| H01170 | |
| H number | H01170 |
| Name | Autosomal recessive spastic ataxia of Charlevoix-Saguenay |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | SACS [HSA:26278] [KO:K17592] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A03.1Y ICD-10: G11.1 MeSH: C536787 OMIM: 270550 |
| Reference | PMID:21450511 AUTHORS Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F TITLE Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. JOURNAL Parkinsonism Relat Disord 17:418-22 (2011) DOI:10.1016/j.parkreldis.2011.03.005 PMID:21665375 AUTHORS Gazulla J, Vela AC, Marin MA, Pablo L, Santorelli FM, Benavente I, Modrego P, Tintore M, Berciano J TITLE Is the ataxia of Charlevoix-Saguenay a developmental disease? JOURNAL Med Hypotheses 77:347-52 (2011) DOI:10.1016/j.mehy.2011.05.011 PMID:22307627 AUTHORS Girard M, Lariviere R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, Chapple JP, McPherson PS TITLE Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). JOURNAL Proc Natl Acad Sci U S A 109:1661-6 (2012) DOI:10.1073/pnas.1113166109 PMID:20970105 (SPAX4) AUTHORS Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN TITLE Defective mitochondrial mRNA maturation is associated with spastic ataxia. JOURNAL Am J Hum Genet 87:655-60 (2010) DOI:10.1016/j.ajhg.2010.09.013 |