| H01616 | |
| H number | H01616 |
| Name | Spinocerebellar degeneration |
| Description | Spinocerebellar degenerations are neurodegenerative diseases that involve the cerebellum, brain stem, spinal cord, and basal ganglia to various degrees. Patients display limb and truncal ataxia, dysarthria, dysphagia, extrapyramidal sign, pyramidal sign, and autonomic disorder. Spinocerebellar degeneration includes both sporadic and hereditary forms. Most cases of sporadic spinocerebellar degeneration are now considered to be multiple system atrophy (MSA). Hereditary spinocerebellar degeneration includes autosomal dominant types and autosomal recessive types. |
| Category | Neurodegenerative disease |
| Network | - |
| Gene | - |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Autosomal dominant type: Spinocerebellar ataxia (SCA), Dentatorubropallidoluysian atrophy (DRPLA) Autosomal recessive type: Friedreich ataxia (FA), Ataxia with isolated vitamin E deficiency (AVED), Ataxia with ocular apraxia (AOA), Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) |
| Other DBs | ICD-11: 8A03 ICD-10: G11 MeSH: D013132 |
| Reference | PMID:19295212 AUTHORS Kawai Y, Suenaga M, Watanabe H, Sobue G TITLE Cognitive impairment in spinocerebellar degeneration. JOURNAL Eur Neurol 61:257-68 (2009) DOI:10.1159/000206850 PMID:23538602 AUTHORS Jayadev S, Bird TD TITLE Hereditary ataxias: overview. JOURNAL Genet Med 15:673-83 (2013) DOI:10.1038/gim.2013.28 |