eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | spinocerebellar ataxia 1 |
| Comorbidity | C0004134|ataxia |
| Sentences | 2 |
| PubMedID- 21041446 | Conditional mouse models of neurodegeneration such as hd (yamamoto et al., 2000), sca1 (spinocerebellar ataxia type 1; zu et al., 2004), and tauopathy (santacruz et al., 2005), in which expression of the mutant protein was turned off after the onset of pathogenesis, and inclusion body appearance established that there is a window of time during which neurons can recover from the proteotoxic stress induced by aggregation-prone proteins and that neurons are capable of disaggregation and/or elimination of inclusion bodies. |
| PubMedID- 24225362 | None of the timed measures (t25fw, 9hpt and scafi-ab) captured the faster progression of ataxia in sca1 than sca2, 3 and 6. in t25fw, the devices used to assist walking complicate the measurements. |
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