MCID: SPS150
MIFTS: 50

Spastic Ataxia, Charlevoix-Saguenay Type

Categories: Genetic diseases, Rare diseases, Neuronal 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 25 13 73
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay 57 24 53 25 59 75 37
Arsacs 57 24 53 25 59 75 55
Charlevoix-Saguenay Spastic Ataxia 57 12 53 25 15
Spastic Ataxia Charlevoix-Saguenay Type 53 75 29 6
Spastic Ataxia of Charlevoix-Saguenay 24 53 25
Spax6 57 59 75
Sacs 57 53 75
Spastic Ataxia 6, Autosomal Recessive 57 75
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay; Arsacs 57
Spastic Ataxia 6, Autosomal Recessive; Spax6 57
Autosomal Recessive Spastic Ataxia Type 6 59
Ataxia, Spastic, Charlevoix-Saguenay Type 40

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic ataxia of charlevoix-saguenay
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
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:

32
spastic ataxia, charlevoix-saguenay type:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Ataxia, Charlevoix-Saguenay Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98Disease definitionAutosomal 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.EpidemiologyIt 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 descriptionThe 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.EtiologyARSACS is caused by autosomal recessive mutations in the SACS gene (13q11), which encodes a large protein of unknown function named sacsin.Diagnostic methodsClinical 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 diagnosisDifferential 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 diagnosisPrenatal diagnosis is possible when the disease-causing mutation has been identified and genetic counselling should be offered to affected families.Management and treatmentTreatment is symptomatic aiming towards controlling the spasticity and should include physiotherapy, pharmacotherapy and use of ankle-foot orthoses.PrognosisMost 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 spastic ataxia and spinocerebellar ataxia 31, and has symptoms including muscle spasticity, urgency of micturition and scanning speech. An important gene associated with Spastic Ataxia, Charlevoix-Saguenay Type is SACS (Sacsin Molecular Chaperone). Affiliated tissues include heart, eye and spinal cord, and related phenotypes are spasticity and dysarthria

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)

UniProtKB/Swiss-Prot : 75 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.

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), difficulty coordinating movements (ataxia), muscle wasting (amyotrophy), involuntary eye movements (nystagmus), and speech difficulties (dysarthria). Other problems may include deformities of the fingers and feet, reduced sensation and weakness in the arms and legs (peripheral neuropathy), yellow streaks of fatty tissue in the light-sensitive tissue at the back of the eye (hypermyelination of the retina), and less commonly, leaks in one of the valves that control blood flow through the heart (mitral valve prolapse). An unsteady gait is the first symptom of ARSACS. It usually appears between the age of 12 months and 18 months, as toddlers are learning to walk. The signs and symptoms worsen over the years, with increased spasticity and ataxia of the arms and legs. In some cases spasticity disappears, but this apparent improvement is thought to be due to degeneration of nerves in the arms and legs. Most affected individuals require a wheelchair by the time they are in their thirties or forties.

Wikipedia : 76 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 403)
# Related Disease Score Top Affiliating Genes
1 spastic ataxia 32.9 SACS SGCG
2 spinocerebellar ataxia 31 31.8 SACS SETX
3 refsum disease, classic 31.7 SACS TTPA
4 cerebellar disease 31.2 APTX SACS SETX
5 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 30.4 APTX SACS SETX TTPA
6 vitamin e, familial isolated deficiency of 29.5 APTX FXN SACS SETX TTPA
7 spinocerebellar ataxia, autosomal recessive 1 29.5 APTX FXN SACS SETX TTPA
8 aceruloplasminemia 29.2 APTX FXN SACS SETX TTPA
9 endolymphatic sac tumor 12.2
10 testicular yolk sac tumor 12.1
11 vaginal yolk sac tumor 12.1
12 yolk sac tumor of central nervous system 12.0
13 endodermal sinus tumor 11.9
14 pineal region yolk sac tumor 11.9
15 glandular pattern ovarian yolk sac tumor 11.9
16 macrocystic pattern testicular yolk sac tumor 11.9
17 solid pattern testicular yolk sac tumor 11.9
18 glandular-alveolar pattern testicular yolk sac tumor 11.9
19 myxomatous pattern testicular yolk sac tumor 11.9
20 papillary pattern testicular yolk sac tumor 11.9
21 enteric pattern testicular yolk sac tumor 11.9
22 reticular pattern testicular yolk sac tumor 11.9
23 stenosis of lacrimal sac 11.8
24 hepatoid pattern ovarian yolk sac tumor 11.8
25 polyvesicular vitelline pattern ovarian yolk sac tumor 11.8
26 endodermal sinus pattern testicular yolk sac tumor 11.8
27 polyvesicular vitelline pattern testicular yolk sac tumor 11.8
28 hepatoid pattern testicular yolk sac tumor 11.8
29 testicular germ cell tumor 11.6
30 spasticity 11.5
31 dacryocystitis 11.3
32 encephalocele 11.3
33 von hippel-lindau syndrome 11.2
34 cardiac tamponade 11.2
35 meningoencephalocele 11.2
36 tarlov cysts 11.2
37 omphalocele 11.2
38 hemopericardium 11.2
39 enterocele 11.2
40 benign mesothelioma 11.2
41 ovarian cyst 11.2
42 polyhydramnios 11.2
43 agenesis of the corpus callosum with peripheral neuropathy 11.1
44 hereditary spastic paraplegia 11.1
45 mucoepidermoid carcinoma 11.1
46 myelomeningocele 11.0
47 lacrimal duct defect 11.0
48 neural tube defects 11.0
49 meningocele 11.0
50 cystic lymphangioma 11.0

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
impaired smooth pursuit
retinal striation
hypermyelinated retinal fibers

Skeletal Feet:
pes cavus
hammertoes

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

Muscle Soft Tissue:
distal muscle weakness due to peripheral neuropathy

Neurologic Central Nervous System:
spasticity
dysarthria
hyperreflexia
dysmetria
cerebellar vermis atrophy
more
Genitourinary Bladder:
urinary urgency

Skeletal Hands:
swan neck-like deformities of the fingers


Clinical features from OMIM:

270550

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

59 32 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 59 32 Frequent (79-30%) HP:0001257
2 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
3 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
4 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
5 gait ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002066
6 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
7 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
8 abnormality of the foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001760
9 intention tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002080
10 mitral valve prolapse 59 32 frequent (33%) Frequent (79-30%) HP:0001634
11 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
12 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
13 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
14 sensorimotor neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007141
15 lower limb spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0002061
16 foot dorsiflexor weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0009027
17 urinary incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0000020
18 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
19 impotence 59 32 very rare (1%) Very rare (<4-1%) HP:0000802
20 cerebellar vermis hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001320
21 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
22 demyelinating peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007108
23 abnormality of the pons 59 32 frequent (33%) Frequent (79-30%) HP:0007361
24 hypermyelinated retinal nerve fibers 59 32 frequent (33%) Frequent (79-30%) HP:0007922
25 gaze-evoked horizontal nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0007979
26 abnormality of the cerebellar peduncle 59 32 frequent (33%) Frequent (79-30%) HP:0011931
27 parietal cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0012104
28 abnormal motor evoked potentials 59 32 frequent (33%) Frequent (79-30%) HP:0012896
29 arachnoid cyst 59 32 frequent (33%) Frequent (79-30%) HP:0100702
30 impaired vibratory sensation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002495
31 absent achilles reflex 59 32 occasional (7.5%) Occasional (29-5%) HP:0003438
32 distal amyotrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003693
33 impaired tactile sensation 59 32 occasional (7.5%) Occasional (29-5%) HP:0010830
34 nystagmus 32 HP:0000639
35 intellectual disability 32 HP:0001249
36 ataxia 59 Frequent (79-30%)
37 muscle weakness 59 Frequent (79-30%)
38 hyperreflexia 32 HP:0001347
39 abnormal pyramidal signs 59 Frequent (79-30%)
40 peripheral neuropathy 59 Frequent (79-30%)
41 pes cavus 32 HP:0001761
42 falls 32 HP:0002527
43 decreased motor nerve conduction velocity 32 HP:0003431
44 abnormality of the cerebellum 59 Frequent (79-30%)
45 cerebellar vermis atrophy 32 HP:0006855
46 impaired vibration sensation in the lower limbs 32 HP:0002166
47 hammertoe 32 HP:0001765
48 distal muscle weakness 32 HP:0002460
49 scanning speech 32 HP:0002168
50 progressive gait ataxia 32 HP:0007240

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


muscle spasticity, urgency of micturition, scanning speech

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.47 SACS
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.47 SACS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.47 SACS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.47 SACS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.47 SACS
6 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.47 SACS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.47 SACS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.47 FXN SACS TTPA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.47 SACS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.47 TTPA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.47 FXN
12 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.47 SACS

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.1 APTX FAH FXN SETX SGCG ST8SIA2

Drugs & Therapeutics for Spastic Ataxia, Charlevoix-Saguenay Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for 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 Spastic Ataxia Charlevoix-Saguenay Type 29 SACS

Anatomical Context for Spastic Ataxia, Charlevoix-Saguenay Type

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

41
Heart, Eye, Spinal Cord, Retina, Cerebellum, Pons, Brain

Publications for Spastic Ataxia, Charlevoix-Saguenay Type

Articles related to Spastic Ataxia, Charlevoix-Saguenay Type:

(show top 50) (show all 52)
# Title Authors Year
1
Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures. ( 29801904 )
2018
2
Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 29968200 )
2018
3
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 29538656 )
2018
4
Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Typical MRI findings. ( 29610238 )
2018
5
Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 29462597 )
2018
6
A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 28658676 )
2017
7
Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study. ( 28870592 )
2017
8
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil. ( 28658401 )
2017
9
Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 28588446 )
2017
10
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations. ( 28843771 )
2017
11
Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 29075231 )
2017
12
Foveal hypoplasia in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26917082 )
2016
13
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family. ( 27980752 )
2016
14
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay. ( 27288452 )
2016
15
Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26344561 )
2015
16
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26288984 )
2015
17
Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient. ( 26142023 )
2015
18
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26530509 )
2015
19
A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 26153042 )
2015
20
Retinal and Pontine Striations: Neurodiagnostic Signs of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 25237835 )
2014
21
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 25260547 )
2014
22
Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 23598833 )
2013
23
Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 23785480 )
2013
24
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. ( 23699708 )
2013
25
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. ( 23497566 )
2013
26
Autosomal recessive spastic ataxia of charlevoix-saguenay in the time of next-generation sequencing. ( 23229046 )
2012
27
Autosomal recessive spastic ataxia of charlevoix-saguenay in the time of next-generation sequencing-reply. ( 23229047 )
2012
28
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 22307627 )
2012
29
Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 22209141 )
2012
30
A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 22892508 )
2012
31
Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs. ( 22441213 )
2012
32
Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 21597885 )
2011
33
Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 21507954 )
2011
34
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene. ( 21745802 )
2011
35
Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 21410841 )
2011
36
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. ( 21450511 )
2011
37
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family. ( 21625752 )
2011
38
Autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 19451537 )
2009
39
[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature]. ( 18439928 )
2008
40
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene. ( 18484239 )
2008
41
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients. ( 17846221 )
2007
42
A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 16421146 )
2006
43
Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. ( 15156359 )
2004
44
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. ( 14718707 )
2004
45
Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 11788093 )
2001
46
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11. ( 10610707 )
1999
47
Orthopedic management in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 10593245 )
1999
48
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. ( 10053011 )
1999
49
Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 8421971 )
1993
50
Electroencephalographic findings in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 487309 )
1979

Variations for Spastic Ataxia, Charlevoix-Saguenay Type

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

75 (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

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

6
(show top 50) (show all 476)
# Gene Variation Type Significance SNP ID Assembly Location
1 SACS NM_014363.5(SACS): c.8844delT (p.Ile2949Phefs) deletion Pathogenic rs281865117 GRCh37 Chromosome 13, 23909171: 23909171
2 SACS NM_014363.5(SACS): c.8844delT (p.Ile2949Phefs) deletion Pathogenic rs281865117 GRCh38 Chromosome 13, 23335032: 23335032
3 SACS NM_014363.5(SACS): c.7504C> T (p.Arg2502Ter) single nucleotide variant Pathogenic rs281865118 GRCh37 Chromosome 13, 23910511: 23910511
4 SACS NM_014363.5(SACS): c.7504C> T (p.Arg2502Ter) single nucleotide variant Pathogenic rs281865118 GRCh38 Chromosome 13, 23336372: 23336372
5 SACS NM_014363.5(SACS): c.12220G> C (p.Ala4074Pro) single nucleotide variant Pathogenic rs137853016 GRCh37 Chromosome 13, 23905795: 23905795
6 SACS NM_014363.5(SACS): c.12220G> C (p.Ala4074Pro) single nucleotide variant Pathogenic rs137853016 GRCh38 Chromosome 13, 23331656: 23331656
7 SACS SACS, 1-BP DEL, 1411T deletion Pathogenic
8 SACS SACS, 1-BP INS, 1155A insertion Pathogenic
9 SACS NM_014363.5(SACS): c.5836T> C (p.Trp1946Arg) single nucleotide variant Pathogenic rs137853017 GRCh37 Chromosome 13, 23912179: 23912179
10 SACS NM_014363.5(SACS): c.5836T> C (p.Trp1946Arg) single nucleotide variant Pathogenic rs137853017 GRCh38 Chromosome 13, 23338040: 23338040
11 SACS NM_014363.5(SACS): c.4033dupC (p.Gln1345Profs) duplication Pathogenic rs606231163 GRCh38 Chromosome 13, 23339843: 23339843
12 SACS NM_014363.5(SACS): c.4033dupC (p.Gln1345Profs) duplication Pathogenic rs606231163 GRCh37 Chromosome 13, 23913982: 23913982
13 SACS NM_014363.5(SACS): c.9742T> C (p.Trp3248Arg) single nucleotide variant Pathogenic rs137853018 GRCh37 Chromosome 13, 23908273: 23908273
14 SACS NM_014363.5(SACS): c.9742T> C (p.Trp3248Arg) single nucleotide variant Pathogenic rs137853018 GRCh38 Chromosome 13, 23334134: 23334134
15 SACS NM_014363.5(SACS): c.3161T> C (p.Phe1054Ser) single nucleotide variant Pathogenic rs137853019 GRCh37 Chromosome 13, 23914854: 23914854
16 SACS NM_014363.5(SACS): c.3161T> C (p.Phe1054Ser) single nucleotide variant Pathogenic rs137853019 GRCh38 Chromosome 13, 23340715: 23340715
17 SACS SACS, 10-BP DEL, NT32627 deletion Pathogenic
18 SACS SACS, 1-BP DEL, 31760T deletion Pathogenic
19 SACS NM_014363.5(SACS): c.10907G> A (p.Arg3636Gln) single nucleotide variant Pathogenic rs281865119 GRCh37 Chromosome 13, 23907108: 23907108
20 SACS NM_014363.5(SACS): c.10907G> A (p.Arg3636Gln) single nucleotide variant Pathogenic rs281865119 GRCh38 Chromosome 13, 23332969: 23332969
21 SACS NM_014363.5(SACS): c.12160C> T (p.Gln4054Ter) single nucleotide variant Pathogenic rs281865120 GRCh37 Chromosome 13, 23905855: 23905855
22 SACS NM_014363.5(SACS): c.12160C> T (p.Gln4054Ter) single nucleotide variant Pathogenic rs281865120 GRCh38 Chromosome 13, 23331716: 23331716
23 SACS; SGCG NM_000231.2(SGCG): c.860G= (p.Ser287=) single nucleotide variant Benign rs1800354 GRCh37 Chromosome 13, 23898664: 23898664
24 SACS; SGCG NM_000231.2(SGCG): c.860G= (p.Ser287=) single nucleotide variant Benign rs1800354 GRCh38 Chromosome 13, 23324525: 23324525
25 SACS NM_014363.5(SACS): c.3589T> C (p.Ser1197Pro) single nucleotide variant Likely pathogenic rs727503785 GRCh37 Chromosome 13, 23914426: 23914426
26 SACS NM_014363.5(SACS): c.3589T> C (p.Ser1197Pro) single nucleotide variant Likely pathogenic rs727503785 GRCh38 Chromosome 13, 23340287: 23340287
27 SACS NM_014363.5(SACS): c.12973C> T (p.Arg4325Ter) single nucleotide variant Likely pathogenic rs762947018 GRCh38 Chromosome 13, 23330903: 23330903
28 SACS NM_014363.5(SACS): c.12973C> T (p.Arg4325Ter) single nucleotide variant Likely pathogenic rs762947018 GRCh37 Chromosome 13, 23905042: 23905042
29 SACS NM_014363.5(SACS): c.12851_12854delAGAG (p.Glu4284Alafs) deletion Likely pathogenic rs786204628 GRCh38 Chromosome 13, 23331022: 23331025
30 SACS NM_014363.5(SACS): c.12851_12854delAGAG (p.Glu4284Alafs) deletion Likely pathogenic rs786204628 GRCh37 Chromosome 13, 23905161: 23905164
31 SACS NM_014363.5(SACS): c.12232C> T (p.Arg4078Ter) single nucleotide variant Likely pathogenic rs141315518 GRCh37 Chromosome 13, 23905783: 23905783
32 SACS NM_014363.5(SACS): c.12232C> T (p.Arg4078Ter) single nucleotide variant Likely pathogenic rs141315518 GRCh38 Chromosome 13, 23331644: 23331644
33 SACS NM_014363.5(SACS): c.10466_10467delCT (p.Ser3489Leufs) deletion Likely pathogenic rs786204416 GRCh38 Chromosome 13, 23333409: 23333410
34 SACS NM_014363.5(SACS): c.10466_10467delCT (p.Ser3489Leufs) deletion Likely pathogenic rs786204416 GRCh37 Chromosome 13, 23907548: 23907549
35 SACS NM_014363.5(SACS): c.7276C> T (p.Arg2426Ter) single nucleotide variant Likely pathogenic rs786204750 GRCh38 Chromosome 13, 23336600: 23336600
36 SACS NM_014363.5(SACS): c.7276C> T (p.Arg2426Ter) single nucleotide variant Likely pathogenic rs786204750 GRCh37 Chromosome 13, 23910739: 23910739
37 SACS NM_014363.5(SACS): c.3328dupA (p.Ile1110Asnfs) duplication Likely pathogenic rs773840580 GRCh37 Chromosome 13, 23914687: 23914687
38 SACS NM_014363.5(SACS): c.3328dupA (p.Ile1110Asnfs) duplication Likely pathogenic rs773840580 GRCh38 Chromosome 13, 23340548: 23340548
39 SACS NM_014363.5(SACS): c.2439_2440delAT (p.Val815Glyfs) deletion Likely pathogenic rs775059063 GRCh37 Chromosome 13, 23915575: 23915576
40 SACS NM_014363.5(SACS): c.2439_2440delAT (p.Val815Glyfs) deletion Likely pathogenic rs775059063 GRCh38 Chromosome 13, 23341436: 23341437
41 SACS NM_014363.5(SACS): c.4076T> C (p.Met1359Thr) single nucleotide variant Uncertain significance rs146451611 GRCh37 Chromosome 13, 23913939: 23913939
42 SACS NM_014363.5(SACS): c.4076T> C (p.Met1359Thr) single nucleotide variant Uncertain significance rs146451611 GRCh38 Chromosome 13, 23339800: 23339800
43 SACS NM_014363.5(SACS): c.2643G> C (p.Glu881Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs200517685 GRCh37 Chromosome 13, 23915372: 23915372
44 SACS NM_014363.5(SACS): c.2643G> C (p.Glu881Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs200517685 GRCh38 Chromosome 13, 23341233: 23341233
45 SACS NM_014363.5(SACS): c.13527dupA (p.Glu4510Argfs) duplication Pathogenic rs797045936 GRCh37 Chromosome 13, 23904488: 23904488
46 SACS NM_014363.5(SACS): c.13527dupA (p.Glu4510Argfs) duplication Pathogenic rs797045936 GRCh38 Chromosome 13, 23330349: 23330349
47 SACS NM_014363.5(SACS): c.10982C> T (p.Ala3661Val) single nucleotide variant Conflicting interpretations of pathogenicity rs36061856 GRCh37 Chromosome 13, 23907033: 23907033
48 SACS NM_014363.5(SACS): c.10982C> T (p.Ala3661Val) single nucleotide variant Conflicting interpretations of pathogenicity rs36061856 GRCh38 Chromosome 13, 23332894: 23332894
49 SACS NM_014363.5(SACS): c.10906C> T (p.Arg3636Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780247476 GRCh37 Chromosome 13, 23907109: 23907109
50 SACS NM_014363.5(SACS): c.10906C> T (p.Arg3636Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780247476 GRCh38 Chromosome 13, 23332970: 23332970

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

7
# CNVD ID Chromosom 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

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

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

Sources for Spastic Ataxia, Charlevoix-Saguenay Type

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