2019
33
Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 24
30901567 2019
34
Sacs R272C missense homozygous mice develop an ataxia phenotype. 24
30866998 2019
35
Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics. 24
30332300 2019
36
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. 24
30460542 2018
37
Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 24
29968200 2018
38
Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS. 24
29928778 2018
39
The genetic nomenclature of recessive cerebellar ataxias. 24
29756227 2018
40
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay. 24
29538656 2018
41
A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American. 24
30498468 2018
42
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin. 24
28535259 2017
43
Individualized exergame training improves postural control in advanced degenerative spinocerebellar ataxia: A rater-blinded, intra-individually controlled trial. 24
28365204 2017
44
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
45
Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways. 24
28195350 2017
46
Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities. 24
27871429 2016
47
Progressive myoclonus epilepsy associated with SACS gene mutations. 24
27433545 2016
48
A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient. 24
26944128 2016
49
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 24
26288984 2015
50
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. 24
25260547 2015

Variations for Spastic Ataxia, Charlevoix-Saguenay Type

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

6 (show top 50) (show all 581) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SACS NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg)SNV Affects 619025 rs773588375 13:23906914-23906914 13:23332775-23332775
2 SACS NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser)SNV Pathogenic 623376 rs1566054340 13:23904561-23904561 13:23330422-23330422
3 SACS NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile)SNV Pathogenic 623395 rs1566069517 13:23913912-23913912 13:23339773-23339773
4 SACS NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp)SNV Pathogenic 623396 rs1566071225 13:23914960-23914960 13:23340821-23340821
5 SACS NM_014363.6(SACS):c.11633_11634AG[2] (p.Arg3879fs)short repeat Pathogenic 689784 13:23906377-23906378 13:23332238-23332239
6 SACS NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter)SNV Pathogenic 689782 13:23911581-23911581 13:23337442-23337442
7 SACS NM_014363.6(SACS):c.2938_2939del (p.Met980fs)deletion Pathogenic 689783 13:23915076-23915077 13:23340937-23340938
8 SACS NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter)SNV Pathogenic 802912 13:23906074-23906074 13:23331935-23331935
9 SACS NM_014363.6(SACS):c.8844del (p.Ile2949fs)deletion Pathogenic 5512 rs281865117 13:23909171-23909171 13:23335032-23335032
10 SACS NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)SNV Pathogenic 5513 rs281865118 13:23910511-23910511 13:23336372-23336372
11 SACS NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro)SNV Pathogenic 5514 rs137853016 13:23905795-23905795 13:23331656-23331656
12 SACS SACS, 1-BP DEL, 1411Tdeletion Pathogenic 5515
13 SACS SACS, 1-BP INS, 1155Ainsertion Pathogenic 5516
14 SACS NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg)SNV Pathogenic 5517 rs137853017 13:23912179-23912179 13:23338040-23338040
15 SACS NM_014363.6(SACS):c.4033dup (p.Gln1345fs)duplication Pathogenic 5518 rs606231163 13:23913981-23913982 13:23339842-23339843
16 SACS NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg)SNV Pathogenic 5519 rs137853018 13:23908273-23908273 13:23334134-23334134
17 SACS NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser)SNV Pathogenic 5520 rs137853019 13:23914854-23914854 13:23340715-23340715
18 SACS SACS, 10-BP DEL, NT32627deletion Pathogenic 5521
19 SACS SACS, 1-BP DEL, 31760Tdeletion Pathogenic 5522
20 SACS NM_014363.6(SACS):c.13527dup (p.Glu4510fs)duplication Pathogenic 212110 rs797045936 13:23904487-23904488 13:23330348-23330349
21 SACS NM_014363.6(SACS):c.1917_1918AC[1] (p.His640fs)short repeat Pathogenic 212111 rs797045937 13:23928831-23928832 13:23354692-23354693
22 SACS NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)SNV Pathogenic 280094 rs202199411 13:23908507-23908507 13:23334368-23334368
23 SACS NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)SNV Pathogenic 280809 rs886041949 13:23908710-23908710 13:23334571-23334571
24 SACS NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs)deletion Pathogenic 280236 rs757872635 13:23913135-23913138 13:23338996-23338999
25 SACS NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)SNV Pathogenic 370283 rs565203731 13:23906641-23906641 13:23332502-23332502
26 SACS NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)SNV Pathogenic 370415 rs145766983 13:23910742-23910742 13:23336603-23336603
27 SACS NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)SNV Pathogenic 371484 rs1057517311 13:23912890-23912890 13:23338751-23338751
28 SACS NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)SNV Pathogenic 450250 rs867249938 13:23913783-23913783 13:23339644-23339644
29 SACS NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter)SNV Pathogenic 522647 rs1360298758 13:23907202-23907202 13:23333063-23333063
30 SACS NM_014363.6(SACS):c.10644del (p.Phe3548fs)deletion Pathogenic 522626 rs1555250160 13:23907371-23907371 13:23333232-23333232
31 SACS NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter)SNV Pathogenic 522627 rs1555252345 13:23913430-23913430 13:23339291-23339291
32 SACS NM_014363.6(SACS):c.2903_2906del (p.Asp968fs)deletion Pathogenic 549687 rs1259615333 13:23915109-23915112 13:23340970-23340973
33 SACS NM_014363.6(SACS):c.6172del (p.Ser2058fs)deletion Pathogenic 552153 rs1214399996 13:23911843-23911843 13:23337704-23337704
34 SACS NM_014363.6(SACS):c.961C>T (p.Arg321Ter)SNV Pathogenic 555502 rs1175545518 13:23929790-23929790 13:23355651-23355651
35 SACS NM_014363.6(SACS):c.11263_11264AT[1] (p.Ile3755fs)short repeat Pathogenic 550274 rs1400601705 13:23906749-23906750 13:23332610-23332611
36 SACS NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)SNV Pathogenic 556270 rs766711286 13:23911660-23911660 13:23337521-23337521
37 SACS NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)SNV Pathogenic 556533 rs1485209013 13:23912296-23912296 13:23338157-23338157
38 SACS NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs)deletion Pathogenic 559869 rs1555251822 13:23911674-23911677 13:23337535-23337538
39 SACS NM_014363.6(SACS):c.262C>T (p.Arg88Ter)SNV Pathogenic 559870 rs1555255676 13:23942624-23942624 13:23368485-23368485
40 SACS NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs)deletion Pathogenic/Likely pathogenic 557443 rs1555250082 13:23907192-23907193 13:23333053-23333054
41 SACS NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)SNV Pathogenic/Likely pathogenic 458265 rs1160357920 13:23913271-23913271 13:23339132-23339132
42 SACS NM_014363.6(SACS):c.8793del (p.Lys2931fs)deletion Pathogenic/Likely pathogenic 449517 rs767871841 13:23909222-23909222 13:23335083-23335083
43 SACS NM_014363.6(SACS):c.5063_5064AG[1] (p.Ser1689fs)short repeat Pathogenic/Likely pathogenic 496950 rs1372213267 13:23912949-23912950 13:23338810-23338811
44 SACS NM_014363.6(SACS):c.7139del (p.Asn2380fs)deletion Pathogenic/Likely pathogenic 370689 rs1057516689 13:23910876-23910876 13:23336737-23336737
45 SACS NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)SNV Pathogenic/Likely pathogenic 371410 rs1057517250 13:23907879-23907879 13:23333740-23333740
46 SACS NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)SNV Pathogenic/Likely pathogenic 280095 rs752059006 13:23927927-23927927 13:23353788-23353788
47 SACS NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs)deletion Pathogenic/Likely pathogenic 228394 rs876657721 13:23909472-23909473 13:23335333-23335334
48 SACS NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)SNV Pathogenic/Likely pathogenic 189175 rs786204750 13:23910739-23910739 13:23336600-23336600
49 SACS NM_014363.6(SACS):c.2439_2440del (p.Val815fs)deletion Pathogenic/Likely pathogenic 188856 rs775059063 13:23915575-23915576 13:23341436-23341437
50 SACS NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)SNV Pathogenic/Likely pathogenic 212108 rs780247476 13:23907109-23907109 13:23332970-23332970

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

73 (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

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 9.13 SACS ATCAY ARHGEF15
2 axon GO:0030424 8.8 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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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43 MeSH
44 MESH via Orphanet
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63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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