Ricerc@Sapienza

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease characterized by a progressive cerebellar syndrome and multiple-domain cognitive impairments. The cerebellum is known to contribute to distinct functional networks related to higher-level functions. The aims of the present study were to investigate the different sub-components of attention and to analyse possible correlations between attention deficits and specific cerebellar regions in SCA2 patients.

OBJECTIVE: To characterize clinically and molecularly an early-onset, variably
progressive neurodegenerative disorder characterized by a cerebellar syndrome
with severe ataxia, gaze palsy, dyskinesia, dystonia, and cognitive decline
affecting 11 individuals from 3 consanguineous families.
METHODS: We used whole-exome sequencing (WES) (families 1 and 2) and a combined
approach based on homozygosity mapping and WES (family 3). We performed in vitro
studies to explore the effect of the nontruncating SQSTM1 mutation on protein