Details of Disease

General Information of Disease (ID: DISE8X81)

• Disease Name: Charlevoix-Saguenay spastic ataxia
• Synonyms: autosomal recessive spastic ataxia of Charlevoix-Saguenay; spastic ataxia of Charlevoix-Saguenay; spastic ataxia 6, autosomal recessive; sacs; spastic ataxia Charlevoix-Saguenay type; spastic ataxia, Charlevoix-Saguenay type; autosomal recessive spastic ataxia type 6; ARSACS; SPAX6; Charlevoix-Saguenay spastic ataxia
• Definition: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.
• Disease Hierarchy:
  DISWBOUC: Autosomal recessive cerebellar ataxia
  DIS6VTRF: Autosomal recessive spastic ataxia
  DISE8X81: Charlevoix-Saguenay spastic ataxia
• Disease Identifiers:
  MONDO ID: MONDO_0010041
  MESH ID: C536787
  UMLS CUI: C1849140
  OMIM ID: 270550
  MedGen ID: 338620
  Orphanet ID: 98
  SNOMED CT ID: 702445005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DCPS	TTLSW9V	Strong	Biomarker	[1]
SGCG	TTSMT9W	Strong	Genetic Variation	[2]
UTRN	TTNO1VA	Strong	Biomarker	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CRMP1	DE0EUXB	Strong	Biomarker	[3]

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AFG3L2	OTRPMAUX	Strong	Biomarker	[4]
ANKFY1	OTHT028D	Strong	Biomarker	[5]
APTX	OTPAS5G8	Strong	Genetic Variation	[6]
COQ8A	OT1ETSA2	Strong	Genetic Variation	[6]
DAPK2	OTWODUQG	Strong	Biomarker	[3]
DENR	OTXP9HOY	Strong	Biomarker	[3]
SETX	OTG3JNOQ	Strong	Genetic Variation	[6]
SUN2	OT2IQJUC	Strong	Biomarker	[7]
TRPS1	OT7XPPEL	Strong	Genetic Variation	[8]
SACS	OTZGXQ8A	Definitive	Autosomal recessive	[9]
SPAST	OTIF3AJI	Definitive	Autosomal recessive	[10]

References

• [1] Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.Stem Cell Res. 2018 Aug;31:249-252. doi: 10.1016/j.scr.2018.07.012. Epub 2018 Jul 27.
• [2] Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient.Muscle Nerve. 2009 Mar;39(3):396-9. doi: 10.1002/mus.21222.
• [3] p62/sequestosome-1 knockout delays neurodegeneration induced by Drp1 loss.Neurochem Int. 2018 Jul;117:77-81. doi: 10.1016/j.neuint.2017.05.012. Epub 2017 May 18.
• [4] Movement disorders in mitochondrial diseases.Rev Neurol (Paris). 2016 Aug-Sep;172(8-9):524-529. doi: 10.1016/j.neurol.2016.07.003. Epub 2016 Jul 28.
• [5] Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.Front Mol Neurosci. 2017 May 1;10:121. doi: 10.3389/fnmol.2017.00121. eCollection 2017.
• [6] Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.Neurogenetics. 2010 Feb;11(1):1-12. doi: 10.1007/s10048-009-0196-y. Epub 2009 May 14.
• [7] Recessive ataxias.Handb Clin Neurol. 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6.
• [8] Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.Am J Med Genet A. 2016 Jul;170(7):1820-5. doi: 10.1002/ajmg.a.37684. Epub 2016 May 2.
• [9] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [10] ARSACS, a spastic ataxia common in northeastern Qubec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet. 2000 Feb;24(2):120-5. doi: 10.1038/72769.