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Spastic ataxia Charlevoix-Saguenay type(SACS)

MedGen UID:
338620
Concept ID:
C1849140
Disease or Syndrome
Synonyms: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; SACS; SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE; Spastic ataxia of Charlevoix-Saguenay
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: ARSACS - autosomal recessive spastic ataxia of Charlevoix-Saguenay (702445005); Autosomal recessive spastic ataxia of Charlevoix-Saguenay (702445005); Spastic ataxia of Charlevoix-Saguenay (702445005)
 
Gene (location): SACS (13q12.12)
OMIM®: 270550
Orphanet: ORPHA98

Disease characteristics

Excerpted from the GeneReview: ARSACS
ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay) is characterized in individuals born in Quebec Province by early-onset (age 12-18 months) difficulty in walking and gait unsteadiness. In individuals with ARSACS born outside the Province of Quebec, onset is often delayed until later childhood and even adulthood. Ataxia, dysarthria, spasticity, extensor plantar reflexes, distal muscle wasting, a distal sensorimotor neuropathy predominant in the legs, and horizontal gaze-evoked nystagmus constitute the most frequent progressive neurologic signs. Increased demarcation of the retinal nerve fibers located near the vessels close to the optic disc (formerly designated as yellow streaks of hypermyelinated fibers) is very common in individuals with ARSACS who originate from Quebec but may be absent in non-Quebec born individuals. Individuals with ARSACS born in the Province of Quebec become wheelchair bound at the average age of 41 years; cognitive skills are preserved in the long term as individuals remain able to perform daily living tasks late into adulthood. Death commonly occurs in the sixth decade. [from GeneReviews]
Authors:
Sascha Vermeer  |  Bart P van de Warrenburg  |  Erik-Jan Kamsteeg   view full author information

Additional descriptions

From OMIM
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).  http://www.omim.org/entry/270550
From GHR
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.This condition was first seen in people of the Charlevoix-Saguenay region of Quebec, Canada. The majority of people with ARSACS live in Quebec or have recent ancestors from Quebec. People with ARSACS have also been identified in Japan, Turkey, Tunisia, Spain, Italy, and Belgium. The signs and symptoms of ARSACS seen in other countries differ from those in Quebec. In people with ARSACS outside of Quebec, hypermyelination of the retina is seen less often, intelligence may be below normal, and symptoms tend to appear at a later age.  https://ghr.nlm.nih.gov/condition/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay

Clinical features

Absent Achilles reflex
MedGen UID:
108240
Concept ID:
C0558845
Finding
Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Hammertoe
MedGen UID:
209712
Concept ID:
C1136179
Anatomical Abnormality
Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
Swan neck-like deformities of the fingers
MedGen UID:
336516
Concept ID:
C1849152
Finding
A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Distal muscle weakness
MedGen UID:
355271
Concept ID:
C1864696
Finding
Reduced strength of the musculature of the distal extremities.
Hammertoe
MedGen UID:
209712
Concept ID:
C1136179
Anatomical Abnormality
Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
Swan neck-like deformities of the fingers
MedGen UID:
336516
Concept ID:
C1849152
Finding
A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpastic ataxia Charlevoix-Saguenay type
Follow this link to review classifications for Spastic ataxia Charlevoix-Saguenay type in Orphanet.

Professional guidelines

PubMed

van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O
Eur J Neurol 2014 Apr;21(4):552-62. Epub 2014 Jan 13 doi: 10.1111/ene.12341. PMID: 24418350

Recent clinical studies

Etiology

Liu L, Li XB, Zi XH, Shen L, Hu ZhM, Huang ShX, Yu DL, Li HB, Xia K, Tang BS, Zhang RX
J Neurol Sci 2016 Mar 15;362:111-4. Epub 2016 Jan 18 doi: 10.1016/j.jns.2016.01.026. PMID: 26944128
Criscuolo C, Procaccini C, Meschini MC, Cianflone A, Carbone R, Doccini S, Devos D, Nesti C, Vuillaume I, Pellegrino M, Filla A, De Michele G, Matarese G, Santorelli FM
J Neurol 2015 Dec;262(12):2755-63. Epub 2015 Nov 3 doi: 10.1007/s00415-015-7911-4. PMID: 26530509
Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I
Ann Neurol 2015 Dec;78(6):871-86. Epub 2015 Nov 14 doi: 10.1002/ana.24509. PMID: 26288984
Storey E
Semin Neurol 2014 Jul;34(3):280-92. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386766. PMID: 25192506
Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard JP, Mathieu J, Brais B
Can J Neurol Sci 2013 Jan;40(1):61-6. PMID: 23250129

Diagnosis

Shah CT, Ward TS, Matsumoto JA, Shildkrot Y
J AAPOS 2016 Feb;20(1):81-3. doi: 10.1016/j.jaapos.2015.10.007. PMID: 26917082
Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I
Ann Neurol 2015 Dec;78(6):871-86. Epub 2015 Nov 14 doi: 10.1002/ana.24509. PMID: 26288984
Leavitt JA, Singer W, Brown WL, Pulido JS, Brodsky MC
J Neuroophthalmol 2014 Dec;34(4):369-71. doi: 10.1097/WNO.0000000000000174. PMID: 25237835
Garcia-Martin E, Pablo LE, Gazulla J, Vela A, Larrosa JM, Polo V, Marques ML, Alfaro J
Invest Ophthalmol Vis Sci 2013 Oct 29;54(10):7137-42. doi: 10.1167/iovs.13-12726. PMID: 24114536
Duquette A, Brais B, Bouchard JP, Mathieu J
Mov Disord 2013 Dec;28(14):2011-4. Epub 2013 Aug 2 doi: 10.1002/mds.25604. PMID: 23913799

Therapy

Pedroso JL, Braga-Neto P, Abrahão A, Rivero RL, Abdalla C, Abdala N, Barsottini OG
Arq Neuropsiquiatr 2011;69(2B):288-91. PMID: 21625752
Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F
Parkinsonism Relat Disord 2011 Jul;17(6):418-22. Epub 2011 Mar 30 doi: 10.1016/j.parkreldis.2011.03.005. PMID: 21450511

Prognosis

Mignarri A, Tessa A, Carluccio MA, Rufa A, Storti E, Bonelli G, Marcotulli C, Santorelli FM, Leonardi L, Casali C, Federico A, Dotti MT
Neurol Sci 2014 Jan;35(1):95-7. Epub 2013 Dec 7 doi: 10.1007/s10072-013-1592-5. PMID: 24318559
McElroy JP, Krupp LB, Johnson BA, McCauley JL, Qi Z, Caillier SJ, Gourraud PA, Yu J, Nathanson L, Belman AL, Hauser SL, Waubant E, Hedges DJ, Oksenberg JR
Mult Scler 2013 Jul;19(8):1014-21. Epub 2012 Dec 13 doi: 10.1177/1352458512469696. PMID: 23239789

Clinical prediction guides

Criscuolo C, Procaccini C, Meschini MC, Cianflone A, Carbone R, Doccini S, Devos D, Nesti C, Vuillaume I, Pellegrino M, Filla A, De Michele G, Matarese G, Santorelli FM
J Neurol 2015 Dec;262(12):2755-63. Epub 2015 Nov 3 doi: 10.1007/s00415-015-7911-4. PMID: 26530509
Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I
Ann Neurol 2015 Dec;78(6):871-86. Epub 2015 Nov 14 doi: 10.1002/ana.24509. PMID: 26288984
Larivière R, Gaudet R, Gentil BJ, Girard M, Conte TC, Minotti S, Leclerc-Desaulniers K, Gehring K, McKinney RA, Shoubridge EA, McPherson PS, Durham HD, Brais B
Hum Mol Genet 2015 Feb 1;24(3):727-39. Epub 2014 Sep 26 doi: 10.1093/hmg/ddu491. PMID: 25260547Free PMC Article
Gazulla J, Mayayo-Sinués E, Benavente I, Modrego PJ, Berciano J
Can J Neurol Sci 2014 Jan;41(1):37-41. PMID: 24384335
Liew WK, Ben-Omran T, Darras BT, Prabhu SP, De Vivo DC, Vatta M, Yang Y, Eng CM, Chung WK
JAMA Neurol 2013 Jun;70(6):788-91. doi: 10.1001/jamaneurol.2013.247. PMID: 23699708

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