| H01170 | |
| H番号 | H01170 |
| 名称 | シャルルヴォア・サグエ型痙性失調症 |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | SACS [HSA:26278] [KO:K17592] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A03.1Y ICD-10: G11.1 MeSH: C536787 OMIM: 270550 |
| 文献 | PMID:21450511 著者 Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F タイトル Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. 雑誌 Parkinsonism Relat Disord 17:418-22 (2011) DOI:10.1016/j.parkreldis.2011.03.005 PMID:21665375 著者 Gazulla J, Vela AC, Marin MA, Pablo L, Santorelli FM, Benavente I, Modrego P, Tintore M, Berciano J タイトル Is the ataxia of Charlevoix-Saguenay a developmental disease? 雑誌 Med Hypotheses 77:347-52 (2011) DOI:10.1016/j.mehy.2011.05.011 PMID:22307627 著者 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 タイトル Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 雑誌 Proc Natl Acad Sci U S A 109:1661-6 (2012) DOI:10.1073/pnas.1113166109 PMID:20970105 (SPAX4) 著者 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 タイトル Defective mitochondrial mRNA maturation is associated with spastic ataxia. 雑誌 Am J Hum Genet 87:655-60 (2010) DOI:10.1016/j.ajhg.2010.09.013 |