From the molecular hallmarks to motor behavior: characterization of a new transgenic mouse model for spinocerebellar ataxia type 2

Afonso, Inês T.; Koppenol, Rebekah; Conceição, André; Paulino, Rodrigo; Mirapalheta, Lourenzo; Matos, Carlos A; Nóbrega, Clévio

http://hdl.handle.net/10400.1/20175

Use this identifier to reference this record.

Name:	Description:	Size:	Format:
Journal of Neurochemistry - 2023 - - Poster Sessions A-40.pdf		191.04 KB	Adobe PDF	Download

Send Feedback

Authors

Mirapalheta, Lourenzo

Matos, Carlos A

Nóbrega, Clévio

Abstract(s)

Spinocerebellar ataxia type 2 (SCA2) is a rare disease with no cure, and therefore patients depend on symptomatic and supportive treatments. It is a highly debilitating disease affecting predominantly the brain with symptoms that include motor and coordination impairment. SCA2 is caused by an abnormal expansion of the CAG triplet in the coding region of the ATXN2 gene. When it has above 33 CAG repeats, it originates a protein with an abnormally expanded glutamine tract. The mutant protein impairs several cellular functions, leading to neuronal degeneration and death. Several rodent models were developed to study the neuropathology and potential therapies for SCA2. However, most of them fail to mimic a complete SCA2 phenotype, taking too long to develop diseaserelated symptoms or failing to display neuronal-associated deficits.